Sant Pau - Institut de Recerca

Main lines of research

Autoimmune neuromuscular diseases

Characterization of new target antigens in Myasthenia Gravis, and immune neuropathies (CIDP, GBS, MMN). Their use as diagnostic and therapeutic biomarkers.
Pathogenesis of newly recognized paranodal antigens in CIDP.
Analysis of the innate immunity in inflammatory myopathies.
Analysis of the impact of new immunomodulating therapies on IgG4 mediated Neuromuscular Diseases (NMD).
Functional aspects of immune system cells (response to ligands, production of
antibodies, etc).
IGOS data base for Guillain Barre syndrome.
NMD-ES Spanish registry for neuromuscular diseases.

Muscular dystrophy, dysferlinopathy and distal myopathies

Muscle MRI analysis as a biomarker of different muscular dystrophies.
Study of miRNA profiles and muscle secretome in muscular dystrophies.
Role of PDGF in muscular dystrophies fibrosis.
Natural history of Dysferlinopathies. The international COS-study Jain Foundation.
To evaluate the frequency of carriers of mutations in the dyferlin gene in normal
population.

Amyotrophic lateral sclerosis

Epidemiology of ALS in Catalonia.
Gene profile of ALS patients in Spain.
Biomarkers profile in different phenotypes of ALS.

Challenges

Advance in the knowledge of the immunological mechanisms involved in the pathogenesis of autoimmune neuromuscular diseases (MG, CIDP, MMN).
Advance in the knowledge of the pathogenetic mechanisms of inflammatory myopathies (DM, PM, IBM).
Search for new antigens and develop diagnostic tests with new biomarkers in immune –mediated neuropathies and Myasthenia Gravis.
Implement new diagnostic and disease follow-up methods for muscular dystrophies resulting from dysferlinopathy and other myopathies research (biomarkers (miRNA, secretome), MRI, etc).
Advance in the knowledge of the pathogenetic mechanisms involved in muscular dystrophy resulting from dysferlin deficiency and other muscular dystrophies.
Cleanroom access to manipulate cells for use in humans.
Use of the NMD.ES registry to perform research in different NMD.

Additional information : Neuromuscularbcn

Group coordination

OLIVE PLANA, MONTSERRAT FGS
molive@santpau.cat

Members

Blanco Soto, Rosa Maria IR
Carbayo Viejo, Alvaro FGS
Collet Vidiella, Roger IR
Cortes Vicente, Elena FGS
Diaz Manera, Jorge Alberto FGS
Domenech Garcia, Roger IR
Gallardo Vigo, Eduard IR
Guardiola Ripoll, Maria CIBERER
Llarch Cegarra, Paula IR
Lleixa Rodriguez, Maria Cinta IR
Mederer Fernandez, Tania Isabel FGS
Pascual Goñi, Elba FGS
Querol Gutierrez, Luis Antonio FGS
Rocaspana Codana, Josep IR
Rojas Garcia, Ricardo FGS
Segovia Simon, Sonia IR
Tejada Illa, Clara IR
Turon Sans, Joana FGS
Vesperinas Castro, Ana IR

Publications 2023

(JIF 2022)

-Al H, Doets AY, Stino AM, Zivkovic SA, Andersen H, Willison HJ, Cornblath DR, Gorson KC, Islam Z, Mohammad QD, Sindrup SØH, Kusunoki S, Davidson A, Casasnovas C, Bateman K, Miller JAL, Van Den Berg B, Verboon C, Roodbol J, Leonhard SE, Arends S, Luijten LWG, Benedetti L, Kuwabara S, Van Den Bergh P, Monges S, Marfia GA, Shahrizaila N, Galassi G, Pereon Y, Burmann J, Kuitwaard K, Kleyweg RP, Marchesoni C, Tous MJS, Querol L, Martin L, Wang Y, Nobile E, Rinaldi S, Schenone A, Pardo J, Vermeij FH, Waheed W, Lehmann HC, Granit V, Stein B, Cavaletti G, Gutierrez G, Barroso FA, Visser LH, Katzberg HD, Dardiotis E, Attarian S, Van Der Kooi AJ, Eftimov F, Wirtz PW, Samijn JPA, Jacobus H, Hadden RDM, Holt JKL, Sheikh KA, Kolb N, Karafiath S, Vytopil M, Antonini G, Feasby TE, Faber C, Kramers H, Busby M, Roberts RC, Silvestri NJ, Fazio R, Van GW, Garssen MPJ, Verschuuren J, Harbo T, Jacobs BC. CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome. NEUROLOGY. 2023; 100(23):e2386-e2397. DOI:10.1212/WNL.0000000000207282. PMID:37076309. IF:9,900 (Q1/1D). Document type: Article.

-Álvarez R, Dols O, El Bounasri S, López L, Trujillo JC, Reyes D, Suárez X, Cortés E, Illa I, Gallardo E. Reduced Number of Thymoma CTLA4-Positive Cells Is Associated With a Higher Probability of Developing Myasthenia Gravis. Neurology-Neuroimmunology & Neuroinflammation. 2023; 10(2):e200085. DOI:10.1212/NXI.0000000000200085. PMID:36697230. IF:8,800 (Q1/1D). Document type: Article.

-Artola M, Hernando A, Vidal O, Vidal N, Cuenca E, Horno R, Robles MA, Oriol C, Peralta S, Solana M, Rubio M, Montero C, Lleixa M, Zabay C, Martin M, Leon I, Molinos C, Matamoros M, Mercade L, Fornali O, Montero L, Saiz A, Sola N. The role of specialist nurses in detecting spasticity and related symptoms in multiple sclerosis. JOURNAL OF CLINICAL NURSING. 2023; 32(13-14)DOI:10.1111/jocn.16421. PMID:35799407. IF:4,200 (Q1/1D). Document type: Article.

-Bermejo L, Fernández CPD, González L, Segarra A, Nedkova V, Gallano P, Martín P, Hernández A, Olivé M, Arteche A, Domínguez C. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients. NEUROMUSCULAR DISORDERS. 2023; 33(12)DOI:10.1016/j.nmd.2023.10.016. PMID:38016875. IF:2,800 (Q3/6D). Document type: Article.

-Blanco Y, Escudero D, Lleixà C, Llufriu S, Egri N, García RR, Alba M, Aguilar E, Artola M, Aldea M, Alvarez S, Caballero E, Cabrera JM, Fonseca E, Guasp M, Hernando A, Martinez E, Olivé G, Lopez J, Martín L, Martinez L, Rombauts A, Rodés M, Sabater L, Sepulveda M, Solana E, Tejada C, Vidal N, Vilella A, Fortuny C, Armangué T, Dalmau JO, Querol L, Saiz A. mRNA COVID-19 Vaccination Does Not Exacerbate Symptoms or Trigger Neural Antibody Responses in Multiple Sclerosis. Neurology-Neuroimmunology & Neuroinflammation. 2023; 10(6)DOI:10.1212/NXI.0000000000200163. PMID:37679040. IF:8,800 (Q1/1D). Document type: Article.

-Broers MC, Wieske L, Erdag E, Gürlek C, Bunschoten C, van PA, Eftimov F, Kuitwaard K, de Vries JM, de Wit MCY, Nagtzaam MMP, Franken SC, Zhu L, Paunovic M, de Wit M, Schreurs MWJ, Lleixà C, Martín L, Pascual E, Querol L, Jacobs BC, Huizinga R, Titulaer MJ. Clinical relevance of distinguishing autoimmune nodopathies from CIDP: longitudinal assessment in a large cohort. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2023; 95(1)DOI:10.1136/jnnp-2023-331378. PMID:37879898. IF:11,000 (Q1/1D). Document type: Article.

-Collet R, Caballero M, Querol L. Clinical and pathophysiological implications of autoantibodies in autoimmune neuropathies. REVUE NEUROLOGIQUE. 2023; 179(8)DOI:10.1016/j.neurol.2023.02.064. PMID:36907709. IF:3,000 (Q3/6D). Document type: Review.

-Davies AJ, Lleixà C, Siles AM, Gourlay DS, Berridge G, Dejnirattisai W, Ramírez C, Anaya J-M, Falconar AK, Romero CM, Osorio L, Parra B, Screaton GR, Mongkolsapaya J, Fischer R, Pardo CA, Halstead SK, Willison HJ, Querol L, Rinaldi S. Guillain-Barré Syndrome Following Zika Virus Infection Is Associated With a Diverse Spectrum of Peripheral Nerve Reactive Antibodies. Neurology-Neuroimmunology & Neuroinflammation. 2023; 10(1):e200047. DOI:10.1212/NXI.0000000000200047. PMID:36411078. IF:8,800 (Q1/1D). Document type: Article.

-de Bruyn A, Montagnese F, Holm S, Poulsen NS, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, ten L, Gonzalez CD, Maggi L, Gallone A, Kostera A, Macias A, Lusakowska A, Nedkova V, Olive M, Alvarez R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernandez G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG. Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort. BRAIN. 2023; 146(9)DOI:10.1093/brain/awad088. PMID:36913258. IF:14,500 (Q1/1D). Document type: Article.

-de Frutos F, Ochoa JP, Gómez C, Reyes D, Aróstegui JI, Casasnovas C, Barriales R, Sevilla T, Gonzalez E, Ramil E, Galan L, González J, García A, Rojas R, Espinosa MA, Garcia P. Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain. AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS. 2023; 30(2)DOI:10.1080/13506129.2022.2142110. PMID:36343383. IF:5,500 (Q1/3D). Document type: Article.

-de Luna N, Carbayo Á, Dols O, Turon J, Reyes D, Illan I, Jericó I, Pagola I, Lleixà C, Querol L, Rubio S, Alcolea D, Fortea J, Lleó A, Cortés E, Rojas R. Neuroinflammation-Related Proteins NOD2 and Spp1 Are Abnormally Upregulated in Amyotrophic Lateral Sclerosis. Neurology-Neuroimmunology & Neuroinflammation. 2023; 10(2):e200072. DOI:10.1212/NXI.0000000000200072. PMID:36460480. IF:8,800 (Q1/1D). Document type: Article.

-Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez S, Stark A, Chia R, García A, Rojas R, Vázquez JF, Fernandez R, Bandres S, Gómez P, Periñán MT, Mir P, Pérez J, Cardona F, Menendez M, Riancho J, Borrego D, Galán L, Infante J, Pastor P, Paradas C, Dols O, Traynor BJ, Feldman EL, Goutman SA, Spanish C. Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies. Neurology-Genetics. 2023; 9(4):e200079. DOI:10.1212/NXG.0000000000200079. PMID:37293291. IF:3,100 (Q2/5D). Document type: Article.

-El L, Amara A, Sanson B, Lacatus O, Belhouchet AA, Kroneman M, Claeys K, Plancon JP, Rodolico C, Primiano G, Trojsi F, Filosto M, Mongini TE, Bortolani S, Monforte M, Carraro E, Maggi L, Ricci F, Silani V, Orsucci D, Créange A, Péréon Y, Stojkovic T, van der Beek N, Toscano A, Pareyson D, Attarian S, Van den Bergh PYK, Remiche G, Hoeijmakers JGJ, Badrising U, Voermans NC, Kaindl AM, Schara U, Schoser B, Gazzerro E, Haberlová J, Vohanka S, Pál E, Molnar MJ, Leonardis L, Tournev IL, Osorio AN, Olivé M, Muelas N, Alonso J, Plá F, De Visser M, Siciliano G, Sacconi S. Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey. Journal Of Neuromuscular Diseases. 2023; 10(2)DOI:10.3233/JND-221525. PMID:36373291. IF:3,300 (Q2/5D). Document type: Article.

-Esteller D, Morrow J, Alonso J, Reyes D, Carbayo A, Bisogni G, Cateruccia M, Monforte M, Tasca G, Alangary A, Marini C, Sabatelli M, Laura M, Ramdharry G, Bolaño C, Turon J, Töpf A, Guglieri M, Rossor AM, Olive M, Bertini E, Straub V, Reilly MM, Rojas R, Díaz J. Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis. NEUROMUSCULAR DISORDERS. 2023; 33(10)DOI:10.1016/j.nmd.2023.08.010. PMID:37704504. IF:2,800 (Q3/6D). Document type: Article.

-Esteller D, Schiava M, Villar RN, Dibowski B, Venturelli N, Laforet P, Alonso J, Olive M, Domínguez C, Paradas C, Vélez B, Kostera A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández R, de Munain AL, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj A, Cetin H, Badrising U, Warman J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz J. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis. JOURNAL OF NEUROLOGY. 2023; DOI:10.1007/s00415-023-11862-4. PMID:37603075. IF:6,000 (Q1/2D). Document type: Article.

-Fehmi J, Davies AJ, Antonelou M, Keddie S, Pikkupeura S, Querol L, Delmont E, Cortese A, Franciotta D, Persson S, Barratt J, Pepper R, Farinha F, Rahman A, Canetti D, Gilbertson JA, Rendell NB, Radunovic A, Minton T, Fuller G, Murphy SM, Carr AS, Reilly MR, Eftimov F, Wieske L, Teunissen CE, Roberts I, Ashman N, Salama AD, Rinaldi S. Contactin-1 links autoimmune neuropathy and membranous glomerulonephritis. PLoS One. 2023; 18(3):e0281156. DOI:10.1371/journal.pone.0281156. PMID:36893151. IF:3,700 (Q2/4D). Document type: Article.

-Fionda L, Lauletta A, Leonardi L, Perez JA, Morino S, Merlonghi G, Alfieri G, Costanzo R, Tufano L, Vanoli F, Rossini E, Vigo EG, Tartaglione T, Salvetti M, Antonini G, Diaz J, Garibaldi M. Muscle MRI in immune-mediated necrotizing myopathy (IMNM): implications for clinical management and treatment strategies. JOURNAL OF NEUROLOGY. 2023; 270(2)DOI:10.1007/s00415-022-11447-7. PMID:36329184. IF:6,000 (Q1/2D). Document type: Article.

-Ingelfinger F, Sparano C, Bamert D, Reyes-Leiva D, Sethi A, Rindlisbacher L, Zwicky P, Kreutmair S, Widmer CC, Mundt S, Cortés-Vicente E, Tugues S, Becher B, Schreiner B. Azathioprine therapy induces selective NK cell depletion and IFN-γ deficiency predisposing to herpesvirus reactivation. J Allergy Clin Immunol. 2023; 151(1):280-286.e2. DOI: 10.1016/j.jaci.2022.09.010. PMID: 36122787. IF:14,200 (Q1/1D) Document type: Article.

-Jericó I, Vicuña J, Blanco I, Macias M, Martinez L, Roldán M, Rojas R, Pagola I, Carbayo A, De Luna N, Zelaya V, Mendioroz M. Profiling TREM2 expression in amyotrophic lateral sclerosis. BRAIN BEHAVIOR AND IMMUNITY. 2023; 109DOI:10.1016/j.bbi.2023.01.013. PMID:36681358. IF:15,100 (Q1/1D). Document type: Review.

-Mackenbach MJ, Willemse EAJ, Van Den Dorpel JJA, Van Der Beek NAME, Díaz J, Rizopoulos D, Teunissen C, Van Der Ploeg AT, Van Den Hout JMP. Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease. NEUROLOGY. 2023; 101(6):e594-e601. DOI:10.1212/WNL.0000000000207482. PMID:37336766. IF:9,900 (Q1/1D). Document type: Article.

-Meca JE, Prieto JM, Caminero AB, Olascoaga J, Alonso AM, Durán E, Espinosa R, Dotor J, Romera M, Ares A, Pérez D, Calles C, Hernández MA, Hervás M, Mendoza A, Berdei Y, Téllez N, Herrera N, Sotoca J, Presas S, Querol LA, Hervás M, Batlle J, Martín G, Gubieras L, Martínez S, Ramió L, Mallada J, Belenguer A, Gascón F, Casanova B, Landete L, Berenguer L, Navarro L, Gómez M, Durán C, Rodríguez A, Álvarez E, García DA, López AM, Llaneza MA, Marzo ME, Sánchez JL, Oterino A, Villaverde R, Castillo T, Álvarez de Arcaya A, Llarena C. Effectiveness and Safety of Teriflunomide in Relapsing–Remitting Multiple Sclerosis and Improvements in Quality of Life: Results from the Real-World TERICARE Study. Neurology and Therapy. 2023; DOI:10.1007/s40120-023-00557-7. PMID:37861931. IF:3,700 (Q2/4D). Document type: Article.

-Moore U, Fernández E, Schiava M, Cox D, Gordish H, James MK, Mayhew A, Wilson I, Guglieri M, Rufibach L, Blamire A, Carlier PG, Mori M, Day JW, Jones KJ, Bharucha DX, Salort E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Bravver E, Pegoraro E, Mendell JR, Bushby K, Diaz J, Straub V, Jain C. Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy. NEUROMUSCULAR DISORDERS. 2023; 33(2)DOI:10.1016/j.nmd.2023.01.001. PMID:36689846. IF:2,800 (Q3/6D). Document type: Article.

-Palones E, Curto E, Plaza V, Gonzalez L, Segarra A, Querol L, Bertoletti F, Rodriguez MJ, Gallano P, Crespo A. Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS). JOURNAL OF NEUROLOGY. 2023; DOI:10.1007/s00415-023-12001-9. PMID:37917234. IF:6,000 (Q1/2D). Document type: Article.

-Querol L, Delmont E, Lleixa C. The autoimmune vulnerability of the node of Ranvier. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2023; 28:S12-S22. DOI:10.1111/jns.12570. PMID:37272737. IF:3,800 (Q2/4D). Document type: Review.

-Querol L, Lewis RA, Hartung HP, Van PA, Wallstroem E, Luo XD, Alonso M, Atassi N, Hughes R. An innovative phase 2 proof-of-concept trial design to evaluate SAR445088, a monoclonal antibody targeting complement C1s in chronic inflammatory demyelinating polyneuropathy. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2023; 28(2)DOI:10.1111/jns.12551. PMID:37119056. IF:3,800 (Q2/4D). Document type: Article.

-Saccà F, Salort E, Jacob S, Cortés E, Schneider C. Refocusing generalized myasthenia gravis: Patient burden, disease profiles, and the role of evolving therapy. EUROPEAN JOURNAL OF NEUROLOGY. 2023; DOI:10.1111/ene.16180. PMID:38117543. IF:5,100 (Q1/3D). Document type: Review.

-Schiava M, Ikenaga C, Topf A, Caballero M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini C, Diaz J, Weihl CC. Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy. Neurology-Genetics. 2023; 9(5):e200093. DOI:10.1212/NXG.0000000000200093. PMID:37588275. IF:3,100 (Q2/5D). Document type: Article.

-Segarra A, Collet R, Gonzalez L, Vesperinas A, Caballero M, Carbayo A, Diaz J, Rodriguez MJ, Gallardo E, Gallano P, Olive M. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness. NEUROMUSCULAR DISORDERS. 2023; 33(4)DOI:10.1016/j.nmd.2023.02.006. PMID:36893608. IF:2,800 (Q3/6D). Document type: Article.

-Suárez X, Fernández E, Natera D, Jou C, Pinol P, Villalobos E, Ortez C, Monceau A, Schiava M, Codina A, Verdu J, Clark J, Laidler Z, Mehra P, Gokul R, Alonso J, Marini C, Tasca G, Straub V, Guglieri M, Nascimento A, Diaz J. Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations. Cell Death & Disease. 2023; 14(9):596. DOI:10.1038/s41419-023-06103-5. PMID:37673877. IF:9,000 (Q1/2D). Document type: Article.

-Taieb G, Jentzer A, Vegezzi E, Lleixà C, Illa I, Querol L, Devaux JJ. Effect of monovalency on anti-contactin-1 IgG4. Frontiers in Immunology. 2023; 14:1021513. DOI:10.3389/fimmu.2023.1021513. PMID:36999029. IF:7,300 (Q1/3D). Document type: Article.

-van PA, Van den Bergh PYK, Hadden RDM, Avau B, Vankrunkelsven P, Attarian S, Blomkwist PH, Cornblath DR, Goedee HS, Harbo T, Jacobs BC, Kusunoki S, Lehmann HC, Lewis RA, Lunn MP, Nobile E, Querol L, Rajabally YA, Umapathi T, Topaloglu HA, Willison HJ. European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain–Barré syndrome. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2023; 28(4)DOI:10.1111/jns.12594. PMID:37814551. IF:3,800 (Q2/4D). Document type: Review.

-van PA, Van den Bergh PYK, Hadden RDM, Avau B, Vankrunkelsven P, Attarian S, Blomkwist PH, Cornblath DR, Goedee HS, Harbo T, Jacobs BC, Kusunoki S, Lehmann HC, Lewis RA, Lunn MP, Nobile E, Querol L, Rajabally YA, Umapathi T, Topaloglu HA, Willison HJ. European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain–Barré syndrome. EUROPEAN JOURNAL OF NEUROLOGY. 2023; 30(12)DOI:10.1111/ene.16073. PMID:37814552. IF:5,100 (Q1/3D). Document type: Review.

-Vazquez JF, Borrego D, Paradas C, Gomez MT, Rojas R, Varona L, Povedano M, Garcia T, Pascual IJ, Gutierrez A, Riancho J, Turon J, Assialioui A, Perez J, Sevilla T, Perez JE, Garcia A, A. Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease. EUROPEAN JOURNAL OF NEUROLOGY. 2023; 30(4)DOI:10.1111/ene.15661. PMID:36484631. IF:5,100 (Q1/3D). Document type: Article.

-Vázquez JF, Branas M, Medina J, Povedano M, Pitarch I, López M, Fernández JA, Lafuente M, Rojas R, Caballero JM, Málaga I, Eirís J, De Lemus M, Cattinari MG, Cabello R, Díaz P, Sánchez V, Rebollo P, Maurino J, Madruga M. Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study. Neurology and Therapy. 2023; 12(1)DOI:10.1007/s40120-022-00411-2. PMID:36269538. IF:3,700 (Q2/4D). Document type: Article.

-Vesperinas A, Cortés E. Rituximab treatment in myasthenia gravis. Frontiers in Neurology. 2023; 14:1275533. DOI:10.3389/fneur.2023.1275533. PMID:37849836. IF:3,400 (Q2/5D). Document type: Review.

-Weihl CC, Topf A, Bengoechea R, Duff J, Charlton R, Garcia SK, Domínguez C, Alsaman A, Hernández A, Franco LV, Sanchez M, Beecroft SJ, Goullee H, Daw J, Bhadra A, True H, Inoue M, Findlay AR, Laing N, Olivé M, Ravenscroft G, Straub V. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. ACTA NEUROPATHOLOGICA. 2023; 145(1)DOI:10.1007/s00401-022-02510-8. PMID:36264506. IF:12,700 (Q1/1D). Document type: Article.

-Xucla T, Turon J, Caballero M, Cortes E, Rojas R. Leptospirosis-induced acute acquired inflammatory neuropathy. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2023; 28(1)DOI:10.1111/jns.12525. PMID:36567442. IF:3,800 (Q2/4D). Document type: Article.

Publications 2022

(JIF 2022)

Alonso J, Carrasco A, Borrell M, Fernandez E, Pinol P, Badimon L, Wollin L, Lleixa C, Gallardo E, Olive M, Diaz J, Suarez X. Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice. Biomedicines. 2022; 10(10):2629. DOI:10.3390/biomedicines10102629. PMID:36289891. IF:4,7 (Q1/3D). Document type: Article.
Alonso J, Gonzalez L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMD, Melegh B, Hadzsiev K, Muelas N, Vilchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suarez X, Topf A, Guglieri M, Marini C, Gallano P, Straub V, Diaz J. Clinical and genetic spectrum of a large cohort of patients with delta-sarcoglycan muscular dystrophy. 2022; 145(2). DOI:10.1093/brain/awab301. PMID:34515763. IF:14,5 (Q1/1D). Document type: Article.
Alonso J, Hernandez JCD, Perez H, Mendoza MD, Gutierrez AJ, Hadjigeorgiou I, Monton F, Gonzalez L, Alonso A, Suarez X, Diaz J. Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands. EUROPEAN JOURNAL OF NEUROLOGY. 2022; 29(5). DOI:10.1111/ene.15252. PMID:35112761. IF:5,1 (Q1/2D). Document type: Article.
Alvarez R, Nunez CA, Alonso J, Gallardo E, Collet R, Reyes D, Pascual E, Martin L, Caballero M, Carbayo A, Llauger J, Diaz J, Olive M. High prevalence of paraspinal muscle involvement in adults with McArdle disease. MUSCLE & NERVE. 2022; 65(5). DOI:10.1002/mus.27523. PMID:35174518. IF:3,4 (Q2/5D). Document type: Article.
Blasco L, Costa M, Leno J, Bernal S, Alias L, Codina M, Martinez D, Castiglioni C, Bertini E, Travaglini L, Millan JM, Aller E, Sotoca J, Juntas R, Hoei CE, Moreno A, Guillen E, Costa L, Munell F, Boronat S, Rojas R, Povedano M, Cusco I, Tizzano EF. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G > C Variant in SMN2. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(15):8289. DOI:10.3390/ijms23158289. PMID:35955418. IF:5,6 (Q1/3D). Document type: Article.
Bolano C, Diaz J. Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management. Therapeutics and Clinical Risk Management. 2022; 18. DOI:10.2147/TCRM.S334232. PMID:36536827. IF:2,8 (Q3/6D). Document type: Review.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez LA, Beltran S, Schlüter A, Rodriguez A, Cáceres A, Nascimento A, García À, Cueto A, Marcé A, NELLOAR, Martínez A, et al. [Díaz-Manera J, Rojas-García R, Bernal S, Boronat S]. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS. 2022; 24(5). DOI:10.1016/j.jmoldx.2022.02.003. PMID:35569879. IF:4,1 (Q2/3D). Document type: Article.
Caballero M, Álvarez R, Moga E, Rojas R, Turon J, Querol L, Olivé M, Reyes D, Illa I, Gallardo E, Cortés E. Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia. NEUROMUSCULAR DISORDERS. 2022; 32(8). DOI:10.1016/j.nmd.2022.06.006. PMID:35811274. IF:2,8 (Q3/6D). Document type: Article.
Carrasco A, Fernandez E, Suarez X, Pinol P, Alonso J, de Luna N, Schoser B, Meinke P, Dominguez C, Hernandez A, Paradas C, Rivas E, Illa I, Olive M, Gallardo E, Diaz J. BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients. AMERICAN JOURNAL OF PATHOLOGY. 2022; 192(8). DOI:10.1016/j.ajpath.2022.05.003. PMID:35605642. IF:6 (Q1/2D). Document type: Article.
Cortes E, Alvarez R, Pla F, Rojas R, Paradas C, Sevilla T, Casasnovas C, Gomez MT, Pardo J, Ramos A, Pelayo AL, Gutierrez G, Turon J, de Munain AL, Guerrero A, Jerico I, Martin MA, Mendoza MD, Moris G, Velez B, Garcia T, Pascual E, Reyes D, Illa I, Gallardo E. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome. Annals of Clinical and Translational Neurology. 2022; 9(2). DOI:10.1002/acn3.51492. PMID:35080153. IF:5,3 (Q1/2D). Document type: Article.
Doets AY, Lingsma HF, Walgaard C, Islam B, Papri N, Davidson A, Yamagishi Y, Kusunoki S, Dimachkie MM, Waheed W, Kolb N, Islam Z, Mohammad QD, Harbo T, Sindrup SH, Chavada G, Willison HJ, Casasnovas C, Bateman K, Miller JAL, van den Berg B, Verboon C, Roodbol J, Leonhard SE, Benedetti L, Kuwabara S, van den Bergh P, Monges S, Marfia GA, Shahrizaila N, et al. [Querol L]. Predicting Outcome in Guillain-Barré Syndrome International Validation of the Modified Erasmus GBS Outcome Score. 2022; 98(5). DOI:10.1212/WNL.0000000000013139. PMID:34937789. IF:9,9 (Q1/1D). Document type: Article.
Dominguez C, Diaz C, Juntas R, Nascimiento A, Rivera A, Diaz J. Survey on the management of Pompe disease in routine clinical practice in Spain. Orphanet Journal of Rare Diseases. 2022; 17(1):426. DOI:10.1186/s13023-022-02574-5. PMID:36471448. IF:3,7 (Q2/4D). Document type: Article.
Dominguez C, Fernandez R, Moore U, de la Hoz CPDF, Velez B, Cabezas JA, Alonso J, Gonzalez L, Olive M, Garcia J, Moris G, Hernandez JCL, Muelas N, Servian E, Martin MA, Diaz J, Paradas C. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis. JOURNAL OF NEUROLOGY. 2022; 269(7). DOI:10.1007/s00415-021-10957-0. PMID:35286480. IF:6 (Q1/2D). Document type: Article.
Fernandez E, Suarez X, Carrasco A, Pinol P, Lopez S, Pons G, Serra JJB, de la Torre C, De Luna N, Gallardo E, Diaz J. RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells: implications for Duchenne muscular dystrophy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(2). DOI:10.1002/jcsm.12923. PMID:35132805. IF:8,9 (Q1/1D). Document type: Article.
Garibaldi M, Nicoletti T, Bucci E, Fionda L, Leonardi L, Morino S, Tufano L, Alfieri G, Lauletta A, Merlonghi G, Perna A, Rossi S, Ricci E, Perez JA, Tartaglione T, Petrucci A, Pennisi EM, Salvetti M, Cutter G, Diaz J, Silvestri G, Antonini G. Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials. EUROPEAN JOURNAL OF NEUROLOGY. 2022; 29(3). DOI:10.1111/ene.15174. PMID:34753219. IF:5,1 (Q1/2D). Document type: Article.
Ingelfinger F, Sparano C, Bamert D, Reyes D, Sethi A, Rindlisbacher L, Zwicky P, Kreutmair S, Widmer CC, Mundt S, Cortés E, Tugues S, Becher B, Schreiner B. Azathioprine therapy induces selective NK cell depletion and IFN-? deficiency predisposing to herpesvirus reactivation. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2022; 151(1). DOI:10.1016/j.jaci.2022.09.010. PMID:36122787. IF:9,4 (Q1/1D). Document type: Article.
Jentzer A, Attal A, Roue C, Raymond J, Lleixa C, Illa I, Querol L, Taieb G, Devaux J, Anti GRP. IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(5):e200014. DOI:10.1212/NXI.0000000000200014. PMID:35948442. IF:8,8 (Q1/1D). Document type: Article.
Koehorst E, Odria R, Capo J, Nunez J, Arbex A, Almendrote M, Linares I, Natera D, Saez V, Nascimento A, Ortez C, Rubio MA, Diaz J, Alonso J, Lucente G, Rodriguez A, Ramos A, Martinez A, Nogales G, Suelves M. An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation. Biomedicines. 2022; 10(6):1372. DOI:10.3390/biomedicines10061372. PMID:35740394. IF:4,7 (Q1/3D). Document type: Article.
Leonhard SE, van der Eijk AA, Andersen H, Antonini G, Arends S, Attarian S, Barroso FA, Bateman KJ, Batstra MR, Benedetti L, van den Berg B, Van den Bergh P, Burmann J, Busby M, Casasnovas C, Cornblath DR, Davidson A, Doets AY, van PA, de la Cour CD, Feasby TE, Fehmi J, Garcia T, Goldstein JM, Gorson KC, Granit V, Hadden RDM, Harbo T, Hartung HP, et al. [Martín-Aguilar L, Querol L]. An International Perspective on Preceding Infections in Guillain-Barre Syndrome The IGOS-1000 Cohort. NEUROLOGY. 2022; 99(12). DOI:10.1212/WNL.0000000000200885. PMID:35981895. IF:9,9 (Q1/1D). Document type: Article.
Liberatore G, De Lorenzo A, Giannotta C, Manganelli F, Filosto M, Cosentino G, Cocito D, Briani C, Cortese A, Fazio R, Lauria G, Clerici AM, Rosso T, Marfia GA, Antonini G, Cavaletti G, Carpo M, Doneddu PE, Spina E, Piccinelli SC, Peci E, Querol L, Nobile E. Frequency and clinical correlates of anti-nerve antibodies in a large population of CIDP patients included in the Italian database. NEUROLOGICAL SCIENCES. 2022; 43(6). DOI:10.1007/s10072-021-05811-0. PMID:35048233. IF:3,3 (Q2/5D). Document type: Article.
Lokken N, Revsbech KL, Jacobsen LN, Martinuzzi A, Martin MA, Diaz J, Dominguez C, Brondani G, Musumeci O, Granata F, Stefan C, Merino C, Peralta CN, Khawajazada T, Alonso J, Toscano A, Vissing J. Muscle MRI in McArdle Disease A European Multicenter Observational Study. 2022; 99(15). DOI:10.1212/WNL.0000000000200914. PMID:35853747. IF:9,9 (Q1/1D). Document type: Article.
Martín L, Lleixà C, Pascual E, Caballero M, Martínez L, Díaz J, Rojas R, Cortés E, Turon J, de Luna N, Suárez X, Gallardo E, Rajabally Y, Scotton S, Jacobs BC, Baars A, Cortese A, Vegezzi E, Höftberger R, Zimprich F, Roesler C, Nobile E, Liberatore G, Hiew FL, Martínez A, Carvajal A, Piñar R, Usón M, Albertí O, López MÁ, Márquez F, Pardo J, Muñoz L, Cabrera M, Ortiz N, Bartolomé M, Duman Ö, Bril V, Segura D, Pitarokoili K, Steen C, Illa I, Querol L. Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(1):e1098. DOI:10.1212/NXI.0000000000001098. PMID:34728497. IF:8,8 (Q1/1D). Document type: Article.
Martin L, Lleixa C, Pascual E. Autoimmune nodopathies, an emerging diagnostic category. CURRENT OPINION IN NEUROLOGY. 2022; 35(5). DOI:10.1097/WCO.0000000000001107. PMID:35989582. IF:4,8 (Q1/3D). Document type: Review.
Martín P, Fuenmayor CPD, Hernández A, Arteche A, Quesada JF, Voth AH, Vesperinas A, Olivé M, Domínguez C. Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene. MUSCLE & NERVE. 2022; 66(4). DOI:10.1002/mus.27678. PMID:35833674. IF:3,4 (Q2/5D). Document type: Letter.
Mayhew AG, James MK, Moore U, Sutherland H, Jacobs M, Feng J, Lowes LP, Alfano LN, Muni R, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa I, Holsten S, Sakamoto C, Canal A, Sánchez N, Thiele S, Siener C, Vandevelde B, DeWolf B, Maron E, Gordish H, Hilsden H, Guglieri M, Hogrel J-Y, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha DX, Salort E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori M, Bravver E, Díaz J, Pegoraro E, Mendell JR, Straub V, Jain C. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach. Frontiers in Neurology. 2022; 13:828525. DOI:10.3389/fneur.2022.828525. IF:3,4 (Q2/5D). Document type: Article.
Moore U, Araujo E, Reyngoudt H, Gordish H, Smith FE, Wilson I, James M, Mayhew A, Rufibach L, Day JW, Jones KJ, Bharucha DX, Salort E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori M, Bravver E, Pegoraro E, Mendell JR, Bushby K, Blamire AM, Straub V, Carlier PG, Diaz J. Water T2 could predict functional decline in patients with dysferlinopathy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(6)DOI:10.1002/jcsm.13063. PMID:36058852. IF:8,9 (Q1/1D). Document type: Article.
Moore U, Fernandez R, Jacobs M, Gordish H, Diaz J, James MK, Mayhew AG, Harris E, Guglieri M, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha DX, Salort E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Bourke J, Straub V, Jain C. Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study. MUSCLE & NERVE. 2022; 65(5). DOI:10.1002/mus.27524. PMID:35179231. IF:3,4 (Q2/5D). Document type: Article.
Poyatos J, Marti P, Liquori A, Muelas N, Pitarch I, Martinez L, Rodriguez B, Gonzalez L, Damia M, Aller E, Selva M, Vilchez R, Diaz J, Alonso J, Barcena JE, Jauregui A, Gamez J, Aladren JA, Fernandez A, Montolio M, Azorin I, Hervas D, Casasus A, Nieto M, Gallano P, Sevilla T, Vilchez JJ. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. ANNALS OF NEUROLOGY. 2022; 92(5). DOI:10.1002/ana.26461. PMID:35897138. IF:11,2 (Q1/1D). Document type: Article.
Querol LA, Hartung H-P, Lewis RA, van PA, Hammond TR, Atassi N, Alonso M, Dalakas MC. The Role of the Complement System in Chronic Inflammatory Demyelinating Polyneuropathy: Implications for Complement-Targeted Therapies. 2022; 19(3). DOI:10.1007/s13311-022-01221-y. PMID:35378684. IF:5,7 (Q1/2D). Document type: Review.
Ranta J, Olive M, Vandroux M, Roticiani G, Dominguez C, Johari M, Torella A, Bohm J, Turon J, Nigro V, Hackman P, Laporte J, Udd B, Savarese M. Mutation update for the ACTN2 gene. HUMAN MUTATION. 2022; 43(12)DOI:10.1002/humu.24470. PMID:36116040. IF:3,9 (Q2/3D). Document type: Article.
Reyes D, Aldecoa I, Gelpi E, Rojas R. Motor neuron involvement expands the neuropathological phenotype of late-onset ataxia in RFC1 mutation (CANVAS). BRAIN PATHOLOGY. 2022; 32(4):e13051. DOI:10.1111/bpa.13051. PMID:35001451. IF:6,4 (Q1/2D). Document type: Letter.
Reyes D, Dols O, Sirisi S, Cortes E, Turon J, De Luna N, Blesa R, Belbin O, Montal V, Alcolea D, Fortea J, Lleo A, Rojas R, Illan I. Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies. Frontiers in Neurology. 2022; 12:750543. DOI:10.3389/fneur.2021.750543. PMID:35115992. IF:3,4 (Q2/5D). Document type: Review.
Reyes D, Lopez J, Moga E, Pla F, Lynton E, Rojas R, Turon J, Querol L, Olive M, Alvarez R, Caballero M, Carbayo A, Vesperinas A, Domingo P, Illa I, Gallardo E, Cortes E. Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(4):e200002. DOI:10.1212/NXI.0000000000200002. PMID:35728947. IF:8,8 (Q1/1D). Document type: Article.
Reyngoudt H, Smith FE, Araujo E, Wilson I, Fernandez R, James MK, Moore UR, Diaz J, Marty B, Azzabou N, Gordish H, Rufibach L, Hodgson T, Wallace D, Ward L, Boisserie JM, Le J, Hilsden H, Sutherland H, Canal A, Hogrel JY, Jacobs M, Stojkovic T, Bushby K, Mayhew A, Straub V, Carlier PG, Blamire AM, Jain Clinical Outcome Study D. Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(3). DOI:10.1002/jcsm.12987. PMID:35373496. IF:8,9 (Q1/1D). Document type: Article.
Schiava M, Ikenaga C, Villar RN, Caballero M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez A, Paradas C, Pegoraro E, Nadaj A, De Bleecker J, Badrising U, Alonso A, Kostera A, Miralles F, Shin JH, Bevilacqua JA, Olive M, Vorgerd M, Kley R, Brady S, Williams T, Dominguez C, Papadimas GK, Warman J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos A, Rodolico C, Hewamadduma C, Cetin H, Garcia J, Pal E, Farrugia ME, Lamont PJ, Quinn C, Nedkova V, Peric S, Luo SS, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz J. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2022; 93(10). DOI:10.1136/jnnp-2022-328921. PMID:35896379. IF:11 (Q1/1D). Document type: Article.
Silva A, Rodrigo P, Moreno C, Mendonca RD, Estephan ED, Camelo CG, Campos ED, Dias AT, Nascimento AM, Kulikowski LD, Oliveira A, Reed UC, Goldfarb LG, Olive M, Zanoteli E. The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY. 2022; 81(9)DOI:10.1093/jnen/nlac063. PMID:35898174. IF:3,2 (Q2/5D). Document type: Article.
Statland JM, Campbell C, Desai U, Karam C, Diaz J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM. Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. MUSCLE & NERVE. 2022; 66(1). DOI:10.1002/mus.27558. PMID:35428982. IF:3,4 (Q2/5D). Document type: Article.

Publications 2021

Allen JA, Eftimov F, Querol L. Outcome measures and biomarkers in chronic inflammatory demyelinating polyradiculoneuropathy: from research to clinical practice. Expert Review of Neurotherapeutics. 2021; 21(7). DOI:10.1080/14737175.2021.1944104. PMID:34130574. IF: 4,287
Alonso A, Fernandez E, Benito DND, Ortez C, Garcia C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Pinol P, Carrasco A, Suarez X, Jimenez C, Nascimento A, Llauger J, Nunez C, Montesinos P, Alonso J, Gallardo E, Illa I, Diaz J. Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies. Frontiers in Neurology. 2021; 12:659922. DOI:10.3389/fneur.2021.659922. PMID:34177765. IF: 4,086
Alonso A, Nunez C, Montesinos P, Alonso J, Garcia C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Llauger J, Diaz J. Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease. Frontiers in Neurology. 2021; 12:675781. DOI:10.3389/fneur.2021.675781. PMID:34305788. IF: 4,086
Alonso J, Casasus A, Gimenez A, Duff J, Rojas R, Illa I, Straub V, Topf A, Diaz J. Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering. NEUROMUSCULAR DISORDERS. 2021; 31(8). DOI:10.1016/j.nmd.2021.04.011. PMID:34210542. IF: 3,538
Alvarez R, Gutierrez G, Trujillo JC, Martinez E, Segovia S, Arribas M, Fernandez G, Paradas C, Velez B, Casasnovas C, Nedkova V, Guerrero A, Ramos A, Martinez A, Pardo J, Sevilla T, Gomez MT, de Munain AL, Jerico I, Pelayo AL, Martin MA, Morgado Y, Mendoza MD, Perez H, Rojas R, Turon J, Querol L, Gallardo E, Illa I, Cortes E. Clinical characteristics and outcomes of thymoma-associated myasthenia gravis. EUROPEAN JOURNAL OF NEUROLOGY. 2021; 28(6). DOI:10.1111/ene.14820. PMID:33721382. IF: 6,288
Borrego S, Turon J, Ximelis T, Aldecoa I, Molina L, Povedano M, Rubio MA, Gamez J, Cano A, Pare M, L, Sotoca J, Clarimon J, Balasa M, Antonell A, Llado A, Sanchez R, Rojas R, Gelpi E. Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants. BRAIN PATHOLOGY. 2021; 31(3):e12942. DOI:10.1111/bpa.12942. PMID:33576076. IF: 7,611
Conde E, Reyes D, Pintor L, Donaire A, Manzanares I, Rumia J, Roldan P, Boget T, Bargallo N, Gil FJ, Khawaja M, Setoain X, Centeno M, Carreno M. Psychotic symptoms in drug resistant epilepsy patients after cortical stimulation. EPILEPSY RESEARCH. 2021; 173:106630. DOI:10.1016/j.eplepsyres.2021.106630. PMID:33865048. IF: 2,991
Diaz J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, Van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem S, Goker O, Kostera A, Haack KA, Hug C, Huynh O, Johnson J, Thibault N, Zhou TY, Dimachkie MM, Schoser B. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. LANCET NEUROLOGY. 2021; 20(12). PMID:34800399. IF: 59,935
Diaz J, Walter G, Straub V. Skeletal muscle magnetic resonance imaging in Pompe disease. MUSCLE & NERVE. 2021; 63(5). DOI:10.1002/mus.27099. PMID:33155691. IF: 3,852
Diaz J. Fifteen years of enzyme therapy in Pompe disease. REVISTA DE NEUROLOGIA. 2021; 73(9). DOI:10.33588/rn.7309.2021382. PMID:34676531. IF: 1,235
Dominguez C, Madruga M, Hirano M, Marti I, Martin MA, Munell F, Nascimento A, Olive M, Quan J, Sardina MD, Marti R, Paradas C. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency. Orphanet Journal of Rare Diseases. 2021; 16(1):407. DOI:10.1186/s13023-021-02030-w. PMID:34600563. IF: 4,303
Fionda L, Turon J, Prior PF, Noguera SB, Cortes E, Lopez MA, Gallardo E, Rojas R. A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2021; 26(1). DOI:10.1111/jns.12425. PMID:33320396. IF: 5,188
Frasquet M, Rojas R, Argente H, Vazquez JF, Muelas N, Vilchez JJ, Sivera R, Millet E, Barreiro M, Diaz J, Turon J, Cortes E, Querol L, Ramirez L, Martinez D, Sanchez A, Espinos C, Sevilla T, Lupo V. Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation. EUROPEAN JOURNAL OF NEUROLOGY. 2021; 28(4). DOI:10.1111/ene.14700. PMID:33369814. IF: 6,288
Gelber PE, Ramirez E, Grau A, Gonzalez A, Llauger J, Farinas O. A new computed tomography scoring system to assess osteochondral allograft transplantation for the knee: inter-observer and intra-observer agreement. INTERNATIONAL ORTHOPAEDICS. 2021; 45(5). DOI:10.1007/s00264-020-04927-w. PMID:33416905. IF: 3,479
Gutschmidt K, Musumeci O, Diaz J, Chien YH, Knop KC, Wenninger S, Montagnese F, Pugliese A, Tavilla G, Alonso J, Hwu PWL, Toscano A, Schoser B. STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. JOURNAL OF NEUROLOGY. 2021; 268(7). DOI:10.1007/s00415-021-10409-9. PMID:33543425. IF: 6,682
Jacobs MB, James MK, Lowes LP, Alfano LN, Eagle M, Lofra RM, Moore U, Feng J, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa I, Holsten S, Sakamoto C, Canal A, Praxedes N, Thiele S, Siener C, Vandevelde B, DeWolf B, Maron E, Guglieri M, Hogrel JY, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha DX, Salort E, Pestronk A, Walter MC, Et al. [Diaz J]. Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale. ANNALS OF NEUROLOGY. 2021; 89(5). DOI:10.1002/ana.26044. PMID:33576057. IF: 11,274
Lleixa C, Martin L, Pascual E, Franco T, Caballero M, De Luna N, Gallardo E, Suarez X, Martinez L, Diaz J, Rojas R, Cortes E, Turon J, Casasnovas C, Homedes C, Gutierrez G, Jimeno MC, Berciano J, Sedano MJ, Garcia T, Pardo J, Marquez C, Rojas I, Jerico I, Martinez E, de la Tassa GM, Dominguez C, Juarez C, Illa I, Querol L. Autoantibody screening in Guillain-Barre syndrome. Journal of Neuroinflammation. 2021; 18(1):251. DOI:10.1186/s12974-021-02301-0. PMID:34719386. IF: 9,587
Luijten LWG, Leonhard SE, van der Eijk AA, Doets AY, Appeltshauser L, Arends S, Attarian S, Benedetti L, Briani C, Casasnovas C, Castellani F, Dardiotis E, Echaniz A, Garssen MPJ, Harbo T, Huizinga R, Humm AM, Jellema K, van der Kooi AJ, Kuitwaard K, Kuntzer T, Kusunoki S, Lascano AM, Martinez E, Rinaldi S, Samijn J, Scheidegger O, Tsouni P, Vicino A, Visser LH, Walgaard C, Wang YZ, Wirtz PW, Ripellino P, Jacobs BC, Martín L, Živkovic SA. Guillain-Barre syndrome after SARS-CoV-2 infection in an international prospective cohort study. BRAIN. 2021; 144(11). DOI:10.1093/brain/awab279. PMID:34553216. IF: 15,255
Mantegazza R, Wolfe GI, Muppidi S, Wiendl H, Fujita KP, O’Brien FL, Booth H, Howard JF, Illa I, Cortés E, Díaz J, Querol LA, Rojas R, Vidal N, RSG. Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension. 2021; 96(4). DOI:10.1212/WNL.0000000000011207. PMID:33229455. IF: 11.800
Martel L, Alonso A, Bascunana H, Diaz J, Llauger J, Nunez C, Montesinos P, Webb SM, Valassi E. Prevalence of sarcopenia after remission of hypercortisolism and its impact on HRQoL. CLINICAL ENDOCRINOLOGY. 2021; 95(5). DOI:10.1111/cen.14568. PMID:34323296. IF: 3,523
Martel L, Alonso J, Bascunana H, Diaz J, Llauger J, Nunez C, Montesinos P, Webb SM, Valassi E. Intramuscular fatty infiltration and physical function in controlled acromegaly. EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2021; 185(1). DOI:10.1530/EJE-21-0209. PMID:33950861. IF: 6,558
Martin L, Camps P, Lleixa C, Pascual E, Diaz J, Rojas R, De Luna N, Gallardo E, Cortes E, Munoz L, Alcolea D, Lleo A, Casasnovas C, Homedes C, Gutierrez G, Jimeno MC, Berciano J, Sedano MJ, Garcia T, Pardo J, Marquez C, Rojas I, Jerico I, Martinez E, de la Tassa GM, Dominguez C, Illa I, Querol L. Serum neurofilament light chain predicts long-term prognosis in Guillain-Barre syndrome patients. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(1). DOI:10.1136/jnnp-2020-323899. PMID:33154183. IF: 13,654
Meca JE, Maurino J, Perez F, Forero L, Sepulveda M, Calles C, Martinez ML, Gonzalez I, Boyero S, Romero L, Sempere AP, Meca V, Querol L, Costa L, Prefasi D, Gomez R, Ballesteros J. Quantifying the patient ‘ s perspective in neuromyelitis optica spectrum disorder: Psychometric properties of the SymptoMScreen questionnaire. PLoS One. 2021; 16(7):e0255317. DOI:10.1371/journal.pone.0255317. PMID:34324586. IF: 3,752
Meca JE, Prefasi D, Perez F, Forero L, Sepulveda M, Calles C, Martinez ML, Gonzalez I, Boyero S, Romero L, Sempere AP, Meca V, Querol L, Costa L, De Castro H, Canal N, Maurino J. Perception of Stigma in Patients with Neuromyelitis Optica Spectrum Disorder. Patient Preference and Adherence. 2021; 15. DOI:10.2147/PPA.S305707. PMID:33880015. IF: 2,314
Moore U, Gordish H, Diaz J, James MK, Mayhew AG, Guglieri M, Fernandez R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha DX, Salort E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V, Jain C. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease. NEUROMUSCULAR DISORDERS. 2021; 31(4). DOI:10.1016/j.nmd.2021.01.009. PMID:33610434. IF: 3,538
Narayanaswami P, Sanders DB, Wolfe G, Benatar M, Cea G, Evoli A, Gilhus NE, Illa I, Kuntz NL, Massey J, Melms A, Murai H, Nicolle M, Palace J, Richman D, Verschuuren J. International Consensus Guidance for Management of Myasthenia Gravis 2020 Update. 2021; 96(3). DOI:10.1212/WNL.0000000000011124. PMID:33144515. IF: 11,800
Natera D, Foley AR, Dominguez C, Ortez C, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun PM, Ogata T, Medina J, Vigo M, Meilleur KG, Leach ME, Dastgir J, Diaz J, Carrera L, Exposito J, Alarcon M, Cuadras D, Montiel E, Milisenda JC, Dominguez R, Olive M, Colomer J, Jou C, Jimenez C, Bonnemann CG, Nascimento A. Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies. NEUROLOGY. 2021; 96(10). DOI:10.1212/WNL.0000000000011499. PMID:33441455. IF: 11,800
Nunez C, Montesinos P, Alonso A, Alonso J, Reyes D, Sanchez J, Llauger J, Segovia S, Belmonte I, Pedrosa I, Martinez A, Matellini B, Walter G, Diaz J. Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests. Frontiers in Neurology. 2021; 12:634766. DOI:10.3389/fneur.2021.634766. PMID:33796064. IF: 4,086
Pascual E, Fehmi J, Lleixa C, Martin L, Devaux J, Hoftberger R, Delmont E, Doppler K, Sommer C, Radunovic A, Carvajal A, Smyth S, Williams L, Mazanec R, Potockova V, Hinds N, Cassereau J, Viala K, Lefilliatre M, Nicolas G, Foley P, Leypoldt F, Keddie S, Lunn MP, Zimprich F, Nunkoo VS, Loscher WN, Martinez L, Diaz J, Rojas R, Illa I, Rinaldi S, Querol L. Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy. BRAIN. 2021; 144. PMID:33880507. IF: 15,255
Querol L, Crabtree M, Herepath M, Priedane E, Viejo IV, Agush S, Sommerer P. Systematic literature review of burden of illness in chronic inflammatory demyelinating polyneuropathy (CIDP). JOURNAL OF NEUROLOGY. 2021; 268(10). DOI:10.1007/s00415-020-09998-8. PMID:32583051. IF: 6,682
Querol L, Lleixa C. Novel Immunological and Therapeutic Insights in Guillain-Barre Syndrome and CIDP. Neurotherapeutics. 2021; 18(4). DOI:10.1007/s13311-021-01117-3. PMID:34549385. IF: 6,088
Reyes D, Alonso J, Mayos M, Nunez C, Llauger J, Belmonte I, Pedrosa I, Segovia S, Diaz J. Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients. Frontiers in Neurology. 2021; 12:621257. DOI:10.3389/fneur.2021.621257. PMID:33732206. IF: 4,086
Ripellino P, Ventura E, Querol L, Gobbi C. Chronic inflammatory demyelinating polyneuropathy with hypertrophic nerves. JOURNAL OF THE PERIPHERAL NERVOUS 2021; 26(2). DOI:10.1111/jns.12445. PMID:33881184. IF: 5,188
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS, Sebok A, Pestronk A, Dominovic A, Khan A, Koritnik B, Tard C, Lindberg C, Quinn C, Eldridge C, Bodkin C, Reyes D, Hughes D, Stefanescu E, Salort E, Butler E, et al. [Alonso J, Vidal N]. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. LANCET NEUROLOGY. 2021; 20(12). DOI:10.1016/S1474-4422(21)00331-8. PMID:34800400. IF: 59,935
Siddiqi ZA, Nowak RJ, Mozaffar T, O’Brien F, Yountz M, Patti F, Illa I, Cortés E, Díaz J, Querol LA, Rojas R, Vidal N, Nye JL. Eculizumab in refractory generalized myasthenia gravis previously treated with rituximab: subgroup analysis of REGAIN and its extension study. MUSCLE & NERVE. 2021; 64(6). DOI:10.1002/mus.27422. PMID:34590717. IF: 3,852
Sivera R, Lupo V, Frasquet M, Argente H, Alonso J, Diaz J, Querol L, Garcia MD, Pascual SI, Garcia T, Paradas C, Vazquez JF, Muelas N, Millet E, Vilchez JJ, Espinos C, Sevilla T. Charcot-Marie-Tooth disease due to MORC2 mutations in Spain. EUROPEAN JOURNAL OF NEUROLOGY. 2021; 28(9). DOI:10.1111/ene.15001. PMID:34189813. IF: 6,288
Suarez X, Fernandez E, Pinol P, Alonso J, Carrasco A, Lleixa C, Lopez S, Pons G, Soria L, Bigot A, Mouly V, Illa I, Gallardo E, Jaiswal JK, Diaz J. Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies. FASEB JOURNAL. 2021; 35(9):e21819. DOI:10.1096/fj.202100588R. PMID:34405910. IF: 5,834
Van den Bergh PYK, van PA, Hadden RDM, Avau B, Vankrunkelsven P, Allen JA, Attarian S, Blomkwist PH, Cornblath DR, Eftimov F, Goedee HS, Harbo T, Kuwabara S, Lewis RA, Lunn MP, Nobile E, Querol L, Rajabally YA, Sommer C, Topaloglu HA. European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2021; 26(3). DOI:10.1111/jns.12455. PMID:34085743. IF: 5,188
Van Rheenen W, van der Spek R, Bakker MK, van J, Hop PJ, Zwamborn R, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, et al. [Rojas R]. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. NATURE GENETICS. 2021; 53(12). DOI:10.1038/s41588-021-00973-1. PMID:34873335. IF: 41,307
Verboon C, Harbo T, Cornblath DR, Hughes R, van PA, Lunn MP, Gorson KC, Barroso F, Kuwabara S, Galassi G, Lehmann HC, Kusunoki S, Reisin RC, Binda D, Cavaletti G, Jacobs BC, Querol LA, Wirtz PW. Intravenous immunoglobulin treatment for mild Guillain-Barre syndrome: an international observational study. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(10). DOI:10.1136/jnnp-2020-325815. PMID:34103340. IF: 13,654
Wieske L, Martin L, Fehmi J, Lleixa C, Koel M, Chatterjee M, van Z, Killestein J, Verhamme C, Querol L, Rinaldi S, Teunissen CE, Eftimov F. Serum Contactin-1 in CIDP A Cross-Sectional Study. Neurology-Neuroimmunology & Neuroinflammation. 2021; 8(5):e1040. DOI:10.1212/NXI.0000000000001040. PMID:34285092. IF: 11,360

2017 Scientific Report – Neuromuscular Diseases

Introduction

Main lines of research

Autoimmune neuromuscular diseases

Characterization of new target antigens in Myasthenia Gravis, and immune neuropathies (CIDP, GBS, MMN). Their use as diagnostic and therapeutic biomarkers.
Pathogenesis of newly recognized paranodal antigens in CIDP.
Analysis of the innate immunity in inflammatory myopathies.
Analysis of the impact of new immunomodulating therapies on IgG4 mediated Neuromuscular Diseases (NMD).
Functional aspects of immune system cells (response to ligands, production of
antibodies, etc).
IGOS data base for Guillain Barre syndrome.
NMD-ES Spanish registry for neuromuscular diseases.

Muscular dystrophy, dysferlinopathy and distal myopathies

Muscle MRI analysis as a biomarker of different muscular dystrophies.
Study of miRNA profiles and muscle secretome in muscular dystrophies.
Role of PDGF in muscular dystrophies fibrosis.
Natural history of Dysferlinopathies. The international COS-study Jain Foundation.
To evaluate the frequency of carriers of mutations in the dyferlin gene in normal
population.

Amyotrophic lateral sclerosis

Epidemiology of ALS in Catalonia.
Gene profile of ALS patients in Spain.
Biomarkers profile in different phenotypes of ALS.

Challenges

Advance in the knowledge of the immunological mechanisms involved in the pathogenesis of autoimmune neuromuscular diseases (MG, CIDP, MMN).
Advance in the knowledge of the pathogenetic mechanisms of inflammatory myopathies (DM, PM, IBM).
Search for new antigens and develop diagnostic tests with new biomarkers in immune –mediated neuropathies and Myasthenia Gravis.
Implement new diagnostic and disease follow-up methods for muscular dystrophies resulting from dysferlinopathy and other myopathies research (biomarkers (miRNA, secretome), MRI, etc).
Advance in the knowledge of the pathogenetic mechanisms involved in muscular dystrophy resulting from dysferlin deficiency and other muscular dystrophies.
Cleanroom access to manipulate cells for use in humans.
Use of the NMD.ES registry to perform research in different NMD.

Additional information : Neuromuscularbcn

Team

Group coordination

OLIVE PLANA, MONTSERRAT FGS
molive@santpau.cat

Members

Scientific output

Publications 2023

(JIF 2022)

-van PA, Van den Bergh PYK, Hadden RDM, Avau B, Vankrunkelsven P, Attarian S, Blomkwist PH, Cornblath DR, Goedee HS, Harbo T, Jacobs BC, Kusunoki S, Lehmann HC, Lewis RA, Lunn MP, Nobile E, Querol L, Rajabally YA, Umapathi T, Topaloglu HA, Willison HJ. European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain–Barré syndrome. EUROPEAN JOURNAL OF NEUROLOGY. 2023; 30(12)DOI:10.1111/ene.16073. PMID:37814552. IF:5,100 (Q1/3D). Document type: Review.

-Vesperinas A, Cortés E. Rituximab treatment in myasthenia gravis. Frontiers in Neurology. 2023; 14:1275533. DOI:10.3389/fneur.2023.1275533. PMID:37849836. IF:3,400 (Q2/5D). Document type: Review.

Publications 2022

(JIF 2022)

Alonso J, Carrasco A, Borrell M, Fernandez E, Pinol P, Badimon L, Wollin L, Lleixa C, Gallardo E, Olive M, Diaz J, Suarez X. Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice. Biomedicines. 2022; 10(10):2629. DOI:10.3390/biomedicines10102629. PMID:36289891. IF:4,7 (Q1/3D). Document type: Article.
Alonso J, Gonzalez L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMD, Melegh B, Hadzsiev K, Muelas N, Vilchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suarez X, Topf A, Guglieri M, Marini C, Gallano P, Straub V, Diaz J. Clinical and genetic spectrum of a large cohort of patients with delta-sarcoglycan muscular dystrophy. 2022; 145(2). DOI:10.1093/brain/awab301. PMID:34515763. IF:14,5 (Q1/1D). Document type: Article.
Alonso J, Hernandez JCD, Perez H, Mendoza MD, Gutierrez AJ, Hadjigeorgiou I, Monton F, Gonzalez L, Alonso A, Suarez X, Diaz J. Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands. EUROPEAN JOURNAL OF NEUROLOGY. 2022; 29(5). DOI:10.1111/ene.15252. PMID:35112761. IF:5,1 (Q1/2D). Document type: Article.
Alvarez R, Nunez CA, Alonso J, Gallardo E, Collet R, Reyes D, Pascual E, Martin L, Caballero M, Carbayo A, Llauger J, Diaz J, Olive M. High prevalence of paraspinal muscle involvement in adults with McArdle disease. MUSCLE & NERVE. 2022; 65(5). DOI:10.1002/mus.27523. PMID:35174518. IF:3,4 (Q2/5D). Document type: Article.
Blasco L, Costa M, Leno J, Bernal S, Alias L, Codina M, Martinez D, Castiglioni C, Bertini E, Travaglini L, Millan JM, Aller E, Sotoca J, Juntas R, Hoei CE, Moreno A, Guillen E, Costa L, Munell F, Boronat S, Rojas R, Povedano M, Cusco I, Tizzano EF. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G > C Variant in SMN2. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(15):8289. DOI:10.3390/ijms23158289. PMID:35955418. IF:5,6 (Q1/3D). Document type: Article.
Bolano C, Diaz J. Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management. Therapeutics and Clinical Risk Management. 2022; 18. DOI:10.2147/TCRM.S334232. PMID:36536827. IF:2,8 (Q3/6D). Document type: Review.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez LA, Beltran S, Schlüter A, Rodriguez A, Cáceres A, Nascimento A, García À, Cueto A, Marcé A, NELLOAR, Martínez A, et al. [Díaz-Manera J, Rojas-García R, Bernal S, Boronat S]. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS. 2022; 24(5). DOI:10.1016/j.jmoldx.2022.02.003. PMID:35569879. IF:4,1 (Q2/3D). Document type: Article.
Caballero M, Álvarez R, Moga E, Rojas R, Turon J, Querol L, Olivé M, Reyes D, Illa I, Gallardo E, Cortés E. Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia. NEUROMUSCULAR DISORDERS. 2022; 32(8). DOI:10.1016/j.nmd.2022.06.006. PMID:35811274. IF:2,8 (Q3/6D). Document type: Article.
Carrasco A, Fernandez E, Suarez X, Pinol P, Alonso J, de Luna N, Schoser B, Meinke P, Dominguez C, Hernandez A, Paradas C, Rivas E, Illa I, Olive M, Gallardo E, Diaz J. BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients. AMERICAN JOURNAL OF PATHOLOGY. 2022; 192(8). DOI:10.1016/j.ajpath.2022.05.003. PMID:35605642. IF:6 (Q1/2D). Document type: Article.
Cortes E, Alvarez R, Pla F, Rojas R, Paradas C, Sevilla T, Casasnovas C, Gomez MT, Pardo J, Ramos A, Pelayo AL, Gutierrez G, Turon J, de Munain AL, Guerrero A, Jerico I, Martin MA, Mendoza MD, Moris G, Velez B, Garcia T, Pascual E, Reyes D, Illa I, Gallardo E. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome. Annals of Clinical and Translational Neurology. 2022; 9(2). DOI:10.1002/acn3.51492. PMID:35080153. IF:5,3 (Q1/2D). Document type: Article.
Doets AY, Lingsma HF, Walgaard C, Islam B, Papri N, Davidson A, Yamagishi Y, Kusunoki S, Dimachkie MM, Waheed W, Kolb N, Islam Z, Mohammad QD, Harbo T, Sindrup SH, Chavada G, Willison HJ, Casasnovas C, Bateman K, Miller JAL, van den Berg B, Verboon C, Roodbol J, Leonhard SE, Benedetti L, Kuwabara S, van den Bergh P, Monges S, Marfia GA, Shahrizaila N, et al. [Querol L]. Predicting Outcome in Guillain-Barré Syndrome International Validation of the Modified Erasmus GBS Outcome Score. 2022; 98(5). DOI:10.1212/WNL.0000000000013139. PMID:34937789. IF:9,9 (Q1/1D). Document type: Article.
Dominguez C, Diaz C, Juntas R, Nascimiento A, Rivera A, Diaz J. Survey on the management of Pompe disease in routine clinical practice in Spain. Orphanet Journal of Rare Diseases. 2022; 17(1):426. DOI:10.1186/s13023-022-02574-5. PMID:36471448. IF:3,7 (Q2/4D). Document type: Article.
Dominguez C, Fernandez R, Moore U, de la Hoz CPDF, Velez B, Cabezas JA, Alonso J, Gonzalez L, Olive M, Garcia J, Moris G, Hernandez JCL, Muelas N, Servian E, Martin MA, Diaz J, Paradas C. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis. JOURNAL OF NEUROLOGY. 2022; 269(7). DOI:10.1007/s00415-021-10957-0. PMID:35286480. IF:6 (Q1/2D). Document type: Article.
Fernandez E, Suarez X, Carrasco A, Pinol P, Lopez S, Pons G, Serra JJB, de la Torre C, De Luna N, Gallardo E, Diaz J. RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells: implications for Duchenne muscular dystrophy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(2). DOI:10.1002/jcsm.12923. PMID:35132805. IF:8,9 (Q1/1D). Document type: Article.
Garibaldi M, Nicoletti T, Bucci E, Fionda L, Leonardi L, Morino S, Tufano L, Alfieri G, Lauletta A, Merlonghi G, Perna A, Rossi S, Ricci E, Perez JA, Tartaglione T, Petrucci A, Pennisi EM, Salvetti M, Cutter G, Diaz J, Silvestri G, Antonini G. Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials. EUROPEAN JOURNAL OF NEUROLOGY. 2022; 29(3). DOI:10.1111/ene.15174. PMID:34753219. IF:5,1 (Q1/2D). Document type: Article.
Ingelfinger F, Sparano C, Bamert D, Reyes D, Sethi A, Rindlisbacher L, Zwicky P, Kreutmair S, Widmer CC, Mundt S, Cortés E, Tugues S, Becher B, Schreiner B. Azathioprine therapy induces selective NK cell depletion and IFN-? deficiency predisposing to herpesvirus reactivation. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2022; 151(1). DOI:10.1016/j.jaci.2022.09.010. PMID:36122787. IF:9,4 (Q1/1D). Document type: Article.
Jentzer A, Attal A, Roue C, Raymond J, Lleixa C, Illa I, Querol L, Taieb G, Devaux J, Anti GRP. IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(5):e200014. DOI:10.1212/NXI.0000000000200014. PMID:35948442. IF:8,8 (Q1/1D). Document type: Article.
Koehorst E, Odria R, Capo J, Nunez J, Arbex A, Almendrote M, Linares I, Natera D, Saez V, Nascimento A, Ortez C, Rubio MA, Diaz J, Alonso J, Lucente G, Rodriguez A, Ramos A, Martinez A, Nogales G, Suelves M. An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation. Biomedicines. 2022; 10(6):1372. DOI:10.3390/biomedicines10061372. PMID:35740394. IF:4,7 (Q1/3D). Document type: Article.
Leonhard SE, van der Eijk AA, Andersen H, Antonini G, Arends S, Attarian S, Barroso FA, Bateman KJ, Batstra MR, Benedetti L, van den Berg B, Van den Bergh P, Burmann J, Busby M, Casasnovas C, Cornblath DR, Davidson A, Doets AY, van PA, de la Cour CD, Feasby TE, Fehmi J, Garcia T, Goldstein JM, Gorson KC, Granit V, Hadden RDM, Harbo T, Hartung HP, et al. [Martín-Aguilar L, Querol L]. An International Perspective on Preceding Infections in Guillain-Barre Syndrome The IGOS-1000 Cohort. NEUROLOGY. 2022; 99(12). DOI:10.1212/WNL.0000000000200885. PMID:35981895. IF:9,9 (Q1/1D). Document type: Article.
Liberatore G, De Lorenzo A, Giannotta C, Manganelli F, Filosto M, Cosentino G, Cocito D, Briani C, Cortese A, Fazio R, Lauria G, Clerici AM, Rosso T, Marfia GA, Antonini G, Cavaletti G, Carpo M, Doneddu PE, Spina E, Piccinelli SC, Peci E, Querol L, Nobile E. Frequency and clinical correlates of anti-nerve antibodies in a large population of CIDP patients included in the Italian database. NEUROLOGICAL SCIENCES. 2022; 43(6). DOI:10.1007/s10072-021-05811-0. PMID:35048233. IF:3,3 (Q2/5D). Document type: Article.
Lokken N, Revsbech KL, Jacobsen LN, Martinuzzi A, Martin MA, Diaz J, Dominguez C, Brondani G, Musumeci O, Granata F, Stefan C, Merino C, Peralta CN, Khawajazada T, Alonso J, Toscano A, Vissing J. Muscle MRI in McArdle Disease A European Multicenter Observational Study. 2022; 99(15). DOI:10.1212/WNL.0000000000200914. PMID:35853747. IF:9,9 (Q1/1D). Document type: Article.
Martín L, Lleixà C, Pascual E, Caballero M, Martínez L, Díaz J, Rojas R, Cortés E, Turon J, de Luna N, Suárez X, Gallardo E, Rajabally Y, Scotton S, Jacobs BC, Baars A, Cortese A, Vegezzi E, Höftberger R, Zimprich F, Roesler C, Nobile E, Liberatore G, Hiew FL, Martínez A, Carvajal A, Piñar R, Usón M, Albertí O, López MÁ, Márquez F, Pardo J, Muñoz L, Cabrera M, Ortiz N, Bartolomé M, Duman Ö, Bril V, Segura D, Pitarokoili K, Steen C, Illa I, Querol L. Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(1):e1098. DOI:10.1212/NXI.0000000000001098. PMID:34728497. IF:8,8 (Q1/1D). Document type: Article.
Martin L, Lleixa C, Pascual E. Autoimmune nodopathies, an emerging diagnostic category. CURRENT OPINION IN NEUROLOGY. 2022; 35(5). DOI:10.1097/WCO.0000000000001107. PMID:35989582. IF:4,8 (Q1/3D). Document type: Review.
Martín P, Fuenmayor CPD, Hernández A, Arteche A, Quesada JF, Voth AH, Vesperinas A, Olivé M, Domínguez C. Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene. MUSCLE & NERVE. 2022; 66(4). DOI:10.1002/mus.27678. PMID:35833674. IF:3,4 (Q2/5D). Document type: Letter.
Mayhew AG, James MK, Moore U, Sutherland H, Jacobs M, Feng J, Lowes LP, Alfano LN, Muni R, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa I, Holsten S, Sakamoto C, Canal A, Sánchez N, Thiele S, Siener C, Vandevelde B, DeWolf B, Maron E, Gordish H, Hilsden H, Guglieri M, Hogrel J-Y, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha DX, Salort E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori M, Bravver E, Díaz J, Pegoraro E, Mendell JR, Straub V, Jain C. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach. Frontiers in Neurology. 2022; 13:828525. DOI:10.3389/fneur.2022.828525. IF:3,4 (Q2/5D). Document type: Article.
Moore U, Araujo E, Reyngoudt H, Gordish H, Smith FE, Wilson I, James M, Mayhew A, Rufibach L, Day JW, Jones KJ, Bharucha DX, Salort E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori M, Bravver E, Pegoraro E, Mendell JR, Bushby K, Blamire AM, Straub V, Carlier PG, Diaz J. Water T2 could predict functional decline in patients with dysferlinopathy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(6)DOI:10.1002/jcsm.13063. PMID:36058852. IF:8,9 (Q1/1D). Document type: Article.
Moore U, Fernandez R, Jacobs M, Gordish H, Diaz J, James MK, Mayhew AG, Harris E, Guglieri M, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha DX, Salort E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Bourke J, Straub V, Jain C. Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study. MUSCLE & NERVE. 2022; 65(5). DOI:10.1002/mus.27524. PMID:35179231. IF:3,4 (Q2/5D). Document type: Article.
Poyatos J, Marti P, Liquori A, Muelas N, Pitarch I, Martinez L, Rodriguez B, Gonzalez L, Damia M, Aller E, Selva M, Vilchez R, Diaz J, Alonso J, Barcena JE, Jauregui A, Gamez J, Aladren JA, Fernandez A, Montolio M, Azorin I, Hervas D, Casasus A, Nieto M, Gallano P, Sevilla T, Vilchez JJ. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. ANNALS OF NEUROLOGY. 2022; 92(5). DOI:10.1002/ana.26461. PMID:35897138. IF:11,2 (Q1/1D). Document type: Article.
Querol LA, Hartung H-P, Lewis RA, van PA, Hammond TR, Atassi N, Alonso M, Dalakas MC. The Role of the Complement System in Chronic Inflammatory Demyelinating Polyneuropathy: Implications for Complement-Targeted Therapies. 2022; 19(3). DOI:10.1007/s13311-022-01221-y. PMID:35378684. IF:5,7 (Q1/2D). Document type: Review.
Ranta J, Olive M, Vandroux M, Roticiani G, Dominguez C, Johari M, Torella A, Bohm J, Turon J, Nigro V, Hackman P, Laporte J, Udd B, Savarese M. Mutation update for the ACTN2 gene. HUMAN MUTATION. 2022; 43(12)DOI:10.1002/humu.24470. PMID:36116040. IF:3,9 (Q2/3D). Document type: Article.
Reyes D, Aldecoa I, Gelpi E, Rojas R. Motor neuron involvement expands the neuropathological phenotype of late-onset ataxia in RFC1 mutation (CANVAS). BRAIN PATHOLOGY. 2022; 32(4):e13051. DOI:10.1111/bpa.13051. PMID:35001451. IF:6,4 (Q1/2D). Document type: Letter.
Reyes D, Dols O, Sirisi S, Cortes E, Turon J, De Luna N, Blesa R, Belbin O, Montal V, Alcolea D, Fortea J, Lleo A, Rojas R, Illan I. Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies. Frontiers in Neurology. 2022; 12:750543. DOI:10.3389/fneur.2021.750543. PMID:35115992. IF:3,4 (Q2/5D). Document type: Review.
Reyes D, Lopez J, Moga E, Pla F, Lynton E, Rojas R, Turon J, Querol L, Olive M, Alvarez R, Caballero M, Carbayo A, Vesperinas A, Domingo P, Illa I, Gallardo E, Cortes E. Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(4):e200002. DOI:10.1212/NXI.0000000000200002. PMID:35728947. IF:8,8 (Q1/1D). Document type: Article.
Reyngoudt H, Smith FE, Araujo E, Wilson I, Fernandez R, James MK, Moore UR, Diaz J, Marty B, Azzabou N, Gordish H, Rufibach L, Hodgson T, Wallace D, Ward L, Boisserie JM, Le J, Hilsden H, Sutherland H, Canal A, Hogrel JY, Jacobs M, Stojkovic T, Bushby K, Mayhew A, Straub V, Carlier PG, Blamire AM, Jain Clinical Outcome Study D. Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(3). DOI:10.1002/jcsm.12987. PMID:35373496. IF:8,9 (Q1/1D). Document type: Article.
Schiava M, Ikenaga C, Villar RN, Caballero M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez A, Paradas C, Pegoraro E, Nadaj A, De Bleecker J, Badrising U, Alonso A, Kostera A, Miralles F, Shin JH, Bevilacqua JA, Olive M, Vorgerd M, Kley R, Brady S, Williams T, Dominguez C, Papadimas GK, Warman J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos A, Rodolico C, Hewamadduma C, Cetin H, Garcia J, Pal E, Farrugia ME, Lamont PJ, Quinn C, Nedkova V, Peric S, Luo SS, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz J. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2022; 93(10). DOI:10.1136/jnnp-2022-328921. PMID:35896379. IF:11 (Q1/1D). Document type: Article.
Silva A, Rodrigo P, Moreno C, Mendonca RD, Estephan ED, Camelo CG, Campos ED, Dias AT, Nascimento AM, Kulikowski LD, Oliveira A, Reed UC, Goldfarb LG, Olive M, Zanoteli E. The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY. 2022; 81(9)DOI:10.1093/jnen/nlac063. PMID:35898174. IF:3,2 (Q2/5D). Document type: Article.
Statland JM, Campbell C, Desai U, Karam C, Diaz J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM. Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. MUSCLE & NERVE. 2022; 66(1). DOI:10.1002/mus.27558. PMID:35428982. IF:3,4 (Q2/5D). Document type: Article.

Publications 2021

Allen JA, Eftimov F, Querol L. Outcome measures and biomarkers in chronic inflammatory demyelinating polyradiculoneuropathy: from research to clinical practice. Expert Review of Neurotherapeutics. 2021; 21(7). DOI:10.1080/14737175.2021.1944104. PMID:34130574. IF: 4,287
Alonso A, Fernandez E, Benito DND, Ortez C, Garcia C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Pinol P, Carrasco A, Suarez X, Jimenez C, Nascimento A, Llauger J, Nunez C, Montesinos P, Alonso J, Gallardo E, Illa I, Diaz J. Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies. Frontiers in Neurology. 2021; 12:659922. DOI:10.3389/fneur.2021.659922. PMID:34177765. IF: 4,086
Alonso A, Nunez C, Montesinos P, Alonso J, Garcia C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Llauger J, Diaz J. Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease. Frontiers in Neurology. 2021; 12:675781. DOI:10.3389/fneur.2021.675781. PMID:34305788. IF: 4,086
Alonso J, Casasus A, Gimenez A, Duff J, Rojas R, Illa I, Straub V, Topf A, Diaz J. Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering. NEUROMUSCULAR DISORDERS. 2021; 31(8). DOI:10.1016/j.nmd.2021.04.011. PMID:34210542. IF: 3,538
Alvarez R, Gutierrez G, Trujillo JC, Martinez E, Segovia S, Arribas M, Fernandez G, Paradas C, Velez B, Casasnovas C, Nedkova V, Guerrero A, Ramos A, Martinez A, Pardo J, Sevilla T, Gomez MT, de Munain AL, Jerico I, Pelayo AL, Martin MA, Morgado Y, Mendoza MD, Perez H, Rojas R, Turon J, Querol L, Gallardo E, Illa I, Cortes E. Clinical characteristics and outcomes of thymoma-associated myasthenia gravis. EUROPEAN JOURNAL OF NEUROLOGY. 2021; 28(6). DOI:10.1111/ene.14820. PMID:33721382. IF: 6,288
Borrego S, Turon J, Ximelis T, Aldecoa I, Molina L, Povedano M, Rubio MA, Gamez J, Cano A, Pare M, L, Sotoca J, Clarimon J, Balasa M, Antonell A, Llado A, Sanchez R, Rojas R, Gelpi E. Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants. BRAIN PATHOLOGY. 2021; 31(3):e12942. DOI:10.1111/bpa.12942. PMID:33576076. IF: 7,611
Conde E, Reyes D, Pintor L, Donaire A, Manzanares I, Rumia J, Roldan P, Boget T, Bargallo N, Gil FJ, Khawaja M, Setoain X, Centeno M, Carreno M. Psychotic symptoms in drug resistant epilepsy patients after cortical stimulation. EPILEPSY RESEARCH. 2021; 173:106630. DOI:10.1016/j.eplepsyres.2021.106630. PMID:33865048. IF: 2,991
Diaz J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, Van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem S, Goker O, Kostera A, Haack KA, Hug C, Huynh O, Johnson J, Thibault N, Zhou TY, Dimachkie MM, Schoser B. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. LANCET NEUROLOGY. 2021; 20(12). PMID:34800399. IF: 59,935
Diaz J, Walter G, Straub V. Skeletal muscle magnetic resonance imaging in Pompe disease. MUSCLE & NERVE. 2021; 63(5). DOI:10.1002/mus.27099. PMID:33155691. IF: 3,852
Diaz J. Fifteen years of enzyme therapy in Pompe disease. REVISTA DE NEUROLOGIA. 2021; 73(9). DOI:10.33588/rn.7309.2021382. PMID:34676531. IF: 1,235
Dominguez C, Madruga M, Hirano M, Marti I, Martin MA, Munell F, Nascimento A, Olive M, Quan J, Sardina MD, Marti R, Paradas C. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency. Orphanet Journal of Rare Diseases. 2021; 16(1):407. DOI:10.1186/s13023-021-02030-w. PMID:34600563. IF: 4,303
Fionda L, Turon J, Prior PF, Noguera SB, Cortes E, Lopez MA, Gallardo E, Rojas R. A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2021; 26(1). DOI:10.1111/jns.12425. PMID:33320396. IF: 5,188
Frasquet M, Rojas R, Argente H, Vazquez JF, Muelas N, Vilchez JJ, Sivera R, Millet E, Barreiro M, Diaz J, Turon J, Cortes E, Querol L, Ramirez L, Martinez D, Sanchez A, Espinos C, Sevilla T, Lupo V. Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation. EUROPEAN JOURNAL OF NEUROLOGY. 2021; 28(4). DOI:10.1111/ene.14700. PMID:33369814. IF: 6,288
Gelber PE, Ramirez E, Grau A, Gonzalez A, Llauger J, Farinas O. A new computed tomography scoring system to assess osteochondral allograft transplantation for the knee: inter-observer and intra-observer agreement. INTERNATIONAL ORTHOPAEDICS. 2021; 45(5). DOI:10.1007/s00264-020-04927-w. PMID:33416905. IF: 3,479
Gutschmidt K, Musumeci O, Diaz J, Chien YH, Knop KC, Wenninger S, Montagnese F, Pugliese A, Tavilla G, Alonso J, Hwu PWL, Toscano A, Schoser B. STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. JOURNAL OF NEUROLOGY. 2021; 268(7). DOI:10.1007/s00415-021-10409-9. PMID:33543425. IF: 6,682
Jacobs MB, James MK, Lowes LP, Alfano LN, Eagle M, Lofra RM, Moore U, Feng J, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa I, Holsten S, Sakamoto C, Canal A, Praxedes N, Thiele S, Siener C, Vandevelde B, DeWolf B, Maron E, Guglieri M, Hogrel JY, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha DX, Salort E, Pestronk A, Walter MC, Et al. [Diaz J]. Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale. ANNALS OF NEUROLOGY. 2021; 89(5). DOI:10.1002/ana.26044. PMID:33576057. IF: 11,274
Lleixa C, Martin L, Pascual E, Franco T, Caballero M, De Luna N, Gallardo E, Suarez X, Martinez L, Diaz J, Rojas R, Cortes E, Turon J, Casasnovas C, Homedes C, Gutierrez G, Jimeno MC, Berciano J, Sedano MJ, Garcia T, Pardo J, Marquez C, Rojas I, Jerico I, Martinez E, de la Tassa GM, Dominguez C, Juarez C, Illa I, Querol L. Autoantibody screening in Guillain-Barre syndrome. Journal of Neuroinflammation. 2021; 18(1):251. DOI:10.1186/s12974-021-02301-0. PMID:34719386. IF: 9,587
Luijten LWG, Leonhard SE, van der Eijk AA, Doets AY, Appeltshauser L, Arends S, Attarian S, Benedetti L, Briani C, Casasnovas C, Castellani F, Dardiotis E, Echaniz A, Garssen MPJ, Harbo T, Huizinga R, Humm AM, Jellema K, van der Kooi AJ, Kuitwaard K, Kuntzer T, Kusunoki S, Lascano AM, Martinez E, Rinaldi S, Samijn J, Scheidegger O, Tsouni P, Vicino A, Visser LH, Walgaard C, Wang YZ, Wirtz PW, Ripellino P, Jacobs BC, Martín L, Živkovic SA. Guillain-Barre syndrome after SARS-CoV-2 infection in an international prospective cohort study. BRAIN. 2021; 144(11). DOI:10.1093/brain/awab279. PMID:34553216. IF: 15,255
Mantegazza R, Wolfe GI, Muppidi S, Wiendl H, Fujita KP, O’Brien FL, Booth H, Howard JF, Illa I, Cortés E, Díaz J, Querol LA, Rojas R, Vidal N, RSG. Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension. 2021; 96(4). DOI:10.1212/WNL.0000000000011207. PMID:33229455. IF: 11.800
Martel L, Alonso A, Bascunana H, Diaz J, Llauger J, Nunez C, Montesinos P, Webb SM, Valassi E. Prevalence of sarcopenia after remission of hypercortisolism and its impact on HRQoL. CLINICAL ENDOCRINOLOGY. 2021; 95(5). DOI:10.1111/cen.14568. PMID:34323296. IF: 3,523
Martel L, Alonso J, Bascunana H, Diaz J, Llauger J, Nunez C, Montesinos P, Webb SM, Valassi E. Intramuscular fatty infiltration and physical function in controlled acromegaly. EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2021; 185(1). DOI:10.1530/EJE-21-0209. PMID:33950861. IF: 6,558
Martin L, Camps P, Lleixa C, Pascual E, Diaz J, Rojas R, De Luna N, Gallardo E, Cortes E, Munoz L, Alcolea D, Lleo A, Casasnovas C, Homedes C, Gutierrez G, Jimeno MC, Berciano J, Sedano MJ, Garcia T, Pardo J, Marquez C, Rojas I, Jerico I, Martinez E, de la Tassa GM, Dominguez C, Illa I, Querol L. Serum neurofilament light chain predicts long-term prognosis in Guillain-Barre syndrome patients. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(1). DOI:10.1136/jnnp-2020-323899. PMID:33154183. IF: 13,654
Meca JE, Maurino J, Perez F, Forero L, Sepulveda M, Calles C, Martinez ML, Gonzalez I, Boyero S, Romero L, Sempere AP, Meca V, Querol L, Costa L, Prefasi D, Gomez R, Ballesteros J. Quantifying the patient ‘ s perspective in neuromyelitis optica spectrum disorder: Psychometric properties of the SymptoMScreen questionnaire. PLoS One. 2021; 16(7):e0255317. DOI:10.1371/journal.pone.0255317. PMID:34324586. IF: 3,752
Meca JE, Prefasi D, Perez F, Forero L, Sepulveda M, Calles C, Martinez ML, Gonzalez I, Boyero S, Romero L, Sempere AP, Meca V, Querol L, Costa L, De Castro H, Canal N, Maurino J. Perception of Stigma in Patients with Neuromyelitis Optica Spectrum Disorder. Patient Preference and Adherence. 2021; 15. DOI:10.2147/PPA.S305707. PMID:33880015. IF: 2,314
Moore U, Gordish H, Diaz J, James MK, Mayhew AG, Guglieri M, Fernandez R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha DX, Salort E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V, Jain C. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease. NEUROMUSCULAR DISORDERS. 2021; 31(4). DOI:10.1016/j.nmd.2021.01.009. PMID:33610434. IF: 3,538
Narayanaswami P, Sanders DB, Wolfe G, Benatar M, Cea G, Evoli A, Gilhus NE, Illa I, Kuntz NL, Massey J, Melms A, Murai H, Nicolle M, Palace J, Richman D, Verschuuren J. International Consensus Guidance for Management of Myasthenia Gravis 2020 Update. 2021; 96(3). DOI:10.1212/WNL.0000000000011124. PMID:33144515. IF: 11,800
Natera D, Foley AR, Dominguez C, Ortez C, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun PM, Ogata T, Medina J, Vigo M, Meilleur KG, Leach ME, Dastgir J, Diaz J, Carrera L, Exposito J, Alarcon M, Cuadras D, Montiel E, Milisenda JC, Dominguez R, Olive M, Colomer J, Jou C, Jimenez C, Bonnemann CG, Nascimento A. Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies. NEUROLOGY. 2021; 96(10). DOI:10.1212/WNL.0000000000011499. PMID:33441455. IF: 11,800
Nunez C, Montesinos P, Alonso A, Alonso J, Reyes D, Sanchez J, Llauger J, Segovia S, Belmonte I, Pedrosa I, Martinez A, Matellini B, Walter G, Diaz J. Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests. Frontiers in Neurology. 2021; 12:634766. DOI:10.3389/fneur.2021.634766. PMID:33796064. IF: 4,086
Pascual E, Fehmi J, Lleixa C, Martin L, Devaux J, Hoftberger R, Delmont E, Doppler K, Sommer C, Radunovic A, Carvajal A, Smyth S, Williams L, Mazanec R, Potockova V, Hinds N, Cassereau J, Viala K, Lefilliatre M, Nicolas G, Foley P, Leypoldt F, Keddie S, Lunn MP, Zimprich F, Nunkoo VS, Loscher WN, Martinez L, Diaz J, Rojas R, Illa I, Rinaldi S, Querol L. Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy. BRAIN. 2021; 144. PMID:33880507. IF: 15,255
Querol L, Crabtree M, Herepath M, Priedane E, Viejo IV, Agush S, Sommerer P. Systematic literature review of burden of illness in chronic inflammatory demyelinating polyneuropathy (CIDP). JOURNAL OF NEUROLOGY. 2021; 268(10). DOI:10.1007/s00415-020-09998-8. PMID:32583051. IF: 6,682
Querol L, Lleixa C. Novel Immunological and Therapeutic Insights in Guillain-Barre Syndrome and CIDP. Neurotherapeutics. 2021; 18(4). DOI:10.1007/s13311-021-01117-3. PMID:34549385. IF: 6,088
Reyes D, Alonso J, Mayos M, Nunez C, Llauger J, Belmonte I, Pedrosa I, Segovia S, Diaz J. Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients. Frontiers in Neurology. 2021; 12:621257. DOI:10.3389/fneur.2021.621257. PMID:33732206. IF: 4,086
Ripellino P, Ventura E, Querol L, Gobbi C. Chronic inflammatory demyelinating polyneuropathy with hypertrophic nerves. JOURNAL OF THE PERIPHERAL NERVOUS 2021; 26(2). DOI:10.1111/jns.12445. PMID:33881184. IF: 5,188
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS, Sebok A, Pestronk A, Dominovic A, Khan A, Koritnik B, Tard C, Lindberg C, Quinn C, Eldridge C, Bodkin C, Reyes D, Hughes D, Stefanescu E, Salort E, Butler E, et al. [Alonso J, Vidal N]. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. LANCET NEUROLOGY. 2021; 20(12). DOI:10.1016/S1474-4422(21)00331-8. PMID:34800400. IF: 59,935
Siddiqi ZA, Nowak RJ, Mozaffar T, O’Brien F, Yountz M, Patti F, Illa I, Cortés E, Díaz J, Querol LA, Rojas R, Vidal N, Nye JL. Eculizumab in refractory generalized myasthenia gravis previously treated with rituximab: subgroup analysis of REGAIN and its extension study. MUSCLE & NERVE. 2021; 64(6). DOI:10.1002/mus.27422. PMID:34590717. IF: 3,852
Sivera R, Lupo V, Frasquet M, Argente H, Alonso J, Diaz J, Querol L, Garcia MD, Pascual SI, Garcia T, Paradas C, Vazquez JF, Muelas N, Millet E, Vilchez JJ, Espinos C, Sevilla T. Charcot-Marie-Tooth disease due to MORC2 mutations in Spain. EUROPEAN JOURNAL OF NEUROLOGY. 2021; 28(9). DOI:10.1111/ene.15001. PMID:34189813. IF: 6,288
Suarez X, Fernandez E, Pinol P, Alonso J, Carrasco A, Lleixa C, Lopez S, Pons G, Soria L, Bigot A, Mouly V, Illa I, Gallardo E, Jaiswal JK, Diaz J. Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies. FASEB JOURNAL. 2021; 35(9):e21819. DOI:10.1096/fj.202100588R. PMID:34405910. IF: 5,834
Van den Bergh PYK, van PA, Hadden RDM, Avau B, Vankrunkelsven P, Allen JA, Attarian S, Blomkwist PH, Cornblath DR, Eftimov F, Goedee HS, Harbo T, Kuwabara S, Lewis RA, Lunn MP, Nobile E, Querol L, Rajabally YA, Sommer C, Topaloglu HA. European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2021; 26(3). DOI:10.1111/jns.12455. PMID:34085743. IF: 5,188
Van Rheenen W, van der Spek R, Bakker MK, van J, Hop PJ, Zwamborn R, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, et al. [Rojas R]. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. NATURE GENETICS. 2021; 53(12). DOI:10.1038/s41588-021-00973-1. PMID:34873335. IF: 41,307
Verboon C, Harbo T, Cornblath DR, Hughes R, van PA, Lunn MP, Gorson KC, Barroso F, Kuwabara S, Galassi G, Lehmann HC, Kusunoki S, Reisin RC, Binda D, Cavaletti G, Jacobs BC, Querol LA, Wirtz PW. Intravenous immunoglobulin treatment for mild Guillain-Barre syndrome: an international observational study. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(10). DOI:10.1136/jnnp-2020-325815. PMID:34103340. IF: 13,654
Wieske L, Martin L, Fehmi J, Lleixa C, Koel M, Chatterjee M, van Z, Killestein J, Verhamme C, Querol L, Rinaldi S, Teunissen CE, Eftimov F. Serum Contactin-1 in CIDP A Cross-Sectional Study. Neurology-Neuroimmunology & Neuroinflammation. 2021; 8(5):e1040. DOI:10.1212/NXI.0000000000001040. PMID:34285092. IF: 11,360

NEUROLOGICAL DISEASES, NEUROSCIENCE & MENTAL HEALTH

Neuromuscular Diseases

Main lines of research

Autoimmune neuromuscular diseases

Muscular dystrophy, dysferlinopathy and distal myopathies

Amyotrophic lateral sclerosis

Challenges

Additional information : Neuromuscularbcn

Group coordination

Members

Publications 2023

Publications 2022

Publications 2021

Main lines of research

Autoimmune neuromuscular diseases

Muscular dystrophy, dysferlinopathy and distal myopathies

Amyotrophic lateral sclerosis

Challenges

Additional information : Neuromuscularbcn

Group coordination

Members

Publications 2023

Publications 2022

Publications 2021

Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau