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01/10/2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Cortese, A, Dohrn, MF, Curro, R, Negri, S, Lassuthova, P, Pisciotta, C, Tozza, S, Al-Ajmi, A, Feng, CY, Tomaselli, PJ, Fernandez-Eulate, G, Haddad, S, Laurà, M, Rossor, AM, Vegezzi, E, Facchini, S, Sleigh, JN, Rebelo, A, Beijer, D, Raposo, J, Saporta, M, Lauerova, B, Pernice, HF, Achenbach, P, Schöne, U, Alon, T, Deschauer, M, Cordts, I, Obermaier, CD, Winter, N, Creigh, PD, Sowden, JE, Rehbein, T, Magri, S, Bertini, A, Saveri, P, Ripellino, P, Huang, JY, Nadaj-Pakleza, A, Ross, A, Holt, JKL, Brennan, KM, Sukenik-Halevy, R, Bizaoui, V, Parman, Y, Battaloglu, E, Cakar, A, Alrohaif, H, Hammans, S, Kumar, KR, Kennerson, ML, Kayserili, H, Amado, DA, Hahn, K, Valentino, P, Cavalcanti, F, Gaetano, C, Taroni, F, Braathen, GJ, Houlden, H, Stojkovic, T, Peric, S, Bolino, A, Previtali, SC, Lee, YC, Basak, AN, Hamed, SA, Rojas-Garcia, R, Claeys, KG, Marques, W, Sevilla, T, Schlotter-Weigel, B, Manganelli, F, Zhang, RX, Herrmann, DN, Scherer, SS, Seeman, P, Pareyson, D, Reilly, MM, Shy, ME, Züchner, S. Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD. BRAIN. 2025; 148(10)DOI:10.1093/brain/awaf021. PMID:39938083. IF:11.700(Q1/1D).
01/10/2025
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Llansó, L, Stevanovski, I, Morís, G, Collet-Vidiella, R, Segarra-Casas, A, González-Quereda, L, Rodríguez-Santiago, B, Gallano, P, Alvarez, R, Vesperinas, A, Blanco, R, San-Millán, B, Navarro, C, Illa, I, Ravenscroft, G, Deveson, IW, Gallardo, E, Olivé, M. Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features. Annals of Clinical and Translational Neurology. 2025; 12(10)DOI:10.1002/acn3.70146. PMID:40693562. IF:3.900(Q1/3D).
01/10/2025
Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies
Gómez-Andrés, D, Costa-Comellas, L, Díaz-Manera, J, Ounap, K, Alvarez-Molinero, M, Urcuyo, G, Savarese, M, Munell, F, Udd, B. Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies. EUROPEAN JOURNAL OF NEUROLOGY. 2025; 32(10)DOI:10.1111/ene.70348. PMID:41025552. IF:3.900(Q1/3D).
01/09/2025
282nd ENMC international workshop-standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands
Iammarino, MA, Alonso-Perez, J, Stojkovic, T, Pegoraro, E, Lowes, L, Diaz-Manera, J. 282nd ENMC international workshop-standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands. NEUROMUSCULAR DISORDERS. 2025; 54DOI:10.1016/j.nmd.2025.106212. PMID:40997622. IF:2.800(Q2/5D).
01/09/2025
Real-World Multinational Survey of Chronic Inflammatory Demyelinating Polyneuropathy: Disease Characteristics and Therapeutic Landscape
Querol, L, Rinaldi, S, Borsi, A, Boggia, GM, de Courcy, J, Taylor, Y, Wright, J, Karmous, W, Noel, W, Gary, C, zu Hörste, GM. Real-World Multinational Survey of Chronic Inflammatory Demyelinating Polyneuropathy: Disease Characteristics and Therapeutic Landscape. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2025; 30(3)DOI:10.1111/jns.70047. PMID:40826893. IF:3.200(Q2/4D).
01/09/2025
Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain
de Frutos, F, Herrador, L, Peiró-Aventin, B, Eiros, R, Freire, JL, Zorio, E, Carbayo, A, Llongueras-Espi, P, Garcia-Alvarez, A, Ripoll-Vera, T, Macias, R, Vilches, S, Ruiz-Bustillo, S, Arana-Achaga, X, Ordás, JG, Piqueras-Flores, J, Ruiz-Cueto, M, Casasnovas, C, Tirón, C, Rojas-Garcia, R, Sevilla, T, Rodriguez-Palomares, JF, González-López, E, Villacorta, E, Garcia-Pavia, P, González-Costello, J. Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain. REVISTA ESPANOLA DE CARDIOLOGIA. 2025; 78(9)DOI:10.1016/j.rec.2024.12.012. PMID:39827963. IF:4.900(Q1/2D).
12/08/2025
Efficacy of Switching Therapy From Alglucosidase Alfa to Avalglucosidase Alfa on Respiratory Function in Participants With Late-Onset Pompe Disease: A Post Hoc Analysis From the COMET Trial
Kishnani, PS, Boentert, M, Wenninger, S, Berger, KI, Msihid, J, O'Callaghan, L, Essadi-Addou, R, Gallego, V, Rawat, NS, Huynh-Ba, O, Diaz-Manera, J. Efficacy of Switching Therapy From Alglucosidase Alfa to Avalglucosidase Alfa on Respiratory Function in Participants With Late-Onset Pompe Disease: A Post Hoc Analysis From the COMET Trial. Jimd Reports. 2025; 66(5)DOI:10.1002/jmd2.70033. PMID:40799512. IF:(Q/D).
01/08/2025
Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL
Kushlaf, H, Díaz-Manera, J, Bratkovic, D, Byrne, BJ, Claeys, KG, Clemens, PR, Dimachkie, MM, Kishnani, PS, Laforêt, P, Roberts, M, Schoser, B, Toscano, A, Castelli, J, Holdbrook, F, Das, SS, Goldman, M, Mozaffar, T. Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL. MUSCLE & NERVE. 2025; 72(2)DOI:10.1002/mus.28420. PMID:40342075. IF:3.100(Q2/4D).
01/08/2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Schiava, M, Parkhurst, Y, Henderson, M, Polvikoski, T, Valtcheva, MV, Nishino, I, Inoue, M, Nishimori, Y, Saito, Y, Stojkovic, T, Villar-Quiles, RN, Romero, NB, Evangelista, T, Malfatti, E, Souvannanorath, S, Pegoraro, E, Riguzzi, P, Monforte, M, Bortolani, S, Torchia, E, Sabatelli, M, Tasca, G, Straub, V, Marini-Bettolo, C, Guglieri, M, Cetin, H, Gelpi, E, Klotz, S, De Bleecker, JL, Alonso-Jimenez, A, Baets, J, De Ridder, W, De Jonghe, P, Claeys, KG, Thal, DR, Bevilacqua, JA, Luo, SS, Zhu, WH, Lin, J, Papadimas, G, Papadopoulos, C, Zamba-Papanicolaou, E, Xirou, S, Pal, E, Rodolico, C, Kostera-Pruszczyk, A, Kierdaszuk, B, Kaminska, A, Muelas, N, Vilchez, JJ, Domínguez-González, C, Hernandez-Lain, A, Alonso-Perez, J, Nedkova-Hristova, V, Aledo, C, Oldfors, A, Badrising, UA, Kushlaf, H, Lloyd, TE, Ikenaga, C, Alfano, LN, Quinn, CC, Walk, D, Vorgerd, M, Weihl, C, Olivé, M, Diaz-Manera, J, VCP Int Study Grp. Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy. Neurology-Genetics. 2025; 11(4)DOI:10.1212/NXG.0000000000200265. PMID:40678441. IF:3.700(Q1/3D).
01/07/2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Segarra-Casas, A, Domínguez-González, C, Natera-de Benito, D, Kapetanovic, S, Hernández-Laín, A, Estévez-Arias, B, Llansó, L, Ortez, C, Jou, C, Martí-Carrera, I, López-Márquez, A, Rodríguez, MJ, González-Mera, L, Nedkova, V, Fernández-Torrón, R, Rodríguez-Santiago, B, Jimenez-Mallebrera, C, Juntas-Morales, R, López-de Munain, A, Surrallés, J, Nascimento, A, Gallardo, E, Olivé, M, Gallano, P, González-Quereda, L. Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases. Annals of Clinical and Translational Neurology. 2025; 12(7)DOI:10.1002/acn3.70078. PMID:40413734. IF:3.900(Q1/3D).
19/06/2025
Caregiving burden among caregivers of people with myasthenia gravis
Dewilde, S, Tollenaar, NH, Boulanger, P, Archer, A, Pardo, R, Cortés-Vicente, E, Mantegazza, R, Vanoli, F, Lehnerer, S, Pawlitzki, M, Heinrich, M, De Ruyck, F, Phillips, G, Paci, S. Caregiving burden among caregivers of people with myasthenia gravis. Orphanet Journal of Rare Diseases. 2025; 20(1)DOI:10.1186/s13023-025-03842-w. PMID:40537818. IF:3.500(Q2/4D).
01/06/2025
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum
Alonso-Pérez, J, Barrachina-Esteve, O, Gonzaález-Quereda, L, Viguera-Martinez, ML, Lujaán-Torné, M, Guitart-Feliubadaló, M, Martínez, JM, Carbayo, A, Gallano, P, Díaz-Manera, J, Olivé, M, Rojas-Garcia, R. Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum. NEUROLOGIA. 2025; 40(5)DOI:10.1016/j.nrl.2023.03.002. PMID:40523712. IF:3.100(Q2/4D).
01/06/2025
Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI
Verdu-Diaz, J, Bolano-Díaz, C, Gonzalez-Chamorro, A, Fitzsimmons, S, Warman-Chardon, J, Kocak, GS, Mucida-Alvim, D, Smith, IC, Vissing, J, Poulsen, NS, Luo, SS, Domínguez-González, C, Bermejo-Guerrero, L, Gomez-Andres, D, Sotoca, J, Pichiecchio, A, Nicolosi, S, Monforte, M, Brogna, C, Mercuri, E, Bevilacqua, JA, Díaz-Jara, J, Pizarro-Galleguillos, B, Krkoska, P, Alonso-Pérez, J, Olivé, M, Niks, EH, Kan, HE, Lilleker, J, Roberts, M, Buchignani, B, Shin, J, Esselin, F, Le Bars, E, Childs, AM, Malfatti, E, Sarkozy, A, Perry, L, Sudhakar, S, Zanoteli, E, Di Pace, FT, Matthews, E, Attarian, S, Bendahan, D, Garibaldi, M, Fionda, L, Alonso-Jiménez, A, Carlier, R, Okhovat, AA, Nafissi, S, Nalini, A, Vengalil, S, Hollingsworth, K, Marini-Bettolo, C, Straub, V, Tasca, G, Bacardit, J, Díaz-Manera, J. Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI. Journal of Cachexia Sarcopenia and Muscle. 2025; 16(3)DOI:10.1002/jcsm.13815. PMID:40275674. IF:9.100(Q1/1D).
01/06/2025
278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The Netherlands
Sacconi, S, Vanoli, F, Stascheit, F, Cortés-Vicente, E, Mantegazza, R, Meisel, A. 278th ENMC International Workshop: European standards for harmonization of myasthenia gravis registries and emerging digital solutions. 20th-21st September 2024, Hoofddorp, The Netherlands. NEUROMUSCULAR DISORDERS. 2025; 51DOI:10.1016/j.nmd.2025.105368. PMID:40388880. IF:2.800(Q2/5D).
01/06/2025
ADAPT NXT: Fixed Cycles or Every-Other-Week IV Efgartigimod in Generalized Myasthenia Gravis
Habib, AA, Claeys, KG, Bril, V, Hussain, Y, Gwathmey, K, Sahagian, G, Cortés-Vicente, E, Brauer, E, Gelinas, D, Sumbul, A, Jimenez, RH, Hristova, D, Masschaele, D, Mantegazza, R, Meisel, A, Attarian, S. ADAPT NXT: Fixed Cycles or Every-Other-Week IV Efgartigimod in Generalized Myasthenia Gravis. Annals of Clinical and Translational Neurology. 2025; 12(6)DOI:10.1002/acn3.70051. PMID:40223516. IF:3.900(Q1/3D).
01/06/2025
Protective ileostomy creation after anterior resection of the rectum (PICARR): a decision-making exploring international survey
Balla, A, Saraceno, F, Rullo, M, Morales-Conde, S, Soler, EMT, Di Saverio, S, Guerrieri, M, Lepiane, P, Di Lorenzo, N, Adamina, M, Alarcon, I, Arezzo, A, Rodriguez, JB, Boni, L, Biondo, S, Carrano, FM, Chand, M, Jenkins, JT, Davies, J, Rivilla, SD, Delrio, P, Elmore, U, Espin-Basany, E, Fichera, A, Lorente, BF, Francis, N, Ruiz, MG, Hahnloser, D, Licardie, E, Martinez, C, Ortenzi, M, Panis, Y, Idoate, CP, Paganini, AM, Pera, M, Perinotti, R, Popowich, DA, Rockall, T, Rosati, R, Sartori, A, Scoglio, D, Shalaby, M, Fernandez, VS, Smart, NJ, Spinelli, A, Sylla, P, Tanis, PJ, Hernandez, JV, Wexner, SD, Sileri, P, PICARR Collaborative Grp. Protective ileostomy creation after anterior resection of the rectum (PICARR): a decision-making exploring international survey. Updates in Surgery. 2025; 77(3)DOI:10.1007/s13304-025-02111-6. PMID:40121358. IF:2.200(Q2/4D).
01/06/2025
SWITCHING FROM REFERENCE TOCILIZUMAB TO BIOSIMILAR IN GIANT CELL ARTERITIS: EFFECTIVENESS AND SAFETY
López-Gutiérrez, F, Loricera, J, Molina-Collada, J, Gonáalez, JCN, Sánchez-Lucas, M, Moya, P, Labrador-Sánchez, E, Ferraz-Amaro, I, Blanco, R. SWITCHING FROM REFERENCE TOCILIZUMAB TO BIOSIMILAR IN GIANT CELL ARTERITIS: EFFECTIVENESS AND SAFETY. ANNALS OF THE RHEUMATIC DISEASES. 2025; 84DOI:10.1136/annrheumdis-2025-eular.B3604. PMID:. IF:20.600(Q1/1D).
01/06/2025
Ablation of LAT2 Transporter Causes Intramuscular Glutamine Accumulation and Inhibition of Fasting-Induced Proteolysis
Espino-Guarch, M, Huang, SSY, Vilches, C, Prat, E, El Nahas, R, Missous, G, Bodoy, S, Sathappan, A, Al-Aghbar, MA, Mayayo, C, Olivé, M, Busquets-Rius, S, Sebastián, D, Zorzano, A, Palacin, M, van Panhuys, N, Nunes, V. Ablation of LAT2 Transporter Causes Intramuscular Glutamine Accumulation and Inhibition of Fasting-Induced Proteolysis. Journal of Cachexia Sarcopenia and Muscle. 2025; 16(3)DOI:10.1002/jcsm.13847. PMID:40546137. IF:9.100(Q1/1D).
18/04/2025
Assessing therapeutic decisions in generalized myasthenia gravis: Study protocol
Gutierrez-Gutierrez, G, Gomez-Ballesteros, R, Sotoca, J, Ares, A, Villaverde, R, Reyes, V, Armangue, T, Salas, E, Diaz-Abos, P, Rebollo, P, Sarmiento, M, Escobar, I, Maurino, J, Querol, L. Assessing therapeutic decisions in generalized myasthenia gravis: Study protocol. PLoS One. 2025; 20(4)DOI:10.1371/journal.pone.0322168. PMID:40261907. IF:2.600(Q2/4D).
17/03/2025
The Role of Integrin ß1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy
Valls, A, Ruiz-Roldán, C, Immanuel, J, Alonso-Martín, S, Gallardo, E, Fernández-Torrón, R, Bonilla, M, Lersundi, A, Hernández-Laín, A, Domínguez-González, C, Vílchez, JJ, Iruzubieta, P, de Munain, AL, Sáenz, A. The Role of Integrin ß1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy. Cells. 2025; 14(6)DOI:10.3390/cells14060446. PMID:40136695. IF:5.200(Q2/3D).
11/03/2025
Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data
Slioui, A, Tammam, G, Vanoli, F, Della Marina, A, Vohanka, S, Gilhus, NE, Moroni, I, Leite, MI, Piehl, F, Antozzi, C, Pini, J, Stascheit, F, Attarian, S, Santos, E, Verschuuren, J, Canonge, L, Garcia, J, Perriard, C, Cortés-Vicente, E, Mantegazza, R, Meisel, A, Sacconi, S. Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data. Orphanet Journal of Rare Diseases. 2025; 20(1)DOI:10.1186/s13023-024-03520-3. PMID:40069719. IF:3.500(Q2/4D).
01/03/2025
Long-Term Follow Up in Anti-Contactin-1 Autoimmune Nodopathy
Caballero-avila, M, Martin-Aguilar, L, Pascual-Goni, E, Michael, MR, Koel-Simmelink, MJA, Hoeftberger, R, Wanschitz, J, Alonso-Jimenez, A, Armangue, T, Baars, AE, Carbayo, A, Castek, B, Collet-Vidiella, R, De Winter, J, del Real, MA, Delmont, E, Diamanti, L, Doneddu, PE, Hiew, FL, Gallardo, E, Gonzalez, A, Grinzinger, S, Horga, A, Iglseder, S, Jacobs, BC, Jauregui, A, Killestein, J, Pozza, EL, Martinez-Martinez, L, Nobile-Orazio, E, Ortiz, N, Perez-Perez, H, Poppert, KN, Ripellino, P, Roche, JC, de Rivera, FJR, Rostasy, K, Sparasci, D, Tejada-Illa, C, Teunissen, CCE, Vegezzi, E, Xucla-Ferrarons, T, Zach, F, Wieske, L, Eftimov, F, Lleixa, C, Querol, L. Long-Term Follow Up in Anti-Contactin-1 Autoimmune Nodopathy. ANNALS OF NEUROLOGY. 2025; 97(3)DOI:10.1002/ana.27142. PMID:39601182. IF:7.700(Q1/1D).
01/01/2025
The Discovery of Autoimmune Nodopathies and the Impact of IgG4 Antibodies in Autoimmune Neurology
Querol, L, Dalakas, MC. The Discovery of Autoimmune Nodopathies and the Impact of IgG4 Antibodies in Autoimmune Neurology. Neurology-Neuroimmunology & Neuroinflammation. 2025; 12(1)DOI:10.1212/NXI.0000000000200365. PMID:39671536. IF:7.500(Q1/1D).
01/01/2025
Persistent symptoms, exacerbations and drug side effects despite treatment in myasthenia gravis
Reyes-Leiva, D, Carbayo, A, Vesperinas-Castro, A, Rojas-Garcia, R, Querol, L, Turon-Sans, J, Pla-Junca, F, Olivé, M, Gallardo, E, Pujades-Rodriguez, M, Cortés-Vicente, E. Persistent symptoms, exacerbations and drug side effects despite treatment in myasthenia gravis. EUROPEAN JOURNAL OF NEUROLOGY. 2025; 32(1)DOI:10.1111/ene.16463. PMID:39624955. IF:3.900(Q1/3D).
01/01/2025
Practitioner's perception of myasthenia gravis management recommendations in clinical practice: a cross-sectional survey study
Cortes-Vicente, E, Guerrero-Sola, A, Caballero-Martinez, F, Campos-Lucas, FJ, Gómez-Salgado, J, Monge-Martin, D, Alvarez-Velasco, R. Practitioner's perception of myasthenia gravis management recommendations in clinical practice: a cross-sectional survey study. Therapeutic Advances in Chronic Disease. 2025; 16DOI:10.1177/20406223251368063. PMID:40949050. IF:2.800(Q2/5D).
19/12/2024
Guillain-Barre syndrome
Leonhard, SE, Papri, N, Querol, L, Rinaldi, S, Shahrizaila, N, Jacobs, BC. Guillain-Barre syndrome. Nature Reviews Disease Primers. 2024; 10(1)DOI:10.1038/s41572-024-00580-4. PMID:39702645. IF:60.600(Q1/1D).
28/10/2024
Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency
Seminario, FD, Aventin, BP, Eiros, R, Freire, JL, Sevilla, T, Carbayo, A, Llongueras, P, Garcia-Alvarez, A, Ripoll-Vera, T, Macias, R, Vilches, S, Ruiz-Bustillo, S, Achaga, XA, Ordas, JG, Gonzalez-Costello, J. Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency. EUROPEAN HEART JOURNAL. 2024; 45DOI:10.1093/eurheartj/ehae666.2073. PMID:. IF:35.600(Q1/1D).
01/10/2024
Natural history of spinal muscular atrophy patients with 3 and 4 copies of SMN2 gene - data from the national Spanish registry (CUIDAME)
Gawinska, KA, García, MF, Osorio, AN, Paradas, C, Sotoca, J, Povedano, M, Moreno, A, Henao, M, Gil, C, Rojas, R, Caravaca, MG, Grimalt, M, Torron, RF, Jericó, I, Campos, OG, de Laguna, LTB, Hervás, D, Tizzano, E, Costa, JV. Natural history of spinal muscular atrophy patients with 3 and 4 copies of SMN2 gene - data from the national Spanish registry (CUIDAME). NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.461. PMID:. IF:2.800(Q2/5D).
01/10/2024
SnRNAseq analysis of muscle samples of patients with SMA reveals novel pathogenic pathways and open avenues for new therapeutic strategies
Collins, C, Gokul-Nath, R, Katsikis, P, Fernández-Simón, E, Villalobos, E, Monceau, A, Reza, M, Mehra, P, Laidler, Z, Clark, J, Rojas-García, R, Tasca, G, Marini-Bettolo, C, Diaz-Manera, J. SnRNAseq analysis of muscle samples of patients with SMA reveals novel pathogenic pathways and open avenues for new therapeutic strategies. NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.611. PMID:. IF:2.800(Q2/5D).
01/10/2024
The International Clinical Outcome Study for Dysferlinopathy II: validation of motor outcome measures in a new patient cohort
Hilsden, H, James, M, Dressman, HG, Rufibach, L, Day, J, Mendell, J, Torron, RF, Harms, M, Pestronk, A, Vissing, J, Desai, U, Yoshimura, M, Shin, J, Mozaffar, T, Stojkovic, T, Pegoraro, E, Rivas, JB, Olive, M, Paradas, C, Straub, V. The International Clinical Outcome Study for Dysferlinopathy II: validation of motor outcome measures in a new patient cohort. NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.276. PMID:. IF:2.800(Q2/5D).
01/10/2024
Spanish Pompe Registry: overview based on the 130 patients included
Marín, RM, Leiva, DR, Osorio, AN, Muelas, N, Domínguez, C, Marcos, IR, Paradas, C, Olivé, M, Matas, A, Caravaca, MG, Romero, MB, Mendoza, M, de León, J, Gutiérrez, A, Rabasa, M, Segovia, S, Manera, JD. Spanish Pompe Registry: overview based on the 130 patients included. NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.732. PMID:. IF:2.800(Q2/5D).
01/10/2024
RNA sequencing as a diagnostic tool in a cohort of 54 undiagnosed patients with neuromuscular diseases
Segarra-Casas, A, Domínguez-González, C, Natera-De-Benito, D, Ortez, C, Nascimiento, A, Hernández-Laín, A, Kapetanovic, S, Rodríguez, M, González-Mera, L, Nedkova, V, Fernández-Torrón, R, López-de Munain, A, Jimenez-Mallebrera, C, Rodríguez-Santiago, B, Gallardo, E, Olivé, M, Gallano, P, González-Quereda, L. RNA sequencing as a diagnostic tool in a cohort of 54 undiagnosed patients with neuromuscular diseases. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).
01/09/2024
Attitudes towards serum neurofilament light chain testing: The role of evidence-based innovation among neurologists
Monreal, E, Medrano, N, Rodriguez, ABC, Dominguez, JMG, Querol, L, Lallana, JM, Landete, L, Garcia, ME, Morales, EA, Meca, V, Yelamos, SM, Maurino, J, Gómez, R, Guimerans, LMV. Attitudes towards serum neurofilament light chain testing: The role of evidence-based innovation among neurologists. Multiple Sclerosis Journal. 2024; 30(3)DOI:. PMID:. IF:5.000(Q1/2D).
01/09/2024
Empathy in multiple sclerosis care: Differences between female and male neurologists
Rodriguez, ABC, Medrano, N, Guimerans, LMV, Querol, L, Lallana, JM, Yelamos, SM, Landete, L, Dominguez, JMG, Gómez, R, Meca, V, Morales, EA, Maurino, J, Garcia, ME, Mora, P, Monreal, E, Saposnik, G. Empathy in multiple sclerosis care: Differences between female and male neurologists. Multiple Sclerosis Journal. 2024; 30(3)DOI:. PMID:. IF:5.000(Q1/2D).
16/08/2024
Efficacy, safety and tolerability of rozanolixizumab in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a randomised, subject-blind, investigator-blind, placebo-controlled, phase 2a trial and open-label extension study.
Querol L, De Sèze J, Dysgaard T, Levine T, Rao TH, Rivner M, Hartung HP, Kiessling P, Shimizu S, Marmol D, Bozorg A, Colson AO, Massow U, Eftimov F, CIDP01 Study Investigators. Efficacy, safety and tolerability of rozanolixizumab in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a randomised, subject-blind, investigator-blind, placebo-controlled, phase 2a trial and open-label extension study.. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2024; 95(9)DOI:10.1136/jnnp-2023-333112. PMID:38729747. IF:(Q/D).
01/06/2024
Novel patient-derived 2D and 3D muscle models in inclusion body myositis
Andújar-Sánchez, F, Cantó-Santos, J, Fernández-Garibay, X, Valls-Roca, L, Tobías, E, Guitart-Mampel, M, García-García, FJ, Laudo, B, Vilaseca-Capel, A, Padrosa, J, Moreno-Lozano, PJ, Grau-Junyent, JM, Matas, A, Gallardo, E, Fernández-Costa, J, Ramón-Azcón, J, Milisenda, JC, Garrabou, G. Novel patient-derived 2D and 3D muscle models in inclusion body myositis. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION. 2024; 54DOI:. PMID:. IF:3.600(Q1/2D).
08/05/2022
Reliability, validity, and diagnostic accuracy of Parkinson's Disease-Cognitive Rating Scale in Iranian patients with idiopathic Parkinson's disease
Asl, AM, Mehdizadeh, M, Kulisevsky, J, Sabet, A, Sharabiani, PTA, Mehdizadeh, H, Ashayeri, H, Taghizadeh, G. Reliability, validity, and diagnostic accuracy of Parkinson's Disease-Cognitive Rating Scale in Iranian patients with idiopathic Parkinson's disease. DISABILITY AND REHABILITATION. 2022; 44(10)DOI:10.1080/09638288.2020.1813337. PMID:32924645. IF:2.200(Q2/4D).
01/04/2022
Tipping the scales: how clinical assessment shapes the neural correlates of Parkinson's disease mild cognitive impairment
Aracil-Bolanos, I, Sampedro, F, Marin-Lahoz, J, Horta-Barba, A, Martinez-Horta, S, Gonzalez-de-Echavarri, JM, Perez-Perez, J, Bejr-Kasem, H, Pascual-Sedano, B, Boti, M, Campolongo, A, Izquierdo, C, Gironell, A, Gomez-Anson, B, Kulisevsky, J, Pagonabarraga, J. Tipping the scales: how clinical assessment shapes the neural correlates of Parkinson's disease mild cognitive impairment. Brain Imaging and Behavior. 2022; 16(2)DOI:10.1007/s11682-021-00543-3. PMID:34553331. IF:3.200(Q2/5D).
01/02/2022
Structure and Dynamics of Large-Scale Cognitive Networks in Huntington's Disease
Aracil-Bolanos, I, Martinez-Horta, S, Gonzalez-de-Echavarri, JM, Sampedro, F, Perez-Perez, J, Horta, A, Campolongo, A, Izquierdo, C, Gomez-Anson, B, Pagonabarraga, J, Kulisevsky, J. Structure and Dynamics of Large-Scale Cognitive Networks in Huntington's Disease. MOVEMENT DISORDERS. 2022; 37(2)DOI:10.1002/mds.28839. PMID:34752656. IF:8.600(Q1/1D).
01/01/2022
The Parkinson's Disease-Cognitive Rating Scale: Greek Normative Data, Clinical Utility and Cultural Considerations
Aretouli, E, Chondrogiorgi, M, Dede, O, Koutsonida, M, Lafi, C, Konstantinopoulou, E, Kulisevsky, J, Kosmidis, MH, Konitsiotis, S. The Parkinson's Disease-Cognitive Rating Scale: Greek Normative Data, Clinical Utility and Cultural Considerations. JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY. 2022; 35(5)DOI:10.1177/08919887211049110. PMID:34663111. IF:2.600(Q3/7D).