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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).