Cercar
01/07/2023
The autoimmune vulnerability of the node of Ranvier
Querol, L, Delmont, E, Lleixa, C. The autoimmune vulnerability of the node of Ranvier. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2023; 28DOI:10.1111/jns.12570. PMID:37272737. IF:4.000(Q1/2D).
01/06/2023
An innovative phase 2 proof-of-concept trial design to evaluate SAR445088, a monoclonal antibody targeting complement C1s in chronic inflammatory demyelinating polyneuropathy
Querol, L, Lewis, RA, Hartung, HP, Van Doorn, PA, Wallstroem, E, Luo, XD, Alonso-Alonso, M, Atassi, N, Hughes, RAC. 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:4.000(Q1/2D).
03/04/2023
Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain
de Frutos F., Ochoa J.P., Gómez-González C., Reyes-Leiva D., Aróstegui J.I., Casasnovas C., Barriales-Villa R., Sevilla T., Gonzalez-Lopez E., Ramil E., Galan L., González-Costello J., García-Álvarez A., Rojas-Garcia R., Espinosa M.A., Garcia-Pavia 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:5.200(Q1/1D).
01/04/2023
Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease
Vazquez-Costa, JF, Borrego-Hernandez, D, Paradas, C, Gomez-Caravaca, MT, Rojas-Garcia, R, Varona, L, Povedano, M, Garcia-Sobrino, T, Pascual, IJ, Gutierrez, A, Riancho, J, Turon-Sans, J, Assialioui, A, Perez-Tur, J, Sevilla, T, Perez, JE, Garcia-Redondo, 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:4.500(Q1/2D).
01/04/2023
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness
Segarra-Casas, A, Collet, R, Gonzalez-Quereda, L, Vesperinas, A, Caballero-Avila, M, Carbayo, A, Diaz-Manera, 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:2.700(Q2/4D).
14/03/2023
Effect of monovalency on anti-contactin-1 IgG4
Taieb G., Jentzer A., Vegezzi E., Lleixà C., Illa I., Querol L., Devaux J.J.. Effect of monovalency on anti-contactin-1 IgG4. Frontiers in Immunology. 2023; 14DOI:10.3389/fimmu.2023.1021513. PMID:36999029. IF:5.700(Q1/3D).
13/03/2023
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort
de Bruyn, A, Montagnese, F, Holm-Yildiz, S, Poulsen, NS, Stojkovic, T, Behin, A, Palmio, J, Jokela, M, De Bleecker, JL, de Visser, M, van der Kooi, AJ, ten Dam, L, Gonzalez, CD, Maggi, L, Gallone, A, Kostera-Pruszczyk, A, Macias, A, Lusakowska, A, Nedkova, V, Olive, M, Alvarez-Velasco, R, Wanschitz, J, Paradas, C, Mavillard, F, Querin, G, Fernandez-Eulate, 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:11.900(Q1/1D).
09/03/2023
Contactin-1 links autoimmune neuropathy and membranous glomerulonephritis
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, ISD, Ashman, N, Salama, AD, Rinaldi, S. Contactin-1 links autoimmune neuropathy and membranous glomerulonephritis. PLoS One. 2023; 18(3)DOI:10.1371/journal.pone.0281156. PMID:36893151. IF:2.900(Q1/3D).
02/03/2023
Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis
Lleixà C., Caballero-Ávila M., Pascual-Goñi E., Martín-Aguilar L., Vidal N., Tejada C., Valdés-Hevia E., Zárate E., Vesperinas A., Collet R., Franco-Leyva T., Martínez-Martínez L., Moga E., Cortés-Vicente E., Rojas-García R., Gómez-Anson B., Gil A., González-Mingot C., Brieva L., Martínez-Yélamos S., Querol L.. Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis. Brain Communications. 2023; 5(2)DOI:10.1093/braincomms/fcad109. PMID:37091585. IF:(Q/D).
01/03/2023
Leptospirosis-induced acute acquired inflammatory neuropathy
Xucla-Ferrarons, T, Turon-Sans, J, Caballero-Avila, M, Cortes-Vicente, E, Rojas-Garcia, R. Leptospirosis-induced acute acquired inflammatory neuropathy. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2023; 28(1)DOI:10.1111/jns.12525. PMID:36567442. IF:4.000(Q1/2D).
01/01/2023
Muscle MRI in immune-mediated necrotizing myopathy (IMNM): implications for clinical management and treatment strategies
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-Manera, 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:4.800(Q1/2D).
01/01/2023
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy (vol 143, pg 2696, 2020)
Alonso-Perez, J, Gonzalez-Quereda, L, Bello, L, Guglieri, M, Straub, V, Gallano, P, Semplicini, C, Pegoraro, E, Zangaro, V, Nascimento, A, Ortez, C, Comi, GP, ten Dam, L, De Visser, M, van der Kooi, AJ, Garrido, C, Santos, M, Schara, U, Gangfuss, A, Lokken, N, Storgaard, JH, Vissing, J, Schoser, B, Dekomien, G, Udd, B, Palmio, J, D'Amico, A, Politano, L, Nigro, V, Bruno, C, Panicucci, C, Sarkozy, A, Abdel-Mannan, O, Alonso-Jimenez, A, Claeys, KG, Gomez-Andres, D, Munell, F, Costa-Comellas, L, Haberlova, J, Rohlenova, M, Elke, D, De Bleecker, JL, Dominguez-Gonzalez, C, Tasca, G, Weiss, C, Deconinck, N, Fernandez-Torron, R, de Munain, AL, Camacho-Salas, A, Melegh, B, Hadzsiev, K, Leonardis, L, Koritnik, B, Garibaldi, M, de Leon-Hernandez, JC, Malfatti, E, Fraga-Bau, A, Richard, I, Illa, I, Diaz-Manera, J. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy (vol 143, pg 2696, 2020). BRAIN. 2023; 146(1)DOI:10.1093/brain/awac371. PMID:. IF:11.900(Q1/1D).
01/01/2023
Profiling TREM2 expression in amyotrophic lateral sclerosis
Jericó I., Vicuña-Urriza J., Blanco-Luquin I., Macias M., Martinez-Merino L., Roldán M., Rojas-Garcia R., Pagola-Lorz 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:8.800(Q1/1D).
01/01/2023
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
Moore U., Fernández-Simón E., Schiava M., Cox D., Gordish-Dressman H., James M.K., Mayhew A., Wilson I., Guglieri M., Rufibach L., Blamire A., Carlier P.G., Mori-Yoshimura M., Day J.W., Jones K.J., Bharucha-Goebel D.X., Salort-Campana E., Pestronk A., Walter M.C., Paradas C., Stojkovic T., Bravver E., Pegoraro E., Mendell J.R., Bushby K., Diaz-Manera J., Straub V.. 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:2.700(Q2/4D).
01/01/2023
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study
Vázquez-Costa J.F., Branas-Pampillón M., Medina-Cantillo J., Povedano M., Pitarch-Castellano I., López-Lobato M., Fernández-Ramos J.A., Lafuente-Hidalgo M., Rojas-García R., Caballero-Caballero J.M., Málaga I., Eirís-Puñal J., De Lemus M., Cattinari M.G., Cabello-Moruno R., Díaz-Abós P., Sánchez-Menéndez V., Rebollo P., Maurino J., Madruga-Garrido 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:4.000(Q1/2D).
01/01/2023
Guillain-Barré Syndrome Following Zika Virus Infection Is Associated With a Diverse Spectrum of Peripheral Nerve Reactive Antibodies
Davies A.J., Lleixà C., Siles A.M., Gourlay D.S., Berridge G., Dejnirattisai W., Ramírez-Santana C., Anaya J.-M., Falconar A.K., Romero-Vivas C.M., Osorio L., Parra B., Screaton G.R., Mongkolsapaya J., Fischer R., Pardo C.A., Halstead S.K., Willison H.J., 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)DOI:10.1212/NXI.0000000000200047. PMID:36411078. IF:8.300(Q1/1D).
01/01/2023
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey
El-Hassar L., Amara A., Sanson B., Lacatus O., Belhouchet, AA, Kroneman M., Claeys K., Plancon, JP, Rodolico C., Primiano G., Trojsi F., Filosto M., Mongini T.E., Bortolani S., Monforte M., Carraro E., Maggi L., Ricci F., Silani V., Orsucci D., Créange A., Péréon Y., Stojkovic T., van der Beek, NAME, Toscano A., Pareyson D., Attarian S., Van den Bergh, PYK, Remiche G., Hoeijmakers, JGJ, Badrising U., Voermans N.C., Kaindl A.M., Schara-Schmidt U., Schoser B., Gazzerro E., Haberlová J., Vohanka, S, Pál E., Molnar M.J., Leonardis L., Tournev I.L., Osorio A.N., Olivé M., Muelas N., Alonso-Perez 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:3.200(Q2/3D).
01/01/2023
mRNA COVID-19 Vaccination Does Not Exacerbate Symptoms or Trigger Neural Antibody Responses in Multiple Sclerosis
Blanco Y., Escudero D., Lleixà C., Llufriu S., Egri N., García R.R., Alba M., Aguilar E., Artola M., Aldea Novo M., Alvarez S., Caballero E., Cabrera-Maqueda J.M., Fonseca E., Guasp M., Hernando A., Martinez-Hernandez E., Olivé-Cirera G., Lopez-Contreras J., Martín-Aguilar L., Martinez-Martinez L., Rombauts A., Rodés M., Sabater L., Sepulveda M., Solana E., Tejada-Illa C., Vidal-Fernández N., Vilella A., Fortuny C., Armangué T., Dalmau J.O., 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:(Q/D).
01/01/2023
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations
Suárez-Calvet X., Fernández-Simón E., Natera D., Jou C., Pinol-Jurado P., Villalobos E., Ortez C., Monceau A., Schiava M., Codina A., Verdu-Díaz J., Clark J., Laidler Z., Mehra P., Gokul-Nath R., Alonso-Perez J., Marini-Bettolo C., Tasca G., Straub V., Guglieri M., Nascimento A., Diaz-Manera J.. Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations. Cell Death & Disease. 2023; 14(9)DOI:10.1038/s41419-023-06103-5. PMID:37673877. IF:8.100(Q1/2D).
01/01/2023
Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease
Mackenbach M.J., Willemse E.A.J., Van Den Dorpel J.J.A., Van Der Beek N.A.M.E., Díaz-Manera J., Rizopoulos D., Teunissen C., Van Der Ploeg A.T., Van Den Hout J.M.P.. Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease. NEUROLOGY. 2023; 101(6)DOI:10.1212/WNL.0000000000207482. PMID:37336766. IF:8.400(Q1/1D).
01/01/2023
CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome
Al-Hakem H., Doets A.Y., Stino A.M., Zivkovic S.A., Andersen H., Willison H.J., Cornblath D.R., Gorson K.C., Islam Z., Mohammad Q.D., Sindrup Sø.H., Kusunoki S., Davidson A., Casasnovas C., Bateman K., Miller J.A.L., Van Den Berg B., Verboon C., Roodbol J., Leonhard S.E., Arends S., Luijten L.W.G., Benedetti L., Kuwabara S., Van Den Bergh P., Monges S., Marfia G.A., Shahrizaila N., Galassi G., Pereon Y., Burmann J., Kuitwaard K., Kleyweg R.P., Marchesoni C., Tous M.J.S., Querol L., Martin-Aguilar L., Wang Y., Nobile-Orazio E., Rinaldi S., Schenone A., Pardo J., Vermeij F.H., Waheed W., Lehmann H.C., Granit V., Stein B., Cavaletti G., Gutierrez-Gutierrez G., Barroso F.A., Visser L.H., Katzberg H.D., Dardiotis E., Attarian S., Van Der Kooi A.J., Eftimov F., Wirtz P.W., Samijn J.P.A., Jacobus Gilhuis H., Hadden R.D.M., Holt J.K.L., Sheikh K.A., Kolb N., Karafiath S., Vytopil M., Antonini G., Feasby T.E., Faber C., Kramers H., Busby M., Roberts R.C., Silvestri N.J., Fazio R., Van Dijk G.W., Garssen M.P.J., Verschuuren J., Harbo T., Jacobs B.C.. CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome. NEUROLOGY. 2023; 100(23)DOI:10.1212/WNL.0000000000207282. PMID:37076309. IF:8.400(Q1/1D).
01/01/2023
Clinical and pathophysiological implications of autoantibodies in autoimmune neuropathies
Collet R., Caballero-Ávila 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:2.800(Q2/4D).
01/01/2023
Rituximab treatment in myasthenia gravis
Vesperinas-Castro A., Cortés-Vicente E.. Rituximab treatment in myasthenia gravis. Frontiers in Neurology. 2023; 14DOI:10.3389/fneur.2023.1275533. PMID:37849836. IF:2.700(Q2/4D).
01/01/2023
Colorimetric fusion of attenuation and birefringence in OCT signatures: a screening tool for evaluating muscular degradation in alpha-sarcoglican deficit murine models
Mieites V., Pardo A., Gutiérrez-Gutiérrez J.A., Suárez-Calvet X., López-Higuera J.M., Díaz-Manera J., Conde O.M.. Colorimetric fusion of attenuation and birefringence in OCT signatures: a screening tool for evaluating muscular degradation in alpha-sarcoglican deficit murine models. Proceedings of SPIE. 2023; 12632DOI:10.1117/12.2670555. PMID:. IF:(Q/D).
01/01/2023
Wide-field optical properties estimation of whole limbs in muscle dystrophy murine models via SFDI: A case study
Mieites V., Gutíerrez-Gutíerrez J.A., Pardo A., Súarez-Calvet X., Lopez-Higuera J.M., Diaz-Manera J., Conde O.M.. Wide-field optical properties estimation of whole limbs in muscle dystrophy murine models via SFDI: A case study. Proceedings of SPIE. 2023; 12627DOI:10.1117/12.2670573. PMID:. IF:(Q/D).
05/12/2022
Survey on the management of Pompe disease in routine clinical practice in Spain
Dominguez-Gonzalez, C, Diaz-Marin, C, Juntas-Morales, R, Nascimiento-Osorio, A, Rivera-Gallego, A, Diaz-Manera, J. Survey on the management of Pompe disease in routine clinical practice in Spain. Orphanet Journal of Rare Diseases. 2022; 17(1)DOI:10.1186/s13023-022-02574-5. PMID:36471448. IF:3.700(Q2/4D).
01/10/2022
Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice
Alonso-Perez, J, Carrasco-Rozas, A, Borrell-Pages, M, Fernandez-Simon, E, Pinol-Jurado, P, Badimon, L, Wollin, L, Lleixa, C, Gallardo, E, Olive, M, Diaz-Manera, J, Suarez-Calvet, X. Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice. Biomedicines. 2022; 10(10)DOI:10.3390/biomedicines10102629. PMID:36289891. IF:4.700(Q1/3D).
01/10/2022
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene
Martín-Jiménez P., Fuenmayor-Fernández de la Hoz C.P.D., Hernández-Laín A., Arteche-López A., Quesada-Espinosa J.F., Voth A.H., Vesperinas A., Olivé M., Domínguez-González 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:3.400(Q2/5D).
01/08/2022
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients
Carrasco-Rozas, A, Fernandez-Simon, E, Suarez-Calvet, X, Pinol-Jurado, P, Alonso-Perez, J, de Luna, N, Schoser, B, Meinke, P, Dominguez-Gonzalez, C, Hernandez-Lain, A, Paradas, C, Rivas, E, Illa, I, Olive, M, Gallardo, E, Diaz-Manera, 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:6.000(Q1/2D).
01/01/2022
Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia
Caballero-Ávila M., Álvarez-Velasco R., Moga E., Rojas-Garcia R., Turon-Sans J., Querol L., Olivé M., Reyes-Leiva D., Illa I., Gallardo E., Cortés-Vicente 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:2.800(Q3/6D).
01/01/2022
Azathioprine therapy induces selective NK cell depletion and IFN-? deficiency predisposing to herpesvirus reactivation
Ingelfinger F., Sparano C., Bamert D., Reyes-Leiva D., Sethi A., Rindlisbacher L., Zwicky P., Kreutmair S., Widmer C.C., Mundt S., Cortés-Vicente 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:14.200(Q1/1D).
01/01/2022
Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management
Bolano-Diaz, C, Diaz-Manera, 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; 18DOI:10.2147/TCRM.S334232. PMID:36536827. IF:2.800(Q3/6D).
01/01/2022
The Role of the Complement System in Chronic Inflammatory Demyelinating Polyneuropathy: Implications for Complement-Targeted Therapies
Querol L.A., Hartung H.-P., Lewis R.A., van Doorn P.A., Hammond T.R., Atassi N., Alonso-Alonso M., Dalakas M.C.. The Role of the Complement System in Chronic Inflammatory Demyelinating Polyneuropathy: Implications for Complement-Targeted Therapies. Neurotherapeutics. 2022; 19(3)DOI:10.1007/s13311-022-01221-y. PMID:35378684. IF:5.700(Q1/2D).
01/01/2022
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach
Mayhew A.G., James M.K., Moore U., Sutherland H., Jacobs M., Feng J., Lowes L.P., Alfano L.N., Muni Lofra R., Rufibach L.E., Rose K., Duong T., Bello L., Pedrosa-Hernández I., Holsten S., Sakamoto C., Canal A., Sánchez-Aguilera Práxedes N., Thiele S., Siener C., Vandevelde B., DeWolf B., Maron E., Gordish-Dressman H., Hilsden H., Guglieri M., Hogrel J.-Y., Blamire A.M., Carlier P.G., Spuler S., Day J.W., Jones K.J., Bharucha-Goebel D.X., Salort-Campana E., Pestronk A., Walter M.C., Paradas C., Stojkovic T., Mori-Yoshimura M., Bravver E., Díaz-Manera J., Pegoraro E., Mendell J.R., Straub V.. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach. Frontiers in Neurology. 2022; 13DOI:10.3389/fneur.2022.828525. PMID:35359643. IF:3.400(Q2/5D).
01/01/2022
Predicting Outcome in Guillain-Barré Syndrome International Validation of the Modified Erasmus GBS Outcome Score
Doets A.Y., Lingsma H.F., Walgaard C., Islam B., Papri N., Davidson A., Yamagishi Y., Kusunoki S., Dimachkie M.M., Waheed W., Kolb N., Islam Z., Mohammad Q.D., Harbo T., Sindrup S.H., Chavada G., Willison H.J., Casasnovas C., Bateman K., Miller J.A.L., van den Berg B., Verboon C., Roodbol J., Leonhard S.E., Benedetti L., Kuwabara S., van den Bergh P., Monges S., Marfia G.A., Shahrizaila N., Galassi G., Péréon Y., Bürmann J., Kuitwaard K., Kleyweg R.P., Marchesoni C., Sedano Tous M.J., Querol L., Illa I., Wang Y., Nobile-Orazio E., Rinaldi S., Schenone A., Pardo J., Vermeij F.H., Lehmann H.C., Granit V., Cavaletti G., Gutiérrez-Gutiérrez G., Barroso F.A., Visser L.H., Katzberg H.D., Dardiotis E., Attarian S., van der Kooi A.J., Eftimov F., Wirtz P.W., Samijn J.P.A., Jacobus Gilhuis H., Hadden R.D.M., Holt J.K.L., Sheikh K.A., Karafiath S., Vytopil M., Antonini G., Feasby T.E., Faber C.G., Gijsbers C.J., Busby M., Roberts R.C., Silvestri N.J., Fazio R., van Dijk G.W., Garssen M.P.J., Straathof C.S.M., Gorson K.C., Jacobs B.C.. Predicting Outcome in Guillain-Barré Syndrome International Validation of the Modified Erasmus GBS Outcome Score. NEUROLOGY. 2022; 98(5)DOI:10.1212/WNL.0000000000013139. PMID:34937789. IF:9.900(Q1/1D).
01/12/2025
Treatment Preferences of Neurologists in Generalized Myasthenia Gravis: A Conjoint Analysis Study
Querol, L, Gómez-Ballesteros, R, Gutierrez-Gutierrez, G, Ares, A, Villaverde, R, Reyes, V, Armangue, T, Salas, E, Diaz-Abós, P, Rebollo, P, Sarmiento, M, Canal, N, Maurino, J, Cortes-Vicente, E. Treatment Preferences of Neurologists in Generalized Myasthenia Gravis: A Conjoint Analysis Study. Neurology and Therapy. 2025; 14(6)DOI:10.1007/s40120-025-00821-y. PMID:40971137. IF:4.800(Q1/2D).
01/11/2025
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy
Llansó, L, Reyes-Leiva, D, Segarra-Casas, A, Xucla-Ferrarons, T, Gallardo, E, Blanco, R, Gallano, P, Olive, M, Gonzalez-Quereda, L. Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy. Journal Of Neuromuscular Diseases. 2025; 12(6)DOI:10.1177/22143602251350849. PMID:40528517. IF:3.400(Q2/3D).
01/11/2025
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project
Puig-Ram, C, Segovia, S, Garcia-Uzquiano, R, Garzón, NCÑ, Aragon-Gawinska, K, Romero, MG, Expósito-Escudero, JM, Carrera-García, L, López-Lobato, M, Paradas, C, Mera, LG, Molinero, MA, Andrés, DG, Toro, E, Ramos, JAF, Grimalt, MA, de Laguna, LTB, Barrios, DG, Tizzano, EF, Cattinari, MG, Medina, J, Medina, RC, Munell, F, Sotoca, J, Martínez-Salcedo, E, Escribano, AM, Panadés, MP, Fernández-García, MA, Pitarch-Castellano, I, Vázquez-Costa, JF, Benito, DND, Nascimento, A. Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project. Journal Of Neuromuscular Diseases. 2025; 12(6)DOI:10.1177/22143602251361190. PMID:40726133. IF:3.400(Q2/3D).
01/10/2025
Autoimmune nodopathies: emerging insights and clinical implications
Collet-Vidiella, R, De Lorenzo, A, Querol, L. Autoimmune nodopathies: emerging insights and clinical implications. CURRENT OPINION IN NEUROLOGY. 2025; 38(5)DOI:10.1097/WCO.0000000000001399. PMID:40916889. IF:4.400(Q1/2D).
01/10/2025
From fibro/adipogenic progenitors to adipocytes: Understanding adipogenesis in muscle degeneration for disease modulation
Villalobos, E, Mehra, P, Diaz-Manera, J. From fibro/adipogenic progenitors to adipocytes: Understanding adipogenesis in muscle degeneration for disease modulation. JOURNAL OF PHYSIOLOGY-LONDON. 2025; 603(19)DOI:10.1113/JP288924. PMID:40846464. IF:4.400(Q1/1D).