Publicacions - IR Sant Pau

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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).

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).