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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).