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13/12/2022 Mutation update for the ACTN2 gene
Ranta-aho, J, Olive, M, Vandroux, M, Roticiani, G, Dominguez, C, Johari, M, Torella, A, Bohm, J, Turon, J, Nigro, V, Hackman, P, Laporte, J, Udd, B, Savarese, M. Mutation update for the ACTN2 gene. HUMAN MUTATION. 2022; 43(12)DOI:10.1002/humu.24470. PMID:36116040. IF:3.900(Q2/3D).
01/12/2022 Water T2 could predict functional decline in patients with dysferlinopathy
Moore, U, Araujo, ECD, Reyngoudt, H, Gordish-Dressman, H, Smith, FE, Wilson, I, James, M, Mayhew, A, Rufibach, L, Day, JW, Jones, KJ, Bharucha-Goebel, DX, Salort-Campana, E, Pestronk, A, Walter, MC, Paradas, C, Stojkovic, T, Mori-Yoshimura, M, Bravver, E, Pegoraro, E, Mendell, JR, Bushby, K, Blamire, AM, Straub, V, Carlier, PG, Diaz-Manera, J. Water T2 could predict functional decline in patients with dysferlinopathy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(6)DOI:10.1002/jcsm.13063. PMID:36058852. IF:8.900(Q1/1D).
01/11/2022 Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, J, Marti, P, Liquori, A, Muelas, N, Pitarch, I, Martinez-Dolz, L, Rodriguez, B, Gonzalez-Quereda, L, Damia, M, Aller, E, Selva-Gimenez, M, Vilchez, R, Diaz-Manera, J, Alonso-Perez, J, Barcena, JE, Jauregui, A, Gamez, J, Aladren, JA, Fernandez, A, Montolio, M, Azorin, I, Hervas, D, Casasus, A, Nieto, M, Gallano, P, Sevilla, T, Vilchez, JJ. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. ANNALS OF NEUROLOGY. 2022; 92(5)DOI:10.1002/ana.26461. PMID:35897138. IF:11.200(Q1/1D).
11/10/2022 Muscle MRI in McArdle Disease A European Multicenter Observational Study
Lokken, N, Revsbech, KL, Jacobsen, LN, Martinuzzi, A, Martin, MA, Diaz-Manera, J, Dominguez-Gonzalez, C, Brondani, G, Musumeci, O, Granata, F, Stefan, C, Merino-Sanchez, C, Peralta, CN, Khawajazada, T, Alonso-Perez, J, Toscano, A, Vissing, J. Muscle MRI in McArdle Disease A European Multicenter Observational Study. NEUROLOGY. 2022; 99(15)DOI:10.1212/WNL.0000000000200914. PMID:35853747. IF:9.900(Q1/1D).
01/10/2022 Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Schiava, M, Ikenaga, C, Villar-Quiles, RN, Caballero-Avila, M, Topf, A, Nishino, I, Kimonis, V, Udd, B, Schoser, B, Zanoteli, E, Souza, PVS, Tasca, G, Lloyd, T, Lopez-de Munain, A, Paradas, C, Pegoraro, E, Nadaj-Pakleza, A, De Bleecker, J, Badrising, U, Alonso-Jimenez, A, Kostera-Pruszczyk, A, Miralles, F, Shin, JH, Bevilacqua, JA, Olive, M, Vorgerd, M, Kley, R, Brady, S, Williams, T, Dominguez-Gonzalez, C, Papadimas, GK, Warman, J, Claeys, KG, de Visser, M, Muelas, N, LaForet, P, Malfatti, E, Alfano, LN, Nair, SS, Manousakis, G, Kushlaf, HA, Harms, MB, Nance, C, Ramos-Fransi, A, Rodolico, C, Hewamadduma, C, Cetin, H, Garcia-Garcia, J, Pal, E, Farrugia, ME, Lamont, PJ, Quinn, C, Nedkova-Hristova, V, Peric, S, Luo, SS, Oldfors, A, Taylor, K, Ralston, S, Stojkovic, T, Weihl, C, Diaz-Manera, J. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2022; 93(10)DOI:10.1136/jnnp-2022-328921. PMID:35896379. IF:11.000(Q1/1D).
01/10/2022 Autoimmune nodopathies, an emerging diagnostic category
Martin-Aguilar, L, Lleixa, C, Pascual-Goni, E. Autoimmune nodopathies, an emerging diagnostic category. CURRENT OPINION IN NEUROLOGY. 2022; 35(5)DOI:10.1097/WCO.0000000000001107. PMID:35989582. IF:4.800(Q1/3D).
20/09/2022 An International Perspective on Preceding Infections in Guillain-Barre Syndrome The IGOS-1000 Cohort
Leonhard, SE, van der Eijk, AA, Andersen, H, Antonini, G, Arends, S, Attarian, S, Barroso, FA, Bateman, KJ, Batstra, MR, Benedetti, L, van den Berg, B, Van den Bergh, P, Burmann, J, Busby, M, Casasnovas, C, Cornblath, DR, Davidson, A, Doets, AY, van Doorn, PA, de la Cour, CD, Feasby, TE, Fehmi, J, Garcia-Sobrino, T, Goldstein, JM, Gorson, KC, Granit, V, Hadden, RDM, Harbo, T, Hartung, HP, Hasan, I, Holbech, JV, Holt, JKL, Jahan, I, Islam, Z, Karafiath, S, Katzberg, HD, Kleyweg, RP, Kolb, N, Kuitwaard, K, Kuwahara, M, Kusunoki, S, Luijten, LWG, Kuwabara, S, Pan, EL, Lehmann, HC, Maas, M, Martin-Aguilar, L, Al Miller, J, Mohammad, QD, Monges, S, Nedkova-Hristova, V, Nobile-Orazio, E, Pardo, J, Pereon, Y, Querol, L, Reisin, R, Van Rijs, W, Rinaldi, S, Roberts, RC, Roodbol, J, Shahrizaila, N, Sindrup, SH, Stein, B, Cheng-Yin, T, Tankisi, H, Tio-Gillen, AP, Tous, MJS, Verboon, C, Vermeij, FH, Visser, LH, Huizinga, R, Willison, HJ, Jacobs, BC. An International Perspective on Preceding Infections in Guillain-Barre Syndrome The IGOS-1000 Cohort. NEUROLOGY. 2022; 99(12)DOI:10.1212/WNL.0000000000200885. PMID:35981895. IF:9.900(Q1/1D).
01/09/2022 Impact of Neuromyelitis Optica Spectrum Disorder on Quality of Life from the Patients' Perspective: An Observational Cross-Sectional Study
Meca-Lallana, JE, Gomez-Ballesteros, R, Perez-Miralles, F, Forero, L, Sepulveda, M, Calles, C, Martinez-Gines, ML, Gonzalez-Suarez, I, Boyero, S, Romero-Pinel, L, Sempere, AP, Meca-Lallana, V, Querol, L, Costa-Frossard, L, Prefasi, D, Maurino, J. Impact of Neuromyelitis Optica Spectrum Disorder on Quality of Life from the Patients' Perspective: An Observational Cross-Sectional Study. Neurology and Therapy. 2022; 11(3)DOI:10.1007/s40120-022-00356-6. PMID:35524037. IF:3.700(Q2/4D).
01/09/2022 IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy
Jentzer, A, Attal, A, Roue, C, Raymond, J, Lleixa, C, Illa, I, Querol, L, Taieb, G, Devaux, J. IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(5)DOI:10.1212/NXI.0000000000200014. PMID:35948442. IF:8.800(Q1/1D).
01/09/2022 Gadolinium-enhanced brain lesions in multiple sclerosis relapse
Martin-Aguilar, L, Presas-Rodriguez, S, Rovira, A, Capellades, J, Massuet-Vilamajo, A, Ramio-Torrenta, L, Tintore, M, Brieva-Ruiz, L, Moral, E, Cano-Orgaz, A, Blanco, Y, Batlle-Nadal, J, Carmona, O, Gea, M, Hervas-Garcia, JV, Ramo-Tello, C. Gadolinium-enhanced brain lesions in multiple sclerosis relapse. NEUROLOGIA. 2022; 37(7)DOI:10.1016/j.nrl.2021.10.005. PMID:36064284. IF:3.900(Q2/4D).
16/08/2022 The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates
Silva, AMS, Rodrigo, P, Moreno, CAM, Mendonca, RD, Estephan, ED, Camelo, CG, Campos, ED, Dias, AT, Nascimento, AM, Kulikowski, LD, Oliveira, ASB, Reed, UC, Goldfarb, LG, Olive, M, Zanoteli, E. The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY. 2022; 81(9)DOI:10.1093/jnen/nlac063. PMID:35898174. IF:3.200(Q2/5D).
01/07/2022 Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy
Statland, JM, Campbell, C, Desai, U, Karam, C, Diaz-Manera, J, Guptill, JT, Korngut, L, Genge, A, Tawil, RN, Elman, L, Joyce, NC, Wagner, KR, Manousakis, G, Amato, AA, Butterfield, RJ, Shieh, PB, Wicklund, M, Gamez, J, Bodkin, C, Pestronk, A, Weihl, CC, Vilchez-Padilla, JJ, Johnson, NE, Mathews, KD, Miller, B, Leneus, A, Fowler, M, van de Rijn, M, Attie, KM. Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. MUSCLE & NERVE. 2022; 66(1)DOI:10.1002/mus.27558. PMID:35428982. IF:3.400(Q2/5D).
01/07/2022 Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis
Reyes-Leiva, D, Lopez-Contreras, J, Moga, E, Pla-Junca, F, Lynton-Pons, E, Rojas-Garcia, R, Turon-Sans, J, Querol, L, Olive, M, Alvarez-Velasco, R, Caballero-Avila, M, Carbayo, A, Vesperinas-Castro, A, Domingo, P, Illa, I, Gallardo, E, Cortes-Vicente, E. Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(4)DOI:10.1212/NXI.0000000000200002. PMID:35728947. IF:8.800(Q1/1D).
01/06/2022 Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy
Reyngoudt, H, Smith, FE, Araujo, ECD, Wilson, I, Fernandez-Torron, R, James, MK, Moore, UR, Diaz-Manera, J, Marty, B, Azzabou, N, Gordish, H, Rufibach, L, Hodgson, T, Wallace, D, Ward, L, Boisserie, JM, Le Louer, J, Hilsden, H, Sutherland, H, Canal, A, Hogrel, JY, Jacobs, M, Stojkovic, T, Bushby, K, Mayhew, A, Straub, V, Carlier, PG, Blamire, AM. Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(3)DOI:10.1002/jcsm.12987. PMID:35373496. IF:8.900(Q1/1D).
01/06/2022 An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation
Koehorst, E, Odria, R, Capo, J, Nunez-Manchon, J, Arbex, A, Almendrote, M, Linares-Pardo, I, Natera-de Benito, D, Saez, V, Nascimento, A, Ortez, C, Rubio, MA, Diaz-Manera, J, Alonso-Perez, J, Lucente, G, Rodriguez-Palmero, A, Ramos-Fransi, A, Martinez-Pineiro, A, Nogales-Gadea, G, Suelves, M. An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation. Biomedicines. 2022; 10(6)DOI:10.3390/biomedicines10061372. PMID:35740394. IF:4.700(Q1/3D).
01/05/2022 Cognitive Performance and Health-Related Quality of Life in Patients with Neuromyelitis Optica Spectrum Disorder
Lopez-Soley, E, Meca-Lallana, JE, Llufriu, S, Blanco, Y, Gomez-Ballesteros, R, Maurino, J, Perez-Miralles, F, Forero, L, Calles, C, Martinez-Gines, ML, Gonzalez-Suarez, I, Boyero, S, Romero-Pinel, L, Sempere, AP, Meca-Lallana, V, Querol, L, Costa-Frossard, L, Sepulveda, M, Solana, E. Cognitive Performance and Health-Related Quality of Life in Patients with Neuromyelitis Optica Spectrum Disorder. Journal of Personalized Medicine. 2022; 12(5)DOI:10.3390/jpm12050743. PMID:35629165. IF:3.508(Q2/4D).
05/04/2022 Neurofilament Light Chain Levels in Anti-NMDAR Encephalitis and Primary Psychiatric Psychosis
Guasp, M, Martin-Aguilar, L, Sabater, L, Bioque, M, Armangue, T, Martinez-Hernandez, E, Landa, J, Maudes, E, Borras, R, Munoz-Lopetegi, A, Saiz, A, Castro-Fornieles, J, Graus, F, Parellada, E, Querol, L, Dalmau, J. Neurofilament Light Chain Levels in Anti-NMDAR Encephalitis and Primary Psychiatric Psychosis. NEUROLOGY. 2022; 98(14)DOI:10.1212/WNL.0000000000200021. PMID:35145006. IF:9.900(Q1/1D).
01/12/2024 A nationwide Guillain-Barré syndrome epidemiological study in Spain during the COVID-19 years
Blanco-Ruiz, M, Martín-Aguilar, L, Caballero-Avila, M, Lleixà, C, Pascual-Goñi, E, Collet-Vidiella, R, Tejada-Illa, C, Turon-Sans, J, Carbayo, A, Llansó, L, Cortés, E, Pascasio, LA, Querol, L. A nationwide Guillain-Barré syndrome epidemiological study in Spain during the COVID-19 years. EUROPEAN JOURNAL OF NEUROLOGY. 2024; 31(12)DOI:10.1111/ene.16439. PMID:39132887. IF:3.900(Q1/3D).
13/11/2024 Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease
Kishnani, PS, Byrne, BJ, Claeys, KG, Díaz-Manera, J, Dimachkie, MM, Kushlaf, H, Mozaffar, T, Roberts, M, Schoser, B, Hummel, N, Kopiec, A, Holdbrook, F, Shohet, S, Toscano, A. Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease. Journal Of Patient-Reported Outcomes. 2024; 8(1)DOI:10.1186/s41687-024-00805-w. PMID:39535661. IF:(Q/D).
01/11/2024 Modified radioimmunoassay versus ELISA to quantify anti-acetylcholine receptor antibodies in a mouse model of myasthenia gravis
Mariscal, A, Martínez, C, Goethals, L, Cortés-Vicente, E, Moltó, E, Juárez, C, Barneda-Zahonero, B, Querol, L, Le Panse, R, Gallardo, E. Modified radioimmunoassay versus ELISA to quantify anti-acetylcholine receptor antibodies in a mouse model of myasthenia gravis. JOURNAL OF IMMUNOLOGICAL METHODS. 2024; 534DOI:10.1016/j.jim.2024.113748. PMID:39241980. IF:1.600(Q4/9D).