A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness

Autor: Alba Segarra-Casas, Roger Collet, Lidia Gonzalez-Quereda, Ana Vesperinas, Marta Caballero-Ávila, Alvaro Carbayo, Jordi Díaz-Manera, María José Rodriguez, Eduard Gallardo, Pia Gallano, Montse Olivé

Publikováno v: Neuromuscular Disorders. 33:319-323

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::159b374eaf62b63f0153281bd3811cd7
https://doi.org/10.1016/j.nmd.2023.02.006

Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis

Autor: Cinta Lleixà, Marta Caballero-Ávila, Elba Pascual-Goñi, Lorena Martín-Aguilar, Nuria Vidal, Clara Tejada, Eduardo Valdés-Hevia, Elisa Zárate, Ana Vesperinas, Roger Collet, Teresa Franco, Laura Martínez-Martínez, Elena Cortés-Vicente, Ricard Rojas-García, Beatriz Gómez-Anson, Anna Gil, Cristina González, Luis Brieva, Sergio Martínez-Yélamos, Luis Querol

Multiple sclerosis (MS) is a tissue-specific autoimmune disease of the central nervous system in which the antigen(s) remains elusive. Antibodies targeting the flotillin-1/2 (FLOT–1/2) complex have been described in 1-2% of the patients in a recent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e97f75b496f6c8f021d39b28cd2a841
https://doi.org/10.1101/2022.09.14.22278529

High prevalence of paraspinal muscle involvement in adults with McArdle disease

Autor: Rodrigo Álvarez‐Velasco, Claudia Alejandra Nuñez‐Peralta, Jorge Alonso‐Pérez, Eduard Gallardo, Roger Collet‐Vidiella, David Reyes‐Leiva, Elba Pascual‐Goñi, Lorena Martín‐Aguilar, Marta Caballero‐Ávila, Álvaro Carbayo‐Viejo, Jaume Llauger‐Roselló, Jordi Díaz‐Manera, Montse Olivé

Publikováno v: MusclenerveREFERENCES. 65(5)

Very few studies analyzing the pattern of muscle involvement in magnetic resonance imaging (MRI) of patients with McArdle disease have been reported to date. We aimed to examine the pattern of muscle fat replacement in patients with McArdle disease.W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55d692b38d4eebfe5fa92dcbd0756a3b
https://pubmed.ncbi.nlm.nih.gov/35174518

Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy

Autor: Noemi de Luna, Isabel Illa, Fritz Zimprich, Fu Liong Hiew, Vera Bril, Cornelia Roesler, Romana Höftberger, Özgür Duman, Sangeeta Scotton, Elba Pascual-Goñi, Raquel Piñar-Morales, Cinta Lleixà, Laura Muñoz-Delgado, Janina Turon-Sans, Kalliopi Pitarokoili, Bart C. Jacobs, Xavier Suárez-Calvet, Olalla Albertí, Maria Angeles López-Pérez, Mercedes Usón-Martín, Darwin Segura-Chávez, Claudia Steen, Andrea Cortese, Laura Martínez-Martínez, Lorena Martín-Aguilar, Elisa Vegezzi, Julio Pardo-Fernández, Ricard Rojas-García, Marta Caballero-Ávila, Alejandra Carvajal, Yusuf A. Rajabally, Eduardo Nobile-Orazio, Giuseppe Liberatore, Adája Baars, Fabian Márquez, Jordi Diaz-Manera, Luis Querol, Manuel Bartolomé, Eduard Gallardo, Nicolau Ortiz, Macarena Cabrera-Serrano, Alicia Martínez-Piñeiro, Elena Cortés-Vicente

Publikováno v: Neurology-Neuroimmunology & Neuroinflammation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto Cervantes
Neurol Neuroimmunol Neuroinflamm
Neurology® Neuroimmunology & Neuroinflammation
article-version (Version of Record) 3
Neurology(R) neuroimmunology & neuroinflammation, 9(1). Lippincott Williams & Wilkins

Background and ObjectivesTo study the clinical and laboratory features of antineurofascin-155 (NF155)–positive autoimmune nodopathy (AN).MethodsPatients with anti-NF155 antibodies detected on routine immunologic testing were included. Clinical char

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a3ea9333489090982cb61f721798e09
http://www.scopus.com/inward/record.url?scp=85126170268&partnerID=8YFLogxK