Neurosciences

Neuromuscular Diseases

2020
Revista Internacional

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Cabrera-Serrano, M; Coote, DJ; Azmanov, D; Goullee, H; Andersen, E; McLean, C; Davis, M; Ishimura, R; Stark, Z; Vallat, JM; Komatsu, M; Kornberg, A; Ryan, M; Laing, NG; Ravenscroft, G

Vol: JOURNAL OF MEDICAL GENETICS Revista Internacional
Revista Internacional

Cautionary note on the use of Caenorhabditis elegans to study muscle phenotypes caused by mutations in the human MYH7 gene

Gil-Galvez, A; Carbonell-Corvillo, P; Paradas, C; Miranda-Vizuete, A

Vol: BIOTECHNIQUES Revista Internacional
Revista Internacional

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

Cortes-Vicente, E; Alvarez-Velasco, R; Segovia, S; Paradas, C; Casasnovas, C; Guerrero-Sola, A; Pardo, J; Ramos-Fransi, A; Sevilla, T; de Munain, AL; Gomez, MT; Jerico, I; Gutierrez-Gutierrez, G; Pelayo-Negro, AL; Martin, MA; Mendoza, MD; Moris, G; Rojas-Garcia, R; Diaz-Manera, J; Querol, L; Gallardo, E; Velez, B; Alberti, MA; Galan, L; Garcia-Sobrino, T; Martinez-Pineiro, A; Lozano-Veintimilla, A; Fernandez-Torron, R; Cano-Abascal, A; Illa, I

Vol: NEUROLOGY Revista Internacional
Revista Internacional

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

Dominguez-Gonzalez, C; Badosa, C; Madruga-Garrido, M; Marti, I; Paradas, C; Ortez, C; Diaz-Manera, J; Berardo, A; Alonso-Perez, J; Trifunov, S; Cuadras, D; Kalko, SG; Blazquez-Bermejo, C; Camara, Y; Marti, R; Mavillard, F; Martin, MA; Montoya, J; Ruiz-Pesini, E; Villarroya, J; Montero, R; Villarroya, F; Artuch, R; Hirano, M; Nascimento, A; Jimenez-Mallebrera, C

Vol: SCIENTIFIC REPORTS Revista Internacional
Revista Internacional

HeterozygousCAPN3missense variants causing autosomal-dominant calpainopathy in seven unrelated families

Gonzalez-Mera, L; Ravenscroft, G; Cabrera-Serrano, M; Ermolova, N; Dominguez-Gonzalez, C; Arteche-Lopez, A; Soltanzadeh, P; Evesson, F; Navas, C; Mavillard, F; Clayton, J; Rodrigo, P; Servian-Morilla, E; Cooper, ST; Waddell, L; Reardon, K; Corbett, A; Hernandez-Lain, A; Sanchez, A; Perez, JE; Paradas-Lopez, C; Rivas-Infante, E; Spencer, M; Laing, N; Olive, M

Vol: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY Revista Internacional
Revista Internacional

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

Moore, U; Jacobs, M; Fernandez-Torron, R; Rossello, JL; Smith, FE; James, M; Mayhew, A; Rufibach, L; Carlier, PG; Blamire, AM; 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; Straub, V; Diaz-Manera, J

Vol: FRONTIERS IN NEUROLOGY Revista Internacional
Revista Internacional

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern

Servian-Morilla, E; Cabrera-Serrano, M; Johnson, K; Pandey, A; Ito, A; Rivas, E; Chamova, T; Muelas, N; Mongini, T; Nafissi, S; Claeys, KG; Grewal, RP; Takeuchi, M; Hao, H; Bonnemann, C; Neto, OLA; Medne, L; Brandsema, J; Topf, A; Taneva, A; Vilchez, JJ; Tournev, I; Haltiwanger, RS; Takeuchi, H; Jafar-Nejad, H; Straub, V; Paradas, C

Vol: ACTA NEUROPATHOLOGICA Revista Internacional
Revista Internacional

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C

Vol: Acta Neuropathol Revista Internacional
Revista Internacional

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

Beecroft, SJ; Yau, KS; Allcock, RJN; Mina, K; Gooding, R; Faiz, F; Atkinson, VJ; Wise, C; Sivadorai, P; Trajanoski, D; Kresoje, N; Ong, R; Duff, RM; Cabrera-Serrano, M; Nowak, KJ; Pachter, N; Ravenscroft, G; Lamont, PJ; Davis, MR; Laing, NG

Vol: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY Revista Internacional
2019
Revista Internacional

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C*.

Vol: Acta Neuropathol Commun. Revista Internacional
Revista Internacional

Deoxynucleoside therapy for thymidine kinase 2 (TK2) deficient myopathy.

Cristina Domínguez-González, Marcos Madruga-Garrido, Fabiola Mavillard, Caterina Garone, Francisco Javier Aguirre-Rodríguez, Alice Donati, Karin Kleinsteuber, Itxaso Martí, Elena Martín-Hernández, Juan P. Morealejo-Aycinena, Francina Munell, Andrés Nascimento, Susana G. Kalko, M. Dolores Sardina, ConcepcionÁlvarez del Vayo, Olga Serrano, Yuelin Long, BruceLevin, John L.P. Thompson, Kristen Engelstad, Jasim Uddin, Javier Torres-Torronteras, Cecilia Jimenez-Mallebrera, Ramon Martí, Carmen Paradas*, Michio Hirano*.

Vol: Annals Neurol Revista Internacional
Revista Internacional

Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C*.

Vol: Orphanet J Rare Dis. Revista Internacional
Revista Internacional

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.

2. Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C*, Cabrera-Serrano M*.

Vol: Ann Clin Transl Neurol. Revista Internacional
2018
Revista Internacional

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Macarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, Eloy Rivas, Bharti Morar, Aurelio Hernández-Laín, Montse Olive, Nuria Muelas, Eduardo Khan, Alejandra Carvajal, Pablo Quiroga, Jordi Diaz-Manera, Mark Davis, Rainiero Ávila, Cristina Domínguez, Norma Beatriz Romero, Juan J. Vílchez, David Comas, Nigel G. Laing, Jocelyn Laporte, Luba Kalaydjieva, Carmen Paradas*.

Vol: Neurology Revista Internacional
Revista Internacional

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

Carbonell-Corvillo, P; Tristán-Clavijo, E; Cabrera-Serrano, M; Servián-Morilla E; García-Martín, G.; Villarreal-Pérez, L; Rivas-Infante, E.; Area-Gómez, E.; Chamorro-Muñoz, M.I; Gil-Gálvez A.; Miranda-Vizuete A.; Martinez-Mir, A.; Laing, N.; Paradas, C*.

Vol: Neuromuscul Disord Revista Internacional
2017
Revista Internacional

Rules of tissue packing involving different cell types: human muscle organization

Daniel Sánchez-Gutiérrez, Aurora Sáez, Carmen Paradas, Luis M. Escudero

Vol: Scientific Report Revista Internacional
2016
Revista Internacional

A missense mutation in POGLUT1 causes recessive limb-girdle muscular dystrophy.

Emilia Servián-Morilla, Hideyuki Takeuchi, Tom V Lee, Jordi Clarimon, Fabiola Mavillard, Estela Area-Gómez, Eloy Rivas, Jose L Nieto-González, Maria C Rivero, Macarena Cabrera, Leonardo Gómez-Sánchez, Jose A Martínez-López, Beatriz Estrada, Celedonio Márquez, Yolanda Morgado, Xavier Suárez-Calvet, Guillermo Pita, Eduard Gallardo, Rafael Fernández-Chacón, Michio Hirano, Robert S Haltiwanger, Hamed Jafar-Nejad, Carmen Paradas.

Vol: EMBO Mol Med Revista Internacional
2014
Revista Internacional

Branching enzyme deficiency: expanding the clinical spectrum.

Paradas C, Akman O, Ionete C, Lau H, Riskind P, Jones D, Smith T, Hirano M, Dimauro s.

Vol: JAMA Neurol Revista Internacional