Works matching AU Vílchez, Juan J.

Results: 18

Primary lateral sclerosis and hereditary spastic paraplegia in sporadic patients. An important distinction in descriptive studies.

Published in:

2016

By:

Vázquez‐Costa, Juan F.;
Bataller, Luis;
Vílchez, Juan J.;
Vázquez-Costa, Juan F;
Vílchez, Juan J

Publication type:

Letter

Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.

Published in:

Journal of International Advanced Otology, 2017, v. 13, n. 1, p. 93, doi. 10.5152/iao.2017.3379

By:

Sivera, Rafael;
Cavalle, Laura;
Vílchez, Juan J.;
Espinós, Carmen;
Pérez-Garrigues, Herminio;
Sevilla, Teresa

Publication type:

Article

Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model.

Published in:

Skeletal Muscle, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13395-024-00353-3

By:

Poyatos-García, Javier;
Soblechero-Martín, Patricia;
Liquori, Alessandro;
López-Martínez, Andrea;
Maestre, Pilar;
González-Romero, Elisa;
Vázquez-Manrique, Rafael P.;
Muelas, Nuria;
García-García, Gema;
Ohana, Jessica;
Arechavala-Gomeza, Virginia;
Vílchez, Juan J.

Publication type:

Article

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

Published in:

Nature Genetics, 2002, v. 30, n. 1, p. 22, doi. 10.1038/ng798

By:

Cuesta, Ana;
Pedrola, Laia;
Sevilla, Teresa;
García-Planells, Javier;
Chumillas, María José;
Mayordomo, Fernando;
LeGuern, Eric;
Marín, Ignacio;
Vílchez, Juan J.;
Palau, Francesc

Publication type:

Article

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.

Published in:

Journal of the Peripheral Nervous System, 2010, v. 15, n. 4, p. 334, doi. 10.1111/j.1529-8027.2010.00286.x

By:

Sivera, Rafael;
Espinós, Carmen;
Vílchez, Juan J.;
Mas, Fernando;
Martínez-Rubio, Dolores;
Chumillas, María José;
Mayordomo, Fernando;
Muelas, Nuria;
Bataller, Luis;
Palau, Francesc;
Sevilla, Teresa

Publication type:

Article

ITPR3‐associated neuropathy: Report of a further family with adult onset intermediate Charcot–Marie–Tooth disease.

Published in:

European Journal of Neurology, 2024, v. 31, n. 12, p. 1, doi. 10.1111/ene.16485

By:

Cabello‐Murgui, Javier;
Jiménez‐Jiménez, Jesús;
Vílchez, Juan J;
Azorín, Inmaculada;
Martí‐Martínez, Pilar;
Millet, Elvira;
Lupo, Vincenzo;
Sevilla, Teresa;
Sivera, Rafael

Publication type:

Article

Insights into phenotypic variability caused by GARS1 pathogenic variants.

Published in:

European Journal of Neurology, 2024, v. 31, n. 10, p. 1, doi. 10.1111/ene.16416

By:

Jiménez‐Jiménez, Jesús;
Navarrete, Irene;
Azorín, Inmaculada;
Martí, Pilar;
Vílchez, Roger;
Muelas, Nuria;
Cabello‐Murgui, Javier;
Millet, Elvira;
Vázquez‐Costa, Juan Francisco;
Vílchez, Juan J.;
Sevilla, Teresa;
Sivera, Rafael

Publication type:

Article

ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.

Published in:

PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197254

By:

Rubio-Solsona, Estrella;
Martí, Salvador;
Vílchez, Juan J.;
Palau, Francesc;
Hoenicka, Janet

Publication type:

Article

Clinical, electrophysiological and morphological findings of Charcot–Marie–Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.

Published in:

Brain: A Journal of Neurology, 2003, v. 126, n. 9, p. 2023, doi. 10.1093/brain/awg202

By:

Teresa Sevilla;
Ana Cuesta;
María José Chumillas;
Fernando Mayordomo;
Laia Pedrola;
Francesc Palau;
Juan J. Vílchez

Publication type:

Article

A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.

Published in:

Neuropathology & Applied Neurobiology, 2022, v. 48, n. 5, p. 1, doi. 10.1111/nan.12817

By:

Argente‐Escrig, Herminia;
Vílchez, Juan J.;
Frasquet, Marina;
Muelas, Nuria;
Azorín, Inmaculada;
Vílchez, Roger;
Millet‐Sancho, Elvira;
Pitarch, Inmaculada;
Tomás‐Vila, Miguel;
Vázquez‐Costa, Juan F.;
Mas‐Estellés, Fernando;
Marco‐Marín, Clara;
Espinós, Carmen;
Serrano‐Lorenzo, Pablo;
Martin, Miguel A.;
Lupo, Vincenzo;
Sevilla, Teresa

Publication type:

Article

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.

Published in:

Human Mutation, 1998, v. 11, p. S95, doi. 10.1002/humu.1380110132

By:

Bort, Sylvia;
Sevilla, Teresa;
García-Planells, Javier;
Blesa, David;
Paricio, Nuria;
Vílchez, Juan J.;
Prieto, Felix;
Palau, Francesc

Publication type:

Article

Correction: ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.

Published in:

2018

By:

Rubio-Solsona, Estrella;
Martí, Salvador;
Vílchez, Juan J.;
Palau, Francesc;
Hoenicka, Janet

Publication type:

Correction Notice

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Published in:

2022

By:

Alonso-Pérez, Jorge;
González-Quereda, Lidia;
Bruno, Claudio;
Panicucci, Chiara;
Alavi, Afagh;
Nafissi, Shahriar;
Nilipour, Yalda;
Zanoteli, Edmar;
Isihi, Lucas Michielon de Augusto;
Melegh, Béla;
Hadzsiev, Kinga;
Muelas, Nuria;
Vílchez, Juan J;
Dourado, Mario Emilio;
Kadem, Naz;
Kutluk, Gultekin;
Umair, Muhammad;
Younus, Muhammad;
Pegorano, Elena;
Bello, Luca

Publication type:

journal article

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

Published in:

2016

By:

Sevilla, Teresa;
Lupo, Vincenzo;
Martínez-Rubio, Dolores;
Sancho, Paula;
Sivera, Rafael;
Chumillas, María J.;
García-Romero, Mar;
Pascual-Pascual, Samuel I.;
Muelas, Nuria;
Dopazo, Joaquín;
Vílchez, Juan J.;
Palau, Francesc;
Espinós, Carmen

Publication type:

journal article

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 3, p. 683, doi. 10.1093/brain/awt357

By:

Kornak, Uwe;
Mademan, Inès;
Schinke, Marte;
Voigt, Martin;
Krawitz, Peter;
Hecht, Jochen;
Barvencik, Florian;
Schinke, Thorsten;
Gießelmann, Sebastian;
Beil, F. Timo;
Pou-Serradell, Adolf;
Vílchez, Juan J.;
Beetz, Christian;
Deconinck, Tine;
Timmerman, Vincent;
Kaether, Christoph;
De Jonghe, Peter;
Hübner, Christian A.;
Gal, Andreas;
Amling, Michael

Publication type:

Article

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1508, doi. 10.1093/brain/awt074

By:

Melià, Maria J.;
Kubota, Akatsuki;
Ortolano, Saida;
Vílchez, Juan J.;
Gámez, Josep;
Tanji, Kurenai;
Bonilla, Eduardo;
Palenzuela, Lluís;
Fernández-Cadenas, Israel;
Přistoupilová, Anna;
García-Arumí, Elena;
Andreu, Antoni L.;
Navarro, Carmen;
Hirano, Michio;
Martí, Ramon

Publication type:

Article

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 86, doi. 10.1007/s004399900201

By:

De Castro, Marisol;
García-Planells, Javier;
Monrós, Eugènia;
Cañizares, Joaquín;
Vázquez-Manrique, Rafael;
Vílchez, Juan J.;
Urtasun, Miguel;
Lucas, Miguel;
Navarro, Guillermo;
Izquierdo, Guillermo;
Moltó, Maria Dolores;
Palau, Francesc

Publication type:

Article

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4603, doi. 10.1093/hmg/ddp427

By:

Lupo, Vincenzo;
Galindo, Máximo I.;
Martínez-Rubio, Dolores;
Sevilla, Teresa;
Vílchez, Juan J.;
Palau, Francesc;
Espinós, Carmen

Publication type:

Article