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Carmen Espinós
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Año
Autosomal recessive cerebellar ataxias
F Palau, C Espinós
Orphanet journal of rare diseases 1 (1), 1-19, 2006
2192006
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
R Claramunt, L Pedrola, T Sevilla, AL de Munain, J Berciano, A Cuesta, ...
Journal of medical genetics 42 (4), 358-365, 2005
1902005
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
A Adato, S Vreugde, T Joensuu, N Avidan, R Hamalainen, O Belenkiy, ...
European Journal of Human Genetics 10 (6), 339-350, 2002
1822002
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series
R Sivera, T Sevilla, JJ Vílchez, D Martínez-Rubio, MJ Chumillas, ...
Neurology 81 (18), 1617-1625, 2013
1452013
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy
T Sevilla, T Jaijo, D Nauffal, D Collado, MJ Chumillas, JJ Vilchez, ...
Brain 131 (11), 3051-3061, 2008
1132008
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation
R Artuch, G Brea-Calvo, P Briones, A Aracil, M Galván, C Espinós, ...
Journal of the neurological sciences 246 (1-2), 153-158, 2006
1082006
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot‐Marie‐Tooth disease
R Sivera, C Espinós, JJ Vílchez, F Mas, D Martínez‐Rubio, MJ Chumillas, ...
Journal of the Peripheral Nervous System 15 (4), 334-344, 2010
842010
The USH2A c. 2299delG mutation: dating its common origin in a Southern European population
E Aller, L Larrieu, T Jaijo, D Baux, C Espinós, F González-Candelas, ...
European journal of human genetics 18 (7), 788-793, 2010
742010
Mutations in the MORC2 gene cause axonal Charcot–Marie–Tooth disease
T Sevilla, V Lupo, D Martínez-Rubio, P Sancho, R Sivera, MJ Chumillas, ...
Brain 139 (1), 62-72, 2016
712016
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway
V Lupo, MI Galindo, D Martinez-Rubio, T Sevilla, JJ Vílchez, F Palau, ...
Human molecular genetics 18 (23), 4603-4614, 2009
562009
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4
R Claramunt, T Sevilla, V Lupo, A Cuesta, JM Millán, JJ Vílchez, F Palau, ...
Clinical genetics 71 (4), 343-349, 2007
532007
Coenzyme Q10‐responsive ataxia: 2‐year‐treatment follow‐up
M Pineda, R Montero, A Aracil, MM O'Callaghan, A Mas, C Espinos, ...
Movement disorders 25 (9), 1262-1268, 2010
512010
Epidemiology of Usher syndrome in Valencia and Spain
C Espinos, JM Millan, M Beneyto, C Najera
Public Health Genomics 1 (4), 223-228, 1998
501998
Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease
D Pla-Martín, E Calpena, V Lupo, C Márquez, E Rivas, R Sivera, T Sevilla, ...
Human molecular genetics 24 (1), 213-229, 2015
482015
Significant linkage and non‐linkage of type 1 von Willebrand disease to the von Willebrand factor gene
P Casaña, F Martínez, S Haya, C Espinós, JA Aznar
British journal of haematology 115 (3), 692-700, 2001
472001
Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: new mutations, R1315C and R1341W, associated with type 2M and 2B variants
P Casaña, F Martínez, C Espinós, S Haya, JI Lorenzo, JA Aznar
American journal of hematology 59 (1), 57-63, 1998
431998
Genetics of the Charcot‐Marie‐Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy‐Russe in depth
T Sevilla, D Martínez‐Rubio, C Márquez, C Paradas, J Colomer, T Jaijo, ...
Clinical genetics 83 (6), 565-570, 2013
412013
Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling
EA Gouttenoire, V Lupo, E Calpena, L Bartesaghi, F Schüpfer, JJ Médard, ...
Glia 61 (7), 1041-1051, 2013
402013
Assessment of targeted next-generation sequencing as a tool for the diagnosis of Charcot-Marie-Tooth disease and hereditary motor neuropathy
V Lupo, F García-García, P Sancho, C Tello, M García-Romero, ...
The Journal of molecular diagnostics 18 (2), 225-234, 2016
382016
Severe and moderate hemophilia A: identification of 38 new genetic alterations
P Casaña, N Cabrera, AR Cid, S Haya, M Beneyto, C Espinós, V Cortina, ...
haematologica 93 (7), 1091-1094, 2008
372008
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Artículos 1–20