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Chema Millan Salvador
Chema Millan Salvador
Instituto de Investigación Sanitaria La Fe
Dirección de correo verificada de iislafe.es
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Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
M Calucho, S Bernal, L Alías, F March, A Venceslá, FJ Rodríguez-Álvarez, ...
Neuromuscular Disorders 28 (3), 208-215, 2018
3512018
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
I Ebermann, HPN Scholl, P Charbel Issa, E Becirovic, J Lamprecht, ...
Human genetics 121, 203-211, 2007
2482007
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
LM Astuto, JM Bork, MD Weston, JW Askew, RR Fields, DJ Orten, ...
The American Journal of Human Genetics 71 (2), 262-275, 2002
2482002
An update on the genetics of usher syndrome
JM Millán, E Aller, T Jaijo, F Blanco-Kelly, A Gimenez-Pardo, C Ayuso
Journal of ophthalmology 2011, 2011
2372011
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
1972005
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
1922002
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
L Alías, S Bernal, P Fuentes-Prior, MJ Barceló, E Also, ...
Human genetics 125, 29-39, 2009
1872009
Retinitis pigmentosa and allied conditions today: a paradigm of translational research
C Ayuso, JM Millan
Genome medicine 2, 1-11, 2010
1562010
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
1552013
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
S Bort, E Nelis, V Timmerman, T Sevilla, A Cruz-Martínez, F Martínez, ...
Human genetics 99, 746-754, 1997
1511997
Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process
C Ayuso, JM Millán, M Mancheno, R Dal-Ré
European Journal of Human Genetics 21 (10), 1054-1059, 2013
1402013
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy
C Vaché, T Besnard, P Le Berre, G García‐García, D Baux, L Larrieu, ...
Human mutation 33 (1), 104-108, 2012
1362012
BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
C Deveault, G Billingsley, JL Duncan, J Bin, R Theal, A Vincent, ...
Human mutation 32 (6), 610-619, 2011
1362011
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
A Ávila-Fernández, D Cantalapiedra, E Aller, E Vallespín, ...
Molecular vision 16, 2550, 2010
1252010
Development of a genotyping microarray for Usher syndrome
FPM Cremers, WJ Kimberling, M Külm, AP De Brouwer, E Van Wijk, ...
Journal of medical genetics 44 (2), 153-160, 2007
1232007
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy
N Muelas, P Hackman, H Luque, M Garcés-Sánchez, I Azorín, ...
Neurology 75 (8), 732-741, 2010
1182010
Antisense oligonucleotide-based splice correction for USH2A-associated retinal degeneration caused by a frequent deep-intronic mutation
RWN Slijkerman, C Vaché, M Dona, G García-García, M Claustres, ...
Molecular Therapy-Nucleic Acids 5, 2016
1152016
Targeted next generation sequencing for molecular diagnosis of Usher syndrome
MJ Aparisi, E Aller, C Fuster-García, G García-García, R Rodrigo, ...
Orphanet journal of rare diseases 9, 1-15, 2014
992014
AMPK activation protects from neuronal dysfunction and vulnerability across nematode, cellular and mouse models of Huntington's disease
RP Vázquez-Manrique, F Farina, K Cambon, M Dolores Sequedo, ...
Human molecular genetics 25 (6), 1043-1058, 2016
982016
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population
G Billingsley, J Bin, KJ Fieggen, JL Duncan, C Gerth, K Ogata, SS Wodak, ...
Journal of medical genetics 47 (7), 453-463, 2010
972010
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