Vilchez J - Search Results

1

Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.

Palau F, Löfgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, Martin JJ, Vilchez J, Prieto F, Van Broeckhoven C. Palau F, et al. Among authors: vilchez j. Hum Mol Genet. 1993 Dec;2(12):2031-5. doi: 10.1093/hmg/2.12.2031. Hum Mol Genet. 1993. PMID: 8111370

2

Audiologic evaluation in Charcot-Marie-Tooth disease.

Pérez H, Vílchez J, Sevilla T, Martínez L. Pérez H, et al. Among authors: vilchez j. Scand Audiol Suppl. 1988;30:211-3. Scand Audiol Suppl. 1988. PMID: 3227273

3

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus.

Smeyers P, Monrós E, Vílchez J, Lopez-Arlandis J, Prieto F, Palau F. Smeyers P, et al. Among authors: vilchez j. Hum Genet. 1996 Jun;97(6):824-8. doi: 10.1007/BF02346197. Hum Genet. 1996. PMID: 8641704

4

[Neuroimaging study with morphometric analysis of hereditary and idiopathic ataxia].

Villanueva-Haba V, Garcés-Sánchez M, Bataller L, Palau F, Vílchez J. Villanueva-Haba V, et al. Among authors: vilchez j. Neurologia. 2001 Mar;16(3):105-11. Neurologia. 2001. PMID: 11333779 Spanish.

5

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

Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F. Cuesta A, et al. Among authors: vilchez jj. Nat Genet. 2002 Jan;30(1):22-5. doi: 10.1038/ng798. Epub 2001 Dec 17. Nat Genet. 2002. PMID: 11743580

6

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

Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vílchez JJ. Sevilla T, et al. Among authors: vilchez jj. Brain. 2003 Sep;126(Pt 9):2023-33. doi: 10.1093/brain/awg202. Epub 2003 Jun 23. Brain. 2003. PMID: 12821518

7

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I. Vilchez JJ, et al. Arch Neurol. 2005 Aug;62(8):1256-9. doi: 10.1001/archneur.62.8.1256. Arch Neurol. 2005. PMID: 16087766

8

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, Muelas N, Bataller L, Domenech R, Espinós C, Palau F. Sevilla T, et al. Among authors: vilchez jj. Brain. 2008 Nov;131(Pt 11):3051-61. doi: 10.1093/brain/awn228. Epub 2008 Sep 23. Brain. 2008. PMID: 18812441

9

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

Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C. Lupo V, et al. Among authors: vilchez jj. Hum Mol Genet. 2009 Dec 1;18(23):4603-14. doi: 10.1093/hmg/ddp427. Epub 2009 Sep 10. Hum Mol Genet. 2009. PMID: 19744956 Free article.

10

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

Sivera R, Espinós C, Vílchez JJ, Mas F, Martínez-Rubio D, Chumillas MJ, Mayordomo F, Muelas N, Bataller L, Palau F, Sevilla T. Sivera R, et al. Among authors: vilchez jj. J Peripher Nerv Syst. 2010 Dec;15(4):334-44. doi: 10.1111/j.1529-8027.2010.00286.x. J Peripher Nerv Syst. 2010. PMID: 21199105

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