Vílchez JJ - Search Results

1

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

Rubio-Solsona E, Martí S, Vílchez JJ, Palau F, Hoenicka J. Rubio-Solsona E, et al. Among authors: vilchez jj. PLoS One. 2018 Jun 6;13(6):e0198880. doi: 10.1371/journal.pone.0198880. eCollection 2018. PLoS One. 2018. PMID: 29874274 Free PMC article.

2

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

Rubio-Solsona E, Martí S, Vílchez JJ, Palau F, Hoenicka J. Rubio-Solsona E, et al. Among authors: vilchez jj. PLoS One. 2018 May 14;13(5):e0197254. doi: 10.1371/journal.pone.0197254. eCollection 2018. PLoS One. 2018. PMID: 29758057 Free PMC article.

3

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.

4

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.

5

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

6

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

7

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

8

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

Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C. Sevilla T, et al. Among authors: vilchez jj. Brain. 2016 Jan;139(Pt 1):62-72. doi: 10.1093/brain/awv311. Epub 2015 Oct 24. Brain. 2016. PMID: 26497905

9

[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. Neurologia. 2001 Mar;16(3):105-11. Neurologia. 2001. PMID: 11333779 Spanish.

10

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

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