Palau F - Search Results

1

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

Fernández-Burriel M, Martínez-Rubio D, Lupo V, Pérez-Colosía V, Piñán-López E, Palau F, Espinós C. Fernández-Burriel M, et al. Among authors: palau f. Pediatr Res. 2008 Sep;64(3):262-4. doi: 10.1203/PDR.0b013e31817d9bf7. Pediatr Res. 2008. PMID: 18458655 Free article.

2

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

García-Planells J, Burguera JA, Solís P, Millán JM, Ginestar D, Palau F, Espinós C. García-Planells J, et al. Among authors: palau f. Hum Mutat. 2005 May;25(5):453-9. doi: 10.1002/humu.20167. Hum Mutat. 2005. PMID: 15832309 Free article.

3

Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation.

Artuch R, Brea-Calvo G, Briones P, Aracil A, Galván M, Espinós C, Corral J, Volpini V, Ribes A, Andreu AL, Palau F, Sánchez-Alcázar JA, Navas P, Pineda M. Artuch R, et al. Among authors: palau f. J Neurol Sci. 2006 Jul 15;246(1-2):153-8. doi: 10.1016/j.jns.2006.01.021. Epub 2006 May 3. J Neurol Sci. 2006. PMID: 16677673

4

Autosomal recessive cerebellar ataxias.

Palau F, Espinós C. Palau F, et al. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.

5

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: palau f. Brain. 2008 Nov;131(Pt 11):3051-61. doi: 10.1093/brain/awn228. Epub 2008 Sep 23. Brain. 2008. PMID: 18812441

6

Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C.

Martínez-Rubio D, Millán JM, Palau F, Espinós C. Martínez-Rubio D, et al. Among authors: palau f. Hum Genet. 2008 Oct;124(3):320. Hum Genet. 2008. PMID: 18846676 No abstract available.

7

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: palau f. 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.

8

The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

Aller E, Larrieu L, Jaijo T, Baux D, Espinós C, González-Candelas F, Nájera C, Palau F, Claustres M, Roux AF, Millán JM. Aller E, et al. Among authors: palau f. Eur J Hum Genet. 2010 Jul;18(7):788-93. doi: 10.1038/ejhg.2010.14. Epub 2010 Feb 10. Eur J Hum Genet. 2010. PMID: 20145675 Free PMC article.

9

Genetics and pathogenesis of inherited ataxias and spastic paraplegias.

Espinós C, Palau F. Espinós C, et al. Among authors: palau f. Adv Exp Med Biol. 2009;652:263-96. doi: 10.1007/978-90-481-2813-6_18. Adv Exp Med Biol. 2009. PMID: 20225032 Review.

10

Inherited neuromuscular diseases. Translation from pathomechanisms to therapies.

Espinós C, Felipo V, Palau F. Espinós C, et al. Among authors: palau f. Adv Exp Med Biol. 2009;652:v-vi. Adv Exp Med Biol. 2009. PMID: 20235380 No abstract available.

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