Cuesta A - Search Results

1

Clinical features and genetic analysis of a Spanish family with spinocerebellar ataxia 6.

Arpa J, Cuesta A, Cruz-Martínez A, Santiago S, Sarriá J, Palau F. Arpa J, et al. Among authors: cuesta a. Acta Neurol Scand. 1999 Jan;99(1):43-7. doi: 10.1111/j.1600-0404.1999.tb00656.x. Acta Neurol Scand. 1999. PMID: 9925237

2

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.

García-Planells J, Cuesta A, Vilchez JJ, Martínez F, Prieto F, Palau F. García-Planells J, et al. Among authors: cuesta a. J Med Genet. 1999 Feb;36(2):148-51. J Med Genet. 1999. PMID: 10051016 Free PMC article.

3

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C. Claramunt R, et al. Among authors: cuesta a. Clin Genet. 2007 Apr;71(4):343-9. doi: 10.1111/j.1399-0004.2007.00774.x. Clin Genet. 2007. PMID: 17470135

4

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: cuesta a. Brain. 2003 Sep;126(Pt 9):2023-33. doi: 10.1093/brain/awg202. Epub 2003 Jun 23. Brain. 2003. PMID: 12821518

5

[Advances in the molecular genetics of the hereditary neuropathies].

Palau F, Cuesta A, Pedrola L. Palau F, et al. Among authors: cuesta a. Rev Neurol. 2002 Aug 1-15;35(3):246-53. Rev Neurol. 2002. PMID: 12235587 Free article. Review. Spanish.

6

Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.

Marco A, Cuesta A, Pedrola L, Palau F, Marín I. Marco A, et al. Among authors: cuesta a. Mol Biol Evol. 2004 Jan;21(1):176-87. doi: 10.1093/molbev/msh013. Epub 2003 Oct 31. Mol Biol Evol. 2004. PMID: 14595091

7

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. Nat Genet. 2002 Jan;30(1):22-5. doi: 10.1038/ng798. Epub 2001 Dec 17. Nat Genet. 2002. PMID: 11743580

8

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V. Nelis E, et al. Among authors: cuesta a. Neurology. 2002 Dec 24;59(12):1865-72. doi: 10.1212/01.wnl.0000036272.36047.54. Neurology. 2002. PMID: 12499475

9

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F. Claramunt R, et al. Among authors: cuesta a. J Med Genet. 2005 Apr;42(4):358-65. doi: 10.1136/jmg.2004.022178. J Med Genet. 2005. PMID: 15805163 Free PMC article. No abstract available.

10

Prenatally detected double trisomy: Klinefelter and Down syndrome.

Sanz-Cortés M, Raga F, Cuesta A, Claramunt R, Bonilla-Musoles F. Sanz-Cortés M, et al. Among authors: cuesta a. Prenat Diagn. 2006 Nov;26(11):1078-80. doi: 10.1002/pd.1561. Prenat Diagn. 2006. PMID: 16958145

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