Palau F - Search Results

1

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: palau f. Clin Genet. 2007 Apr;71(4):343-9. doi: 10.1111/j.1399-0004.2007.00774.x. Clin Genet. 2007. PMID: 17470135

2

[The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1].

Bort S, Sevilla T, Vílchez JJ, Prieto F, Palau F. Bort S, et al. Among authors: palau f. Med Clin (Barc). 1995 May 6;104(17):648-52. Med Clin (Barc). 1995. PMID: 7623491 Spanish.

3

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. Hum Mol Genet. 1993 Dec;2(12):2031-5. doi: 10.1093/hmg/2.12.2031. Hum Mol Genet. 1993. PMID: 8111370

4

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.

Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F. Bort S, et al. Among authors: palau f. Hum Genet. 1997 Jun;99(6):746-54. doi: 10.1007/s004390050442. Hum Genet. 1997. PMID: 9187667

5

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

Sevilla T, Martínez-Rubio D, Márquez C, Paradas C, Colomer J, Jaijo T, Millán JM, Palau F, Espinós C. Sevilla T, et al. Among authors: palau f. Clin Genet. 2013 Jun;83(6):565-70. doi: 10.1111/cge.12015. Epub 2012 Oct 10. Clin Genet. 2013. PMID: 22978647

6

[Genetics of peripheral neuropathies and hereditary ataxias].

Palau F, Sevilla T. Palau F, et al. Neurologia. 1995 Dec;10 Suppl 1:32-43. Neurologia. 1995. PMID: 8838557 Review. Spanish.

7

Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.

Martínez F, Tomás M, Millán JM, Fernández A, Palau F, Prieto F. Martínez F, et al. Among authors: palau f. J Med Genet. 1998 Apr;35(4):284-7. doi: 10.1136/jmg.35.4.284. J Med Genet. 1998. PMID: 9598720 Free PMC article.

8

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: palau f. J Med Genet. 1999 Feb;36(2):148-51. J Med Genet. 1999. PMID: 10051016 Free PMC article.

9

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.

De Castro M, García-Planells J, Monrós E, Cañizares J, Vázquez-Manrique R, Vílchez JJ, Urtasun M, Lucas M, Navarro G, Izquierdo G, Moltó MD, Palau F. De Castro M, et al. Among authors: palau f. Hum Genet. 2000 Jan;106(1):86-92. doi: 10.1007/s004399900201. Hum Genet. 2000. PMID: 10982187

10

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

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

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