Vilchez JJ - Search Results

1

Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent.

Monrós E, Smeyers P, Rodius F, Cañizares J, Moltó MD, Vilchez JJ, Pandolfo M, Lopez-Arlandis J, de Frutos R, Prieto F, et al. Monrós E, et al. Among authors: vilchez jj. Eur J Hum Genet. 1994;2(4):291-9. doi: 10.1159/000472373. Eur J Hum Genet. 1994. PMID: 7704559

2

Genetic diagnosis of Friedreich's ataxia.

Palau F, Monros E, Prieto F, Vilchez JJ, Lopez-Arlandis JM. Palau F, et al. Among authors: vilchez jj. Lancet. 1991 Oct 26;338(8774):1087. doi: 10.1016/0140-6736(91)91950-y. Lancet. 1991. PMID: 1681394 No abstract available.

3

[Genetic analysis of Friedreich's ataxia using polymorphic DNA markers].

Palau F, Vílchez JJ, Beneyto M, López Arlandis JM, Castellano FM, Badía L, Prieto F. Palau F, et al. Among authors: vilchez jj. Med Clin (Barc). 1990 May 5;94(17):651-4. Med Clin (Barc). 1990. PMID: 1974690 Spanish.

4

[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: vilchez jj. Med Clin (Barc). 1995 May 6;104(17):648-52. Med Clin (Barc). 1995. PMID: 7623491 Spanish.

5

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.

Palau F, De Michele G, Vilchez JJ, Pandolfo M, Monrós E, Cocozza S, Smeyers P, Lopez-Arlandis J, Campanella G, Di Donato S, et al. Palau F, et al. Among authors: vilchez jj. Ann Neurol. 1995 Mar;37(3):359-62. doi: 10.1002/ana.410370312. Ann Neurol. 1995. PMID: 7695235

6

Friedreich's ataxia: an epidemiological study in Valencia, Spain, based on consanguinity analysis.

López-Arlandis JM, Vílchez JJ, Palau F, Sevilla T. López-Arlandis JM, et al. Among authors: vilchez jj. Neuroepidemiology. 1995;14(1):14-9. doi: 10.1159/000109774. Neuroepidemiology. 1995. PMID: 7898602

7

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: vilchez jj. Hum Genet. 1997 Jun;99(6):746-54. doi: 10.1007/s004390050442. Hum Genet. 1997. PMID: 9187667

8

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.

Monrós E, Moltó MD, Martínez F, Cañizares J, Blanca J, Vílchez JJ, Prieto F, de Frutos R, Palau F. Monrós E, et al. Among authors: vilchez jj. Am J Hum Genet. 1997 Jul;61(1):101-10. doi: 10.1086/513887. Am J Hum Genet. 1997. PMID: 9245990 Free PMC article.

9

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.

Bort S, Sevilla T, García-Planells J, Blesa D, Paricio N, Vílchez JJ, Prieto F, Palau F. Bort S, et al. Among authors: vilchez jj. Hum Mutat. 1998;Suppl 1:S95-8. doi: 10.1002/humu.1380110132. Hum Mutat. 1998. PMID: 9452053 No abstract available.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

159 results

Search Page