Volpini V - Search Results

1

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

Cuenca-León E, Banchs I, Serra SA, Latorre P, Fernàndez-Castillo N, Corominas R, Valverde MA, Volpini V, Fernández-Fernández JM, Macaya A, Cormand B. Cuenca-León E, et al. Among authors: volpini v. J Neurol Sci. 2009 May 15;280(1-2):10-4. doi: 10.1016/j.jns.2009.01.005. Epub 2009 Feb 20. J Neurol Sci. 2009. PMID: 19232643

2

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

Sintas C, Carreño O, Fernàndez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-León E, Barroeta I, Roig C, Volpini V, Macaya A, Cormand B. Sintas C, et al. Among authors: volpini v. Sci Rep. 2017 May 31;7(1):2514. doi: 10.1038/s41598-017-02554-x. Sci Rep. 2017. PMID: 28566750 Free PMC article.

3

Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes.

Cuenca-León E, Corominas R, Fernàndez-Castillo N, Volpini V, Del Toro M, Roig M, Macaya A, Cormand B. Cuenca-León E, et al. Among authors: volpini v. Cephalalgia. 2008 Oct;28(10):1039-47. doi: 10.1111/j.1468-2982.2008.01645.x. Epub 2008 Jul 17. Cephalalgia. 2008. PMID: 18644040

4

Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.

Banchs I, Casasnovas C, Montero J, Martínez-Matos JA, Volpini V. Banchs I, et al. Among authors: volpini v. Neuromuscul Disord. 2008 Dec;18(12):974-8. doi: 10.1016/j.nmd.2008.09.006. Epub 2008 Nov 8. Neuromuscul Disord. 2008. PMID: 18996695

5

Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.

Banchs I, Casasnovas C, Montero J, Volpini V, Martínez-Matos JA. Banchs I, et al. Among authors: volpini v. Muscle Nerve. 2010 Aug;42(2):184-8. doi: 10.1002/mus.21643. Muscle Nerve. 2010. PMID: 20544920

6

Giant SCA8 alleles in nine children whose mother has two moderately large ones.

Corral J, Genís D, Banchs I, San Nicolás H, Armstrong J, Volpini V. Corral J, et al. Among authors: volpini v. Ann Neurol. 2005 Apr;57(4):549-53. doi: 10.1002/ana.20421. Ann Neurol. 2005. PMID: 15786481

7

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.

Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V. Pujana MA, et al. Among authors: volpini v. Hum Genet. 1999 Jun;104(6):516-22. doi: 10.1007/s004390050997. Hum Genet. 1999. PMID: 10453742

8

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.

Casasnovas C, Banchs I, Corral J, Martínez-Matos JA, Volpini V. Casasnovas C, et al. Among authors: volpini v. Clin Genet. 2006 Dec;70(6):516-23. doi: 10.1111/j.1399-0004.2006.00724.x. Clin Genet. 2006. PMID: 17100997

9

Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population.

Fuentes JJ, Banchs I, Volpini V, Estivill X. Fuentes JJ, et al. Among authors: volpini v. Int J Legal Med. 1993;105(5):271-7. doi: 10.1007/BF01370384. Int J Legal Med. 1993. PMID: 8471544

10

Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients.

Pujana MA, Gratacós M, Corral J, Banchs I, Sánchez A, Genís D, Cervera C, Volpini V, Estivill X. Pujana MA, et al. Among authors: volpini v. Hum Genet. 1997 Nov;101(1):18-21. doi: 10.1007/s004390050578. Hum Genet. 1997. PMID: 9385362

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

110 results

Search Page

Filters