Vital A - Search Results

1

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, Goizet C, Rötig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, Lehalle D, Duffourd Y, Rivière JB, Thauvin-Robinet C, Beaudet AL, Faivre L. Nambot S, et al. Among authors: vital a. Clin Genet. 2017 Aug;92(2):188-198. doi: 10.1111/cge.12985. Epub 2017 Mar 1. Clin Genet. 2017. PMID: 28155230

2

A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.

Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet C. Vital A, et al. Among authors: vital c. Neuromuscul Disord. 2012 Aug;22(8):735-41. doi: 10.1016/j.nmd.2012.04.001. Epub 2012 Apr 28. Neuromuscul Disord. 2012. PMID: 22546700

3

Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.

Vital A, Sole G, Casenave P, Magdelaine C, Ferrer X, Vital C, Goizet C. Vital A, et al. Among authors: vital c. J Peripher Nerv Syst. 2013 Jun;18(2):181-4. doi: 10.1111/jns5.12028. J Peripher Nerv Syst. 2013. PMID: 23781966

4

Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations.

Vital A, Ferrer X, Lagueny A, Vandenberghe A, Latour P, Goizet C, Canron MH, Louiset P, Petry KG, Vital C. Vital A, et al. Among authors: vital c. J Peripher Nerv Syst. 2001 Jun;6(2):79-84. doi: 10.1046/j.1529-8027.2001.01011.x. J Peripher Nerv Syst. 2001. PMID: 11446387

5

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

Martin-Negrier ML, Sole G, Jardel C, Vital C, Ferrer X, Vital A. Martin-Negrier ML, et al. Among authors: vital a, vital c. Eur J Neurol. 2011 Mar;18(3):436-41. doi: 10.1111/j.1468-1331.2010.03171.x. Epub 2010 Sep 29. Eur J Neurol. 2011. PMID: 20880070 Review.

6

Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene.

Vital A, Ferrer X, Goizet C, Rouanet-Larrivière M, Eimer S, Bonne G, Vital C. Vital A, et al. Among authors: vital c. Neuromuscul Disord. 2005 Oct;15(9-10):618-21. doi: 10.1016/j.nmd.2005.06.016. Neuromuscul Disord. 2005. PMID: 16084085

7

Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature.

Bouillot S, Martin-Négrier ML, Vital A, Ferrer X, Lagueny A, Vincent D, Coquet M, Orgogozo JM, Bloch B, Vita C. Bouillot S, et al. Among authors: vital a. J Peripher Nerv Syst. 2002 Dec;7(4):213-20. doi: 10.1046/j.1529-8027.2002.02027.x. J Peripher Nerv Syst. 2002. PMID: 12477166 Review.

8

Lhermitte-Duclos type cerebellum hamartoma and Cowden disease.

Vital A, Vital C, Martin-Negrier ML, McGrogan G, Bioulac P, Trojani M, Loiseau H, Rougier A. Vital A, et al. Among authors: vital c. Clin Neuropathol. 1994 Jul-Aug;13(4):229-31. Clin Neuropathol. 1994. PMID: 7955671

9

Are substantia nigra neurons subject to mitochondrial dysfunction in early life more able to adapt?

Vital C, Vital A. Vital C, et al. Among authors: vital a. Mov Disord. 2013 Oct;28(12):1638. doi: 10.1002/mds.25651. Epub 2013 Oct 1. Mov Disord. 2013. PMID: 24114880 No abstract available.

10

Prion disease with octapeptide repeat insertion.

Vital C, Gray F, Vital A, Ferrer X, Julien J. Vital C, et al. Among authors: vital a. Clin Exp Pathol. 1999;47(3-4):153-9. Clin Exp Pathol. 1999. PMID: 10472735

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

305 results

Search Page