Vandenberghe A - Search Results

1

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders.

Bernard R, Boyer A, Nègre P, Malzac P, Latour P, Vandenberghe A, Philip N, Lévy N. Bernard R, et al. Among authors: vandenberghe a. Eur J Hum Genet. 2002 May;10(5):297-302. doi: 10.1038/sj.ejhg.5200804. Eur J Hum Genet. 2002. PMID: 12082504

2

Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication.

Latour P, Boutrand L, Levy N, Bernard R, Boyer A, Claustrat F, Chazot G, Boucherat M, Vandenberghe A. Latour P, et al. Among authors: vandenberghe a. Clin Chem. 2001 May;47(5):829-37. Clin Chem. 2001. PMID: 11325885

3

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N. De Sandre-Giovannoli A, et al. Among authors: vandenberghe a. Am J Hum Genet. 2002 Mar;70(3):726-36. doi: 10.1086/339274. Epub 2002 Jan 17. Am J Hum Genet. 2002. PMID: 11799477 Free PMC article.

4

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.

Stojkovic T, Latour P, Viet G, de Seze J, Hurtevent JF, Vandenberghe A, Vermersch P. Stojkovic T, et al. Among authors: vandenberghe a. Neuromuscul Disord. 2004 Apr;14(4):261-4. doi: 10.1016/j.nmd.2004.01.003. Neuromuscul Disord. 2004. PMID: 15019704

5

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.

Ressot C, Latour P, Blanquet-Grossard F, Sturtz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D. Ressot C, et al. Among authors: vandenberghe a. Hum Genet. 1996 Aug;98(2):172-5. doi: 10.1007/s004390050183. Hum Genet. 1996. PMID: 8698335

6

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A, et al. Nelis E, et al. Among authors: vandenberghe a. Eur J Hum Genet. 1996;4(1):25-33. doi: 10.1159/000472166. Eur J Hum Genet. 1996. PMID: 8800924 Free article.

7

Modelization of motor nerve conduction velocities for Charcot-Marie-Tooth (Type-1) patients. CMT-France Network.

Sturtz FG, Chauvin F, Ollagnon-Roman E, Bost M, Latour P, Bonnebouche C, Gonnaud PM, Bady B, Chazot G, Vandenberghe A. Sturtz FG, et al. Among authors: vandenberghe a. Eur Neurol. 1996;36(4):224-8. doi: 10.1159/000117254. Eur Neurol. 1996. PMID: 8814426

8

New mutations in the X-linked form of Charcot-Marie-Tooth disease.

Latour P, Fabreguette A, Ressot C, Blanquet-Grossard F, Antoine JC, Calvas P, Chapon F, Corbillon E, Ollagnon E, Sturtz F, Boucherat M, Chazot G, Dautigny A, Pham-Dinh D, Vandenberghe A. Latour P, et al. Among authors: vandenberghe a. Eur Neurol. 1997;37(1):38-42. doi: 10.1159/000117403. Eur Neurol. 1997. PMID: 9018031 Review.

9

Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease.

Sturtz FG, Latour P, Mocquard Y, Cruz S, Fenoll B, LeFur JM, Mabin D, Chazot G, Vandenberghe A. Sturtz FG, et al. Among authors: vandenberghe a. Eur Neurol. 1997;38(1):26-30. doi: 10.1159/000112898. Eur Neurol. 1997. PMID: 9252795

10

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

Lopes J, Ravisé N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Lévy N, Wood N, Tachi N, Bouche P, Latour P, Ruberg M, Brice A, LeGuern E. Lopes J, et al. Among authors: vandenberghe a. Hum Mol Genet. 1998 Jan;7(1):141-8. doi: 10.1093/hmg/7.1.141. Hum Mol Genet. 1998. PMID: 9384615

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