Vandenberghe A - Search Results

1

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.

2

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E. Bouhouche A, et al. Among authors: vandenberghe a. Am J Hum Genet. 1999 Sep;65(3):722-7. doi: 10.1086/302542. Am J Hum Genet. 1999. PMID: 10441578 Free PMC article.

3

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

4

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings.

Tabaraud F, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM. Tabaraud F, et al. Among authors: vandenberghe a. Muscle Nerve. 1999 Oct;22(10):1442-7. doi: 10.1002/(sici)1097-4598(199910)22:10<1442::aid-mus16>3.0.co;2-6. Muscle Nerve. 1999. PMID: 10487913

5

Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease.

Sindou P, Vallat JM, Chapon F, Archelos JJ, Tabaraud F, Anani T, Braund KG, Maisonobe T, Hauw JJ, Vandenberghe A. Sindou P, et al. Among authors: vandenberghe a. Muscle Nerve. 1999 Jan;22(1):99-104. doi: 10.1002/(sici)1097-4598(199901)22:1<99::aid-mus14>3.0.co;2-5. Muscle Nerve. 1999. PMID: 9883862

6

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.

Latour P, Lévy N, Paret M, Chapon F, Chazot G, Clavelou P, Couratier P, Dumas R, Ollagnon E, Pouget J, Setiey A, Vallat JM, Boucherat M, Fontes M, Vandenberghe A. Latour P, et al. Among authors: vandenberghe a. Neurogenetics. 1997 Sep;1(2):117-23. doi: 10.1007/s100480050017. Neurogenetics. 1997. PMID: 10732813

7

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

8

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

9

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

Timmerman V, Raeymaekers P, De Jonghe P, De Winter G, Swerts L, Jacobs K, Gheuens J, Martin JJ, Vandenberghe A, Van Broeckhoven C. Timmerman V, et al. Among authors: vandenberghe a. Am J Hum Genet. 1990 Oct;47(4):680-5. Am J Hum Genet. 1990. PMID: 2220808 Free PMC article.

10

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

Raeymaekers P, Timmerman V, De Jonghe P, Swerts L, Gheuens J, Martin JJ, Muylle L, De Winter G, Vandenberghe A, Van Broeckhoven C. Raeymaekers P, et al. Among authors: vandenberghe a. Am J Hum Genet. 1989 Dec;45(6):953-8. Am J Hum Genet. 1989. PMID: 2589322 Free PMC article.

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