Mandel JL - Search Results

1

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.

Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimarães J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, Saudou F, Lebre AS, Yahyaoui M, Hentati F, Vernant JC, Klockgether T, Mandel JL, Agid Y, Brice A. Cancel G, et al. Among authors: mandel jl. Hum Mol Genet. 1997 May;6(5):709-15. doi: 10.1093/hmg/6.5.709. Hum Mol Genet. 1997. PMID: 9158145

2

Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.

Sirugo G, Keats B, Fujita R, Duclos F, Purohit K, Koenig M, Mandel JL. Sirugo G, et al. Among authors: mandel jl. Am J Hum Genet. 1992 Mar;50(3):559-66. Am J Hum Genet. 1992. PMID: 1347194 Free PMC article.

3

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.

Heitz D, Devys D, Imbert G, Kretz C, Mandel JL. Heitz D, et al. Among authors: mandel jl. J Med Genet. 1992 Nov;29(11):794-801. doi: 10.1136/jmg.29.11.794. J Med Genet. 1992. PMID: 1453430 Free PMC article.

4

Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.

Belal S, Panayides K, Sirugo G, Ben Hamida C, Ioannou P, Hentati F, Beckmann J, Koenig M, Mandel JL, Ben Hamida M, et al. Belal S, et al. Among authors: mandel jl. Am J Hum Genet. 1992 Dec;51(6):1372-6. Am J Hum Genet. 1992. PMID: 1463017 Free PMC article.

5

Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker.

Fujita R, Agid Y, Trouillas P, Seck A, Tommasi-Davenas C, Driesel AJ, Olek K, Grzeschik KH, Nakamura Y, Mandel JL, Hanauer A. Fujita R, et al. Among authors: mandel jl. Genomics. 1989 Jan;4(1):110-1. doi: 10.1016/0888-7543(89)90323-6. Genomics. 1989. PMID: 2563350

6

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.

Trottier Y, Devys D, Imbert G, Saudou F, An I, Lutz Y, Weber C, Agid Y, Hirsch EC, Mandel JL. Trottier Y, et al. Among authors: mandel jl. Nat Genet. 1995 May;10(1):104-10. doi: 10.1038/ng0595-104. Nat Genet. 1995. PMID: 7647777

7

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M. Ouahchi K, et al. Among authors: mandel jl. Nat Genet. 1995 Feb;9(2):141-5. doi: 10.1038/ng0295-141. Nat Genet. 1995. PMID: 7719340

8

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.

Cartier N, Sarde CO, Douar AM, Mosser J, Mandel JL, Aubourg P. Cartier N, et al. Among authors: mandel jl. Hum Mol Genet. 1993 Nov;2(11):1949-51. doi: 10.1093/hmg/2.11.1949. Hum Mol Genet. 1993. PMID: 7904210

9

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.

Trottier Y, Imbert G, Poustka A, Fryns JP, Mandel JL. Trottier Y, et al. Among authors: mandel jl. Am J Med Genet. 1994 Jul 15;51(4):454-7. doi: 10.1002/ajmg.1320510431. Am J Med Genet. 1994. PMID: 7943018

10

The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb.

Duclos F, Rodius F, Wrogemann K, Mandel JL, Koenig M. Duclos F, et al. Among authors: mandel jl. Hum Mol Genet. 1994 Jun;3(6):909-14. doi: 10.1093/hmg/3.6.909. Hum Mol Genet. 1994. PMID: 7951235

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