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jean louis mandel
jean louis mandel
prof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHU
Verified email at igbmc.fr
Title
Cited by
Cited by
Year
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, ...
Science 271 (5254), 1423-1427, 1996
32161996
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
I Oberle, F Rousseau, D Heitz, C Kretz, D Devys, A Hanauer, J Boue, ...
Science 252 (5009), 1097-1102, 1991
18261991
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
J Mosser, AM Douar, CO Sarde, P Kioschis, R Feil, H Moser, AM Poustka, ...
Nature 361 (6414), 726-730, 1993
14441993
Clinical and genetic abnormalities in patients with Friedreich's ataxia
A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, JL Mandel, ...
New England Journal of Medicine 335 (16), 1169-1175, 1996
12261996
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
HL Paulson, MK Perez, Y Trottier, JQ Trojanowski, SH Subramony, ...
Neuron 19 (2), 333-344, 1997
10061997
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
G Imbert, F Saudou, G Yvert, D Devys, Y Trottier, JM Garnier, C Weber, ...
Nature genetics 14 (3), 285-291, 1996
10001996
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
G David, N Abbas, G Stevanin, A Dürr, G Yvert, G Cancel, C Weber, ...
Nature genetics 17 (1), 65-70, 1997
9531997
The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
D Devys, Y Lutz, N Rouyer, JP Bellocq, JL Mandel
Nature genetics 4 (4), 335-340, 1993
9271993
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
V Campuzano, L Montermini, Y Lutz, L Cova, C Hindelang, S Jiralerspong, ...
Human molecular genetics 6 (11), 1771-1780, 1997
8851997
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
Y Trottier, Y Lutz, G Stevanin, G Imbert, D Devys, G Cancel, F Saudou, ...
Nature 378 (6555), 403-406, 1995
7851995
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
F Rousseau, D Heitz, V Biancalana, S Blumenfeld, C Kretz, J Boué, ...
New England Journal of Medicine 325 (24), 1673-1681, 1991
7471991
Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein
K Ouahchi, M Arita, H Kayden, F Hentati, MB Hamida, R Sokol, H Arai, ...
Nature genetics 9 (2), 141-145, 1995
7051995
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
J Laporte, LJ Hu, C Kretz, JL Mandel, P Kioschis, JF Coy, SM Klauck, ...
Nature genetics 13 (2), 175-182, 1996
7021996
Fragile X syndrome
RJ Hagerman, E Berry-Kravis, HC Hazlett, DB Bailey, H Moine, RF Kooy, ...
Nature reviews Disease primers 3 (1), 1-19, 2017
6722017
α-Amanitin: A specific inhibitor of one of two DNA-dependent RNA polymerase activities from calf thymus
PC C. Kedinger, M. Gniazdowski, JL Mandel., F
Biochemical and biophysical research communications, 1970
5901970
A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2
RG Walters, S Jacquemont, A Valsesia, AJ de Smith, D Martinet, ...
Nature 463 (7281), 671-675, 2010
5862010
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
Y Trottier, D Devys, G Imbert, F Saudou, I An, Y Lutz, C Weber, Y Agid, ...
Nature genetics 10 (1), 104-110, 1995
5661995
Ovalbumin gene is split in chicken DNA
R Breathnach, JL Mandel, P Chambon
Nature 270 (5635), 314-319, 1977
5651977
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif
C Schaeffer, B Bardoni, JL Mandel, B Ehresmann, C Ehresmann, H Moine
The EMBO journal, 2001
5502001
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions
A Lunkes, KS Lindenberg, L Ben-Haı̈em, C Weber, D Devys, ...
Molecular cell 10 (2), 259-269, 2002
4902002
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