jean louis mandel
jean louis mandel
prof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHU
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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
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, 1097-1102, 1991
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
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
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
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
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
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
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
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
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
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
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
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
Ovalbumin gene is split in chicken DNA
R Breathnach, JL Mandel, P Chambon
Nature 270 (5635), 314-319, 1977
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
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
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 20 (17), 4803-4813, 2001
Adenovirus as an expression vector in muscle cells in vivo
B Quantin, LD Perricaudet, S Tajbakhsh, JL Mandel
Proceedings of the National Academy of Sciences 89 (7), 2581-2584, 1992
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
E Trivier, D De Cesare, S Jacquot, S Pannetier, E Zackai, I Young, ...
Nature 384 (6609), 567-570, 1996
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