jean louis mandel

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laporte jocelynIGBMC (Inserm, Cnrs, Strasbourg University)Verified email at igbmc.fr
Francois RousseauProfesseur, Faculté de médecine, Université LavalVerified email at fmed.ulaval.ca
Amelie PITONMCU-PH Lab of Genetic diagnosis CHU Strasbourg, Researcher at IGBMCVerified email at igbmc.fr
Durr AlexandraICMVerified email at upmc.fr
Jean MullerAssociate Professor of Genetics, Strasbourg University, Inserm, UMR_S 1112Verified email at unistra.fr
Robert FeilInstitute of Molecular Genetics of Montpellier-CNRS & University of MontpellierVerified email at igmm.cnrs.fr
Hentati FayçalMDVerified email at rns.tn
Claire RedinMedigenome, Swiss Institute of Genomic Medicine, Geneva, SwitzerlandVerified email at medigenome.ch
Faivre Laurenceprofesseur de génétique, Université de BourgogneVerified email at chu-dijon.fr
Anthony P MonacoPresident, Tufts UniversityVerified email at tufts.edu
Giorgio SirugoUniversity of Pennsylvania, Perelman School of Medicine, Philadelphia, USAVerified email at pennmedicine.upenn.edu
Ricardo Fujita, Ph.D.Centro de Genética y Biología Molecular, Facultad de Medicina, Universidad de San Martin de PorresVerified email at usmp.pe
Clotilde Lagier-TourenneMassachusetts General Hospital and Harvard Medical SchoolVerified email at mgh.harvard.edu
Dominique HelmlingerGroup Leader, CRBM, University of MontpellierVerified email at crbm.cnrs.fr
Frank GannonEMBL Galway Madison Herston Leicester StrasbourgVerified email at qimr.edu.au
Stephan KempAmsterdam University Medical Centers, the NetherlandsVerified email at amsterdamumc.nl
Marten HofkerProfessor of Molecular Genetics, UMCG, Groningen University, The NetherlandsVerified email at umcg.nl
Charles SchwartzDirector of Research, Greenwood Genetic CenterVerified email at ggc.org
edouard w khandjianprofesseur université lavalVerified email at crulrg.ulaval.ca
Sergio CocozzaProfessor of Medical Genetics, University of Naples (Italy)Verified email at unina.it

jean louis mandel

prof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHU

Verified email at igbmc.fr

génétique humaine maladies monogéniques diagnostic génétique retard mental autisme


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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	3317	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 252 (5009), 1097-1102, 1991	1856	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	1481	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	1274	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	1030	1997
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	1028	1996
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	974	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	942	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	931	1997
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	800	2017
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	796	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	755	1991
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	726	1996
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	716	1995
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	626	2010
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	598	1970
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	569	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, 2001	566	2001
Ovalbumin gene is split in chicken DNA R Breathnach, JL Mandel, P Chambon Nature 270 (5635), 314-319, 1977	561	1977
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	517	2002

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