jean louis mandel

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laporte jocelynIGBMC (Inserm, Cnrs, Strasbourg University)Email verificata su igbmc.fr
Francois RousseauProfesseur, Faculté de médecine, Université LavalEmail verificata su fmed.ulaval.ca
Amelie PITONMCU-PH Lab of Genetic diagnosis CHU Strasbourg, Researcher at IGBMCEmail verificata su igbmc.fr
Durr AlexandraICMEmail verificata su upmc.fr
Jean MullerAssociate Professor of Genetics, Strasbourg University, Inserm, UMR_S 1112Email verificata su unistra.fr
Robert FeilInstitute of Molecular Genetics of Montpellier-CNRS & University of MontpellierEmail verificata su igmm.cnrs.fr
Hentati FayçalMDEmail verificata su rns.tn
Faivre Laurenceprofesseur de génétique, Université de BourgogneEmail verificata su chu-dijon.fr
Claire RedinMedigenome, Swiss Institute of Genomic Medicine, Geneva, SwitzerlandEmail verificata su medigenome.ch
Giorgio SirugoUniversity of Pennsylvania, Perelman School of Medicine, Philadelphia, USAEmail verificata su pennmedicine.upenn.edu
Ricardo Fujita, Ph.D.Centro de Genética y Biología Molecular, Facultad de Medicina, Universidad de San Martin de PorresEmail verificata su usmp.pe
Anthony P MonacoUniversity Professor and President emeritus, Tufts UniversityEmail verificata su tufts.edu
Dominique HelmlingerGroup Leader, CRBM, University of MontpellierEmail verificata su crbm.cnrs.fr
Clotilde Lagier-TourenneMassachusetts General Hospital and Harvard Medical SchoolEmail verificata su mgh.harvard.edu
Frank GannonEMBL Galway Madison Herston Leicester StrasbourgEmail verificata su qimr.edu.au
Stephan KempAmsterdam University Medical Centers, the NetherlandsEmail verificata su amsterdamumc.nl
Marten HofkerProfessor of Molecular Genetics, UMCG, Groningen University, The NetherlandsEmail verificata su umcg.nl
Charles SchwartzDirector of Research, Greenwood Genetic CenterEmail verificata su ggc.org
edouard w khandjianprofesseur université lavalEmail verificata su crulrg.ulaval.ca
Sergio CocozzaProfessor of Medical Genetics, University of Naples (Italy)Email verificata su unina.it

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jean louis mandel

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

Email verificata su igbmc.fr

génétique humaine maladies monogéniques diagnostic génétique retard mental autisme


Titolo Ordina per citazioni Ordina per anno Ordina per titolo	Citata da Citata da	Anno
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	3335	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	1839	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	1472	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	1279	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	1039	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	1030	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
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	945	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	940	1993
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	791	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	790	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	757	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	724	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	715	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	632	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	595	1970
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	573	2001
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
Ovalbumin gene is split in chicken DNA R Breathnach, JL Mandel, P Chambon Nature 270 (5635), 314-319, 1977	560	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	519	2002

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