2023 - Research.com Genetics in France Leader Award
2022 - Research.com Genetics and Molecular Biology in France Leader Award
1994 - Member of Academia Europaea
His main research concerns Genetics, Molecular biology, Gene, Cell biology and Allele. His Genetics research focuses on Locus, X chromosome, Trinucleotide repeat expansion, Fragile X syndrome and Spinocerebellar ataxia. He interconnects Hybridization probe, Point mutation, Ciliopathy, Zebrafish and Gene mapping in the investigation of issues within Locus.
The Molecular biology study combines topics in areas such as Gene expression, X-linked myotubular myopathy, DNA, Expression vector and Alternative splicing. His studies deal with areas such as Peroxisome, Neurite, Biochemistry and Translation as well as Cell biology. His Allele research incorporates themes from Ataxia, Genetic linkage and Myotonic dystrophy.
Genetics, Gene, Molecular biology, X chromosome and Fragile X syndrome are his primary areas of study. His study in Locus, Genetic linkage, Gene mapping, Mutation and Missense mutation are all subfields of Genetics. His research in Mutation intersects with topics in Phenotype and Bardet–Biedl syndrome.
His studies in Missense mutation integrate themes in fields like Genetic heterogeneity and Point mutation. His Molecular biology study incorporates themes from RNA, Biochemistry, DNA and Gene expression. His Fragile X syndrome research is multidisciplinary, incorporating elements of Fragile x, Allele, FMR1, Mutation and Chromosomal fragile site.
Jean-Louis Mandel mostly deals with Genetics, Mutation, Gene, Genetic heterogeneity and Missense mutation. His study in Bardet–Biedl syndrome, Intellectual disability, BBS1, Molecular genetics and Phenotype is carried out as part of his studies in Genetics. The various areas that Jean-Louis Mandel examines in his Mutation study include Hypotonia, Molecular biology, Bioinformatics and Dynamin.
His Gene research integrates issues from Genetic counseling and Computational biology. His Missense mutation research integrates issues from Neurodevelopmental disorder, Disease gene identification and Cellular localization. His study looks at the relationship between Indel and fields such as Diabetes mellitus, as well as how they intersect with chemical problems.
Jean-Louis Mandel spends much of his time researching Genetics, Gene, Genetic heterogeneity, Intellectual disability and BBS1. In most of his Genetics studies, his work intersects topics such as Congenital myopathy. His work in Gene covers topics such as Genetic counseling which are related to areas like Diabetes mellitus genetics, Diabetes mellitus, Sanger sequencing, Computational biology and Locus.
His biological study spans a wide range of topics, including Autism and FMR1. The concepts of his BBS1 study are interwoven with issues in Molecular genetics, Joubert syndrome, Alström syndrome and Genetic testing. His Exome sequencing research is multidisciplinary, relying on both X-linked intellectual disability, Gene panel and X chromosome.
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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Victoria Campuzano;Laura Montermini;Maria Dolores Moltò;Luigi Pianese.
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
Oberlé I;Rousseau F;Heitz D;Kretz C.
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Jean Mosser;Anne-Marie Douar;Claude-Olivier Sarde;Petra Kioschis.
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
Alexandra Dürr;Mireille Cossee;Yves Agid;Victoria Campuzano.
The New England Journal of Medicine (1996)
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
Georges Imbert;Frédéric Saudou;Frédéric Saudou;Gaël Yvert;Gaël Yvert;Didier Devys;Didier Devys.
Nature Genetics (1996)
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
H.L Paulson;M.K Perez;Y Trottier;J.Q Trojanowski.
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
Gilles David;Nacer Abbas;Giovanni Stevanin;Alexandra Dürr.
Nature Genetics (1997)
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.
Didier Devys;Yves Lutz;Nicolas Rouyer;Jean-Pierre Bellocq.
Nature Genetics (1993)
Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes
Victoria Campuzano;Laura Montermini;Yves Lutz;Lidia Cova.
Human Molecular Genetics (1997)
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
Yvon Trottier;Yves Lutz;Giovanni Stevanin;Georges Imbert.
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