His primary areas of investigation include Ataxia, Genetics, Frataxin, Autosomal recessive cerebellar ataxia and Gene. His Ataxia research includes elements of Mutation, Dystonia and Age of onset. His research investigates the link between Age of onset and topics such as Genotype that cross with problems in Internal medicine, Central nervous system disease and Endocrinology.
Many of his research projects under Genetics are closely connected to Kelch protein with Kelch protein, tying the diverse disciplines of science together. In his study, Cerebellar atrophy, Pediatrics and Aprataxin is inextricably linked to Oculomotor apraxia, which falls within the broad field of Autosomal recessive cerebellar ataxia. His Gene study combines topics from a wide range of disciplines, such as Cataracts, Protein folding, Chaperone and Myopathy.
His primary areas of study are Ataxia, Genetics, Cerebellar ataxia, Frataxin and Gene. Michel Koenig interconnects Missense mutation, Internal medicine and Pediatrics in the investigation of issues within Ataxia. Locus, Mutation, Allele, Haplotype and Point mutation are the primary areas of interest in his Genetics study.
His research in Locus tackles topics such as Genetic heterogeneity which are related to areas like Disease gene identification. His Cerebellar ataxia research is multidisciplinary, incorporating elements of Chorea, Age of onset, Movement disorders and Pathology. His research investigates the connection between Gene and topics such as Computational biology that intersect with problems in DNA sequencing.
Ataxia, Cerebellar ataxia, Genetics, Computational biology and Gene are his primary areas of study. His Ataxia research includes themes of Missense mutation and Pathology. His Cerebellar ataxia research incorporates themes from Internal medicine, Atrophy, Age of onset, Movement disorders and Pediatrics.
His Internal medicine research incorporates elements of Dystonia and Endocrinology. With his scientific publications, his incorporates both Genetics and WWOX. As a member of one scientific family, Michel Koenig mostly works in the field of Autosomal recessive cerebellar ataxia, focusing on Aprataxin and, on occasion, Polyneuropathy.
Michel Koenig spends much of his time researching Cerebellar ataxia, Ataxia, Genetics, Genetic heterogeneity and RNA splicing. Michel Koenig has researched Cerebellar ataxia in several fields, including Internal medicine, Atrophy, Pathology and Age of onset. Specifically, his work in Ataxia is concerned with the study of Autosomal recessive cerebellar ataxia.
Genetics is a component of his Genotype, Allele and Locus studies. His Genetic heterogeneity research integrates issues from Movement disorders and Copy-number variation. His studies deal with areas such as Duchenne muscular dystrophy and Alternative splicing as well as RNA splicing.
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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.
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)
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
Agnès Rötig;Pascale de Lonlay;Dominique Chretien;Françoise Foury.
Nature Genetics (1997)
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)
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
Hélène Puccio;Delphine Simon;Mireille Cossée;Paola Criqui-Filipe.
Nature Genetics (2001)
Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein
Karim Ouahchi;Makoto Arita;Herbert Kayden;Fayçal Hentati.
Nature Genetics (1995)
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
Hana Koutnikova;Victoria Campuzano;Françoise Foury;Pascal Dollé.
Nature Genetics (1997)
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
M C Moreira;S Klur;M Watanabe;A H Nemeth.
Nature Genetics (2004)
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
Maria Céu Moreira;Maria Céu Moreira;Clara Barbot;Nobutada Tachi;Naoki Kozuka.
Nature Genetics (2001)
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
Mireille Cossée;A Dürr;M. Schmitt;N Dahl.
Annals of Neurology (1999)
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