Michel Koenig

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award

Overview

Best Publications

• Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

  Victoria Campuzano;Laura Montermini;Maria Dolores Moltò;Luigi Pianese

  3342
  Citations

• Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

  M. Koenig;E.P. Hoffman;C.J. Bertelson;A.P. Monaco

  2997
  Citations

• Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

  Alexandra Dürr;Mireille Cossee;Yves Agid;Victoria Campuzano

  1266
  Citations

• Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.

  Agnès Rötig;Pascale de Lonlay;Dominique Chretien;Françoise Foury

  1168
  Citations

• Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

  Alan H. Beggs;Michel Koenig;Frederick M. Boyce;Louis M. Kunkel

  980
  Citations

• Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes

  Victoria Campuzano;Laura Montermini;Yves Lutz;Lidia Cova

  915
  Citations

• 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

  820
  Citations

• Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

  Karim Ouahchi;Makoto Arita;Herbert Kayden;Fayçal Hentati

  686
  Citations

• 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

  604
  Citations

• Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

  Hana Koutnikova;Victoria Campuzano;Françoise Foury;Pascal Dollé

  580
  Citations

• Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

  Mireille Cossée;A Dürr;M. Schmitt;N Dahl

  484
  Citations

• 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

  479
  Citations

• Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

  Chris Anne Feener;Michel Koenig;Michel Koenig;Louis M. Kunkel;Louis M. Kunkel

  478
  Citations

• The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

  Pascale Bomont;Laurent Cavalier;François Blondeau;Christiane Ben Hamida

  441
  Citations

• The autosomal recessive cerebellar ataxias.

  Mathieu Anheim;Christine Tranchant;Michel Koenig

  426
  Citations

• Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

  M Cossée;H Puccio;A Gansmuller;H Koutnikova

  416
  Citations

• Evolution of the Friedreich's Ataxia Trinucleotide Repeat Expansion: Founder Effect and Premutations

  Mireille Cossée;Michèle Schmitt;Victoria Campuzano;Laurence Reutenauer

  387
  Citations

• Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families

  Laurent Cavalier;Karim Ouahchi;Herbert J. Kayden;Stephano Di Donato

  377
  Citations

• ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

  Clotilde Lagier-Tourenne;Meriem Tazir;Luis Carlos López;Catarina M. Quinzii

  346
  Citations

• Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

  M. Anheim;B. Monga;B. Monga;M. Fleury;P. Charles

  274
  Citations