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Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
Metodiev, Metodi Dimitrov; Gerber, Sylvie; Hubert, Laurence; Delahodde, Agnès; Chretien, Dominique; Gérard, Xavier; Amati-Bonneau, Patrizia; Giacomotto, Marie-Christine; Boddaert, Nathalie; Kaminska, Anna; Desguerre, Isabelle; Amiel, Jeanne; Rio, Marlène; Kaplan, Josseline; Munnich, Arnold; Rötig, Agnès; Rozet, Jean Michel; Besmond, Claude.
Afiliación
  • Metodiev MD; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.
  • Gerber S; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.
  • Hubert L; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.
  • Delahodde A; Institut de Génétique et Microbiologie UMR 8621, Université Paris-Sud, Orsay, France.
  • Chretien D; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.
  • Gérard X; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.
  • Amati-Bonneau P; Département de Biochimie et Génétique, CHU d'Angers, Angers, France.
  • Giacomotto MC; Service d'Ophtalmologie, Polyclinique du Maine, Laval, France.
  • Boddaert N; Departments of Pediatrics, Radiology and Genetics, Hôpital Necker-Enfants Malades, Paris, France.
  • Kaminska A; Departments of Pediatrics, Radiology and Genetics, Hôpital Necker-Enfants Malades, Paris, France.
  • Desguerre I; Departments of Pediatrics, Radiology and Genetics, Hôpital Necker-Enfants Malades, Paris, France.
  • Amiel J; Departments of Pediatrics, Radiology and Genetics, Hôpital Necker-Enfants Malades, Paris, France.
  • Rio M; Departments of Pediatrics, Radiology and Genetics, Hôpital Necker-Enfants Malades, Paris, France.
  • Kaplan J; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.
  • Munnich A; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France Departments of Pediatrics, Radiology and Genetics, Hôpital Necker-Enfants Malades, Paris, France.
  • Rötig A; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.
  • Rozet JM; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.
  • Besmond C; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.
J Med Genet ; 51(12): 834-8, 2014 Dec.
Article en En | MEDLINE | ID: mdl-25351951
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aconitato Hidratasa / Enfermedades del Nervio Óptico / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2014 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aconitato Hidratasa / Enfermedades del Nervio Óptico / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2014 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido