Work

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Year: 2014

Type: article

Source: Journal of Medical Genetics

DOI: 10.1136/jmedgenet-2014-102532

Authors: Metodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, Agnès Delahodde, Dominique Chretien, Xavier Gérard, Patrizia Amati-Bonneau, Marie-Christine Giacomotto, Nathalie Boddaert, Anna Kaminska, Isabelle Desguerre, Jeanne Amiel, Marlène Rio, Josseline Kaplan, Arnold Munnich, Agnès Rötig, Jean Michel Rozet, Claude Besmond

Institutions: Sorbonne Paris Cité, Institut des Maladies Génétiques Imagine, Université Paris Descartes, Université Paris-Sud, Centre Hospitalier Universitaire d'Angers, Centre Ophtalmologique d'Imagerie et de Laser, Hôpital Necker-Enfants Malades

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W1981123755

FWCI: 2.291

Cites: 17

Cited by: 99

Related to: 10