Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy-Reference-Cited by-同舟云学术

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

Published:2019-06-18 Issue:10 Volume:40 Page:1826-1840
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Scheidecker Sophie¹²,Bär Séverine³,Stoetzel Corinne¹,Geoffroy Véronique¹,Lannes Béatrice⁴,Rinaldi Bruno³,Fischer Frédéric³,Becker Hubert D.³,Pelletier Valérie⁵,Pagan Cécile⁶,Acquaviva‐Bourdain Cécile⁶,Kremer Stéphane⁷,Mirande Marc⁸,Tranchant Christine⁹,Muller Jean¹²^ORCID,Friant Sylvie²^ORCID,Dollfus Hélène¹⁵

Affiliation:

1. Laboratoire de Génétique Médicale, INSERM U1112, Institut de Génétique Médicale d'AlsaceUniversité de Strasbourg Strasbourg France

2. Laboratoires de Diagnostic GénétiqueHôpitaux Universitaires de Strasbourg Strasbourg France

3. Laboratoire de Génétique Moléculaire, Génomique, Microbiologie (GMGM)UMR7156, Université de Strasbourg, CNRS Strasbourg France

4. Service d'Anatomo‐pathologieHôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre Strasbourg France

5. Centre de Référence pour les affections rares en génétique ophtalmologique, CARGOFilière SENSGENE, Hôpitaux Universitaires de Strasbourg Strasbourg France

6. Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie EstHospices Civils de Lyon Lyon France

7. Service de Neuroradiologie/Imagerie 2CHU de Strasbourg, Hôpital de Hautepierre Strasbourg France

8. Institute for Integrative Biology of the Cell (I2BC)CEA, CNRS, University Paris‐Sud, Université Paris‐Saclay Gif‐sur‐Yvette France

9. Service de Neurologie Hôpitaux Universitaires de StrasbourgHôpital de Hautepierre Strasbourg France

Funder

Institut National de la Santé et de la Recherche Médicale

Agence Nationale de la Recherche

Université de Strasbourg

Centre National de la Recherche Scientifique

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23799

Reference58 articles.

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