Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Gert C. Scheper(Amsterdam UMC Location VUmc), Thom van der Klok(Vrije Universiteit Amsterdam), Rob J. van Andel(Amsterdam UMC Location VUmc), Carola G.M. van Berkel(Vrije Universiteit Amsterdam), Marie Sissler(Centre National de la Recherche Scientifique), Joél Smet(Ghent University Hospital), Tatjana I Muravina(Burdenko Neurosurgery Institute), S V Serkov(Burdenko Neurosurgery Institute), Graziella Uziel(Fondazione IRCCS Istituto Neurologico Carlo Besta), Marianna Bugiani(Fondazione IRCCS Istituto Neurologico Carlo Besta), Raphael Schiffmann(National Institute of Neurological Disorders and Stroke), Ingeborg Krägeloh‐Mann(University Children's Hospital Tübingen), Jan Smeıtınk(Radboud University Medical Center), Catherine Florentz(Centre National de la Recherche Scientifique), Rudy Van Coster(Ghent University Hospital), Jan C. Pronk(Amsterdam UMC Location VUmc), Marjo S. van der Knaap(Vrije Universiteit Amsterdam)
Nature Genetics
March 25, 2007
Cited by 452

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