A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene-Reference-Cited by-同舟云学术

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene

Published:2016-07-12 Issue:11 Volume:31 Page:1733-1739
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Schottmann Gudrun¹,Sarpong Akosua²,Lorenz Carmen³,Weinhold Natalie⁴,Gill Esther¹,Teschner Lisa¹,Ferdinandusse Sacha⁵,Wanders Ronald J. A.⁵,Prigione Alessandro³,Schuelke Markus¹

Affiliation:

1. Department of Neuropediatrics and NeuroCure Clinical Research Center; Charité-Universitätsmedizin Berlin; Berlin Germany

2. Sozialpädiatrisches Zentrum Neuropädiatrie; Charité-Universitätsmedizin Berlin; Berlin Germany

3. Max Delbrück Center for Molecular Medicine (MDC); Berlin-Buch Germany

4. Sozialpädiatrisches Zentrum Stoffwechsel; Charité-Universitätsmedizin; Berlin German

5. Department of Clinical Chemistry and Pediatrics, Emma Children's Hospital; University of Amsterdam; Amsterdam The Netherlands

Funder

Bundesministerium für Bildung und Forschung

Berlin Institute of Health

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference19 articles.

1. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration;Loupatty;Am J Hum Genet,2007

2. Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway;Wanders;J Inherit Metab Dis,2012

3. Primary Structure and Tissue-specific Expression of Human β-Hydroxyisobutyryl-coenzyme A Hydrolase;Hawes;J Biol Chem,1996

4. Glial metabolism of valine;Murín;Neurochem Res,2009

5. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase;Ferdinandusse;Orphanet J Rare Dis,2013

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