Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia-Reference-Cited by-同舟云学术

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

Published:2019-06-05 Issue:8 Volume:64 Page:803-813
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Dafsari Hormos Salimi,Sprute Rosanne,Wunderlich Gilbert,Daimagüler Hülya-Sevcan,Karaca Ezgi^ORCID,Contreras Adriana,Becker Kerstin,Schulze-Rhonhof Mira,Kiening Karl,Karakulak Tülay,Kloss Manja,Horn Annette,Pauls Amande,Nürnberg Peter,Altmüller Janine,Thiele Holger,Assmann Birgit,Koy Anne,Cirak Sebahattin

Funder

Deutsche Forschungsgemeinschaft

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0625-1.pdf

Reference50 articles.

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2. Koy A, Cirak S, Gonzalez V, Becker K, Roujeau T, Milesi C, et al. Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia. J Neurol Sci. 2018;391:31–39.

3. Kupsch A, Benecke R, Müller J, Trottenberg T, Schneider G-H, Poewe W, et al. Pallidal deep-brain stimulation in primary generalized or segmental dystonia. New Engl J Med. 2006;355:1978–90.