HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype-Reference-Cited by-同舟云学术

HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype

Published:2018-08 Issue:8 Volume:33 Page:1354-1358
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Atasu Burcu¹²,Hanagasi Hasmet³,Bilgic Basar³,Pak Meltem³,Erginel-Unaltuna Nihan⁴,Hauser Ann-Kathrin¹²,Guven Gamze⁴,Simón-Sánchez Javier¹²,Heutink Peter¹²,Gasser Thomas¹²,Lohmann Ebba¹²³

Affiliation:

1. German Center for Neurodegenerative Diseases (DZNE)-Tübingen; Tübingen Germany

2. Hertie Institute for Clinical Brain Research; University of Tübingen; Tübingen Germany

3. Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine; Istanbul University; Istanbul Turkey

4. Aziz Sancar Institute for Experimental Medicine, Genetics Department; Istanbul University; Istanbul Turkey

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.27442/fullpdf

Reference9 articles.

1. Mutations in HPCA cause autosomal-recessive primary isolated dystonia;Charlesworth;Am J Hum Genet,2015

2. HPCA-related dystonia: too rare to be found?;Dobričić;Mov Disord,2016

3. DYT2 screening in early-onset isolated dystonia;Carecchio;Eur J Paediatr Neurol,2017

4. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment;Whyte;Nat Rev Endocrinol,2016

5. Sweeney WE Avner ED Polycystic kidney disease, autosomal recessive Adam MP Ardinger HH Pagon RA Seattle, WA University of Washington, Seattle 1993 2018

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