PTRHD1(C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism-Reference-Cited by-同舟云学术

PTRHD1(C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism

Published:2016-10-18 Issue:2 Volume:32 Page:287-291
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Khodadadi Hamidreza¹,Azcona Luis J.²³,Aghamollaii Vajiheh⁴,Omrani Mir Davood¹,Garshasbi Masoud⁵,Taghavi Shaghayegh¹,Tafakhori Abbas⁶,Shahidi Gholam Ali⁷,Jamshidi Javad⁸,Darvish Hossein¹,Paisán-Ruiz Coro³⁹¹⁰¹¹¹²

Affiliation:

1. Department of Medical Genetics, School of Medicine; Shahid Beheshti University of Medical Sciences; Tehran Iran

2. Department of Neurosciences; Icahn School of Medicine at Mount Sinai; New York New York USA

3. Department of Neurology; Icahn School of Medicine at Mount Sinai; New York New York USA

4. Department of Neurology, Roozbeh Psychiatry Hospital; Tehran University of Medical Sciences; Tehran Iran

5. Department of Medical Genetics, Faculty of Medical Sciences; Tarbiat Modares University; Tehran Iran

6. Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research; Tehran University of Medical Sciences; Tehran Iran

7. Movement Disorders Clinic, Hazrat Rassol Hospital; Iran University of Medical Sciences; Tehran Iran

8. Noncommunicable Diseases Research Center; Fasa University of Medical Sciences; Fasa Iran

9. Department of Psychiatry; Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place; New York New York USA

10. Department of Genetics and Genomic sciences; Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place; New York New York USA

11. Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place; New York New York USA

12. Friedman Brain Institute, Icahn School of Medicine at Mount Sinai; New York New York USA

Funder

Shahid Beheshti University of Medical Sciences and the National Institute of Neurological Disorders and Stroke of the National Institutes of Health

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.26824/fullpdf

Reference33 articles.

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3. The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures;Krebs;Hum Mutat,2013

4. Characterization of PLA2G6 as a locus for dystonia-parkinsonism;Paisan-Ruiz;Ann Neurol,2009

5. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism;Edvardson;PLoS One,2012

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