Mutations in PTRH2 cause novel infantile‐onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness-Reference-Cited by-同舟云学术

Mutations in PTRH2 cause novel infantile‐onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

Published:2014-12 Issue:12 Volume:1 Page:1024-1035
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Hu Hao¹,Matter Michelle L.²,Issa‐Jahns Lina³⁴,Jijiwa Mayumi²,Kraemer Nadine³⁴,Musante Luciana¹,Vega Michelle²,Ninnemann Olaf³,Schindler Detlev⁵,Damatova Natalia⁵,Eirich Katharina⁵,Sifringer Marco⁶,Schrötter Sandra⁷,Eickholt Britta J.⁷,Heuvel Lambert⁸,Casamina Chanel²,Stoltenburg‐Didinger Gisela³,Ropers Hans‐Hilger¹,Wienker Thomas F.¹,Hübner Christoph⁴,Kaindl Angela M.³⁴

Affiliation:

1. Max Planck Institute for Molecular Genetics Berlin Germany

2. The University of Hawaii Cancer Center Honolulu Hawaii

3. Institute of Cell Biology and Neurobiology Charité – Universitätsmedizin Berlin Berlin Germany

4. Department of Pediatric Neurology Charité – Universitätsmedizin Berlin Berlin Germany

5. Department of Human Genetics University of Würzburg Würzburg Germany

6. Department of Anesthesiology and Intensive Care Medicine Charité – Universitätsmedizin Berlin Berlin Germany

7. Institute of Biochemistry and Cluster of Excellence Neurocure Charité – Universitätsmedizin Berlin Berlin Germany

8. Nijmegen Center for Mitochondrial Disorders Radboud University Medical Center Nijmegen The Netherlands

Funder

Berlin Institute of Health

German Academic Exchange Service

German Research Foundation

Max-Planck Society

NCRR

Robert C. Perry Fund

Sonnenfeld Stiftung

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.149

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