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Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy

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Year: 2014
Type: article
Study design: Observational Study
Source: Neurogenetics
DOI: 10.1007/s10048-014-0421-1
Authors: Senda Ajroud-Driss, Faisal Fecto, Kaouther Ajroud, Irfan Lalani, Sarah E. Calvo, Vamsi K. Mootha, Han-Xiang Deng, Nailah Siddique, Albert J. Tahmoush, Terry D. Heiman-Patterson, Teepu Siddique
Institutions: Northwestern University, Broad Institute, Howard Hughes Medical Institute, Harvard University, Massachusetts General Hospital, Thomas Jefferson University
Language: English

Topic: Mitochondrial Function and Pathology
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: green

Funders: Link Foundation, University of California, Santa Cruz, Northwestern University, National Institutes of Health, Robert H. Lurie Comprehensive Cancer Center, National Cancer Institute, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke
Awards: Human Mitochondrial Disease: From Novel Gene Variants to Causality and Function, Genetics of ALS, The Robert H. Lurie Comprehensive Cancer Center
OpenAlex ID: W2004010072
FWCI: 4.186
Cites: 26
Cited by: 115
Related to: 10
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