第一单位：
Dept of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
作者：
Bruce,Nmezi [1]
;
Guillermo,Rodriguez Bey [1]
;
Talia DeFrancesco,Oranburg [1]
;
Kseniia,Dudnyk [2]
;
Santana M,Lardo [3]
;
Nathan,Herdman [1]
;
Anastasia,Jacko [1]
;
Sandy,Rubio [1]
;
Emanuel,Loeza-Alcocer [4]
;
Julia,Kofler [5]
;
Dongkyeong,Kim [6]
;
Julia,Rankin [7]
;
Emma,Kivuva [7]
;
Nicholas,Gutowski [8]
;
Katherine,Schon [9]
;
Jelle,van den Ameele [10]
;
Patrick F,Chinnery [10]
;
Sérgio B,Sousa [11]
;
Filipe,Palavra [12]
;
Camilo,Toro [13]
;
Filippo,Pinto E Vairo [14]
;
Jonas,Saute [15]
;
Lisa,Pan [1]
;
Murad,Alturkustani [16]
;
Robert,Hammond [17]
;
Francois,Gros-Louis [18]
;
Michael S,Gold [4]
;
Yungki,Park [19]
;
Geneviève,Bernard [20]
;
Raili,Raininko [21]
;
Jian,Zhou [2]
;
Sarah J,Hainer [3]
;
Quasar S,Padiath [22]
作者单位：
Dept of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
[1]
Lyda Hill Department of Bioinformatics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
[2]
Dept. of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
[3]
Dept. of Neurobiology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
[4]
Dept. of Neuropathology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
[5]
Institute for Myelin and Glia Exploration, Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, USA.;Epitor Therapeutics, New York, NY, USA.
[6]
Dept. of Clinical Genetics, Royal Devon University Hospital, Exeter, UK.
[7]
Dept. of Neurology, Royal Devon University Hospital, Exeter, UK.
[8]
Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.;MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.;East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
[9]
Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.;MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
[10]
Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.;University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.;Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
[11]
Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.;Center for Child Development-Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal.;Laboratory of Pharmacology and Experimental Therapeutics, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
[12]
NIH Undiagnosed Diseases Program, National Human Genome Institute, National Institutes of Health, Bethesda, MD, USA.
[13]
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.;Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
[14]
Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.;Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
[15]
Department of Pathology, King Abdulaziz University, Jeddah, Saudi Arabia.
[16]
Departments of Pathology and Clinical Neurological Sciences, Western University and London Health Sciences Centre, Quebec City, Canada.
[17]
Department of Surgery, Faculty of Medicine, Laval University, Quebec City, QC, Canada.;Division of Regenerative Medicine, CHU de Quebec research center, Laval University, Quebec City, QC, Canada.
[18]
Institute for Myelin and Glia Exploration, Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, USA.
[19]
Department of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, QC, Canada.;Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.;Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
[20]
Department of Radiology, Uppsala University, Uppsala, Sweden.
[21]
Dept of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. qpadiath@pitt.edu.;Dept. of Neurobiology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA. qpadiath@pitt.edu.
[22]
DOI
10.1038/s41467-025-56378-9
PMID
39910058
发布时间
2025-08-27
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