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Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza-Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia
- Haukeland University Hospital
- University of Bergen
- University of Helsinki
- UCL Institute of Child Health
- Great Ormond Street Hospital
- Wellcome Trust Centre for Human Genetics
- University of Massachusetts Chan Medical School
- 12 de Octubre University Hospital
- Queen Silvia Children’s Hospital
- Rady Children’s Institute for Genomic Medicine
- Carlo Besta Neurological Institute, IRCCS
- University of Milan
- University College London
- Mayo Clinic Minnesota
- University Hospitals Leuven
- Karolinska University Hospital
- Karolinska Institute
- Biomedical Network on Rare Diseases (CIBERER)
- Cleveland Clinic Foundation
- Necker-Enfants Malades Hospital
- Paracelsus Private Medical University of Salzburg
- Radboud University Medical Center
- Folkhälsan Research Center
Research output: Contribution to journal › Article › peer-review