Journal article

Biallelic variants in LARS2 and KARS cause deafness and ovario leukodystrophy

Marjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, Lisa G Riley, Desiree EC Smith, Joelle Rudinger-Thirion, Magali Frugier, Marjolein Breur, Joanna Crawford, Judith van Gaalen, Meyke Schouten, Marjolaine Willems, Quinten Waisfisz, Frederic Tran Mau-Them, Richard J Rodenburg, Ryan J Taft, Boris Keren, John Christodoulou, Christel Depienne, Cas Simons Show all

Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2019


Awarded by Australian National Health and Medical Research Council

Awarded by ZonMw grant

Funding Acknowledgements

This study was in part financed by the Australian National Health and Medical Research Council (NHMRC 1068278), the Victorian Government's Operational Infrastructure Support Program, and the ZonMw grant 40-00812-98-11005. The Genotype-Tissue Expression (GTEx) Project was supported by the Common Fund of the Office of the Director of the NIH, and by NCI, NHGRI, NHLBI, NIDA, NIMH, and NINDS.