Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Marjo van der Knaap; Marianna Bugiani; Marisa Mendes; Lisa Riley; Desiree E.C. Smith; Joëlle Rudinger-Thirion; Magali Frugier; Marjolein Breur; Joanna Crawford; Judith van Gaalen; Meyke Schouten; Marjolaine Willems; Quinten Waisfisz; Frederic Tran Mau-Them; Richard Rodenburg; Ryan Taft; Boris Keren; John Christodoulou; Christel Depienne; Cas Simons; Gajja Salomons; Fanny Mochel

doi:10.1212/WNL.0000000000007098

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Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

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Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Marjo van der Knaap, Marianna Bugiani, Marisa Mendes, Lisa Riley, Desiree E.C. Smith, Joëlle Rudinger-Thirion, Magali Frugier, Marjolein Breur, Joanna Crawford, Judith van Gaalen, …

Neurology, Vol.92(11)

12/03/2019

DOI: https://doi.org/10.1212/WNL.0000000000007098

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Title: Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
Creators - without role: Marjo van der Knaap - Radboud University Nijmegen
Marianna Bugiani - Radboud University Nijmegen
Marisa Mendes - Radboud University Medical Center
Lisa Riley - University of Melbourne
Desiree E.C. Smith - Cognitive Research
Joëlle Rudinger-Thirion - Radboud University Nijmegen
Magali Frugier - Radboud University Medical Center
Marjolein Breur - Radboud University Medical Center
Joanna Crawford - Radboud University Medical Center
Judith van Gaalen - Radboud University Nijmegen
Meyke Schouten - Radboud University Medical Center
Marjolaine Willems - Université de Montpellier, Institut des Neurosciences de Montpellier - INM
Quinten Waisfisz - Radboud University Medical Center
Frederic Tran Mau-Them - Radboud University Medical Center
Richard Rodenburg - University of Melbourne
Ryan Taft - Radboud University Nijmegen
Boris Keren - Radboud University Medical Center
John Christodoulou - Radboud University Medical Center
Christel Depienne - Radboud University Medical Center
Cas Simons - Radboud University Medical Center
Gajja Salomons - University of Sydney
Fanny Mochel - Radboud University Medical Center
Publication Details: Neurology, Vol.92(11)
Identifiers: 9938591209311
Academic Unit: Institut des Neurosciences de Montpellier - INM
Language: English
Resource Type: Journal article
Local Fields: hal-04943484