Mitochondrial disorders

Latest Articles

Article
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
Chong Sun, Jie Song, Yanjun Jiang, et al.

Neurology Genetics April 19, 2019
Article
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
Alejandro Horga, Enrico Bugiardini, Andreea Manole, et al.

Neurology Genetics April 01, 2019
Article
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
Marjo S. van der Knaap, Marianna Bugiani, Marisa I. Mendes, et al.

Neurology February 08, 2019
Clinical/Scientific Notes
Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, et al.

Neurology Genetics March 06, 2019