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Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Johnson K, Topf A, Bertoli M, et al. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis. 2017;12(1):173. doi:10.1186/s13023-017-0722-1

Limb girdle muscular dystrophy due to mutations in .

Østergaard ST, Johnson K, Stojkovic T, et al. Limb girdle muscular dystrophy due to mutations in . J Neurol Neurosurg Psychiatry. 2018;89(5):506-512. doi:10.1136/jnnp-2017-317018

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.

Strang-Karlsson S, Johnson K, Topf A, et al. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. Neuromuscul Disord. 2018;28(7):614-618. doi:10.1016/j.nmd.2018.04.012

Targeting a Braf/Mapk pathway rescues podocyte lipid peroxidation in CoQ-deficiency kidney disease.

Sidhom EH, Kim C, Kost-Alimova M, et al. Targeting a Braf/Mapk pathway rescues podocyte lipid peroxidation in CoQ-deficiency kidney disease. J Clin Invest. 2021;131(5). doi:10.1172/JCI141380