Associated Papers
Ultrarare Muscular Dystrophy Mimics Facioscapulohumeral Muscular Dystrophy.
Gardner BJ et al.
Pediatric Neurology, 2024
GGPS1-associated muscular dystrophy with and without hearing loss.
Kaiyrzhanov R et al.
Annals of Clinical and Translational Neurology, 2022
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker EJ et al.
Human Genetics, 2020
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Foley AR et al.
Annals of Neurology, 2020
Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.
Bouska A et al.
Leukemia, 2017
27389057 (PubMed )
Supplement: NIHMS790817-supplement-6.xlsx › Sheet1
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