Associated Papers
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L et al.
Annals of Neurology, 2025
39749750 (PubMed )
Supplement: ANA-97-561-s001.docx
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Hicks D et al.
Brain : a Journal of Neurology, 2011
Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.
Strunnikova NV et al.
Plos One, 2009
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