Associated Papers
IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.
Hytönen MK et al.
Plos Genetics, 2025
ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.
Cabello-Murgui J et al.
European Journal of Neurology, 2024
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Rönkkö J et al.
Annals of Clinical and Translational Neurology, 2020
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
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