Associated Papers
Mini-review: "Hippocalcin: Molecular mechanisms and therapeutic potential in neuronal function".
Park SY
Neuroscience Letters, 2025
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.
Magrinelli F et al.
Movement Disorders Clinical Practice, 2023
Perturbed Ca2+-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia.
Osypenko DS et al.
Neurobiology of Disease, 2019
Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!
Balint B et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia.
Helassa N et al.
Human Molecular Genetics, 2017
28398555 (PubMed )
Supplement: ddx133_supp.pdf
DYT2 revealed: Hippocalcin mutations cause autosomal-recessive isolated dystonia.
Erro R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
Charlesworth G et al.
American Journal of Human Genetics, 2015
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