Associated Papers
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.
Ciaccio C et al.
Cerebellum (london, England), 2024
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Romaniello R et al.
International Journal of Molecular Sciences, 2022
Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.
Stendel C et al.
Neuropediatrics, 2019
Inositol 1,4,5-trisphosphate Receptor Mutations associated with Human Disease.
Terry LE et al.
Messenger (los Angeles, Calif. : Print), 2018
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.
Dentici ML et al.
Gene, 2017
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