Associated Papers
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
37964426 (PubMed )
Supplement: MDS-39-141-s002.docx
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Long-term follow-up of an individual with ITPR1-related disorder.
Cappuccio G et al.
American Journal of Medical Genetics. Part A, 2020
Ca2+ signaling and spinocerebellar ataxia.
Hisatsune C et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
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