Spinocerebellar Ataxia Type 15 Latest Advances

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.

Journal: Journal of the peripheral nervous system : JPNS

Published: August 30, 2025

Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: December 02, 2024

ITPR1: The missing gene in miosis-ataxia syndrome?

Journal: American journal of medical genetics. Part A

Published: January 24, 2024

Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.

Journal: Prenatal diagnosis

Published: July 19, 2023

Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.

Journal: European journal of neurology

Published: November 17, 2022

Evaluation of the Antimicrobial Capacity of Bacteria Isolated from Stingless Bee (Scaptotrigona aff. postica) Honey Cultivated in Açai (Euterpe oleracea) Monoculture.

Journal: Antibiotics (Basel, Switzerland)

Published: November 07, 2022

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Journal: Neurology. Genetics

Published: June 06, 2022

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.

Journal: International journal of molecular sciences

Published: May 06, 2022

Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.

Journal: Cerebellum (London, England)

Published: December 03, 2017

Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.

Journal: Neurologia i neurochirurgia polska

Published: January 06, 2017

Spinocerebellar ataxia 15: A phenotypic review and expansion.

Journal: Neurologia i neurochirurgia polska

Published: September 19, 2016

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

Journal: European journal of human genetics : EJHG

Published: August 31, 2016

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ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.

Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature.

Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature.

ITPR1: The missing gene in miosis-ataxia syndrome?

ITPR1: The missing gene in miosis-ataxia syndrome?

Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.

Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.

Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.

Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.

Evaluation of the Antimicrobial Capacity of Bacteria Isolated from Stingless Bee (Scaptotrigona aff. postica) Honey Cultivated in Açai (Euterpe oleracea) Monoculture.

Evaluation of the Antimicrobial Capacity of Bacteria Isolated from Stingless Bee (Scaptotrigona aff. postica) Honey Cultivated in Açai (Euterpe oleracea) Monoculture.

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.

Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.

Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.

Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.

Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.

Spinocerebellar ataxia 15: A phenotypic review and expansion.

Spinocerebellar ataxia 15: A phenotypic review and expansion.

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.