Related references
Note: Only part of the references are listed.A De Novo Missense Mutation in the Inositol 1,4, 5-Triphosphate Receptor Type 1 Gene Causing Severe Pontine and Cerebellar Hypoplasia: Expanding the Phenotype of ITPR1-Related Spinocerebellar Ataxia's
Tessa van Dijk et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia
S. Barresi et al.
CLINICAL GENETICS (2017)
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
Meriel McEntagart et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
Sylvie Gerber et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias
Masayoshi Tada et al.
NEUROCHEMISTRY INTERNATIONAL (2016)
De novo point mutations in patients diagnosed with ataxic cerebral palsy
Ricardo Parolin Schnekenberg et al.
BRAIN (2015)
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene
Masayuki Sasaki et al.
JOURNAL OF NEUROLOGY (2015)
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Claudia Gonzaga-Jauregui et al.
CELL REPORTS (2015)
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
Kelly D. Farwell et al.
GENETICS IN MEDICINE (2015)
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia
Sarah L. Sawyer et al.
HUMAN MUTATION (2014)
Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia
Brent L. Fogel et al.
JAMA NEUROLOGY (2014)
Clinical Neurogenetics Autosomal Dominant Spinocerebellar Ataxia
Vikram G. Shakkottai et al.
NEUROLOGIC CLINICS (2013)
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Lijia Huang et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family
Haruka Yamazaki et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2011)
Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects
Maja Steinlin
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Development of a Multiplex Ligation-Dependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15
Devika Ganesamoorthy et al.
CLINICAL CHEMISTRY (2009)
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families
K. Hara et al.
NEUROLOGY (2008)
Cerebellar ataxia with progressive improvement
JW Tsao et al.
ARCHIVES OF NEUROLOGY (2006)
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
TE Dudding et al.
NEUROLOGY (2004)