Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

(2013) Sarah L. Sawyer et al.   HUMAN MUTATION

Type 1 Inositol Trisphosphate Receptor Regulates Cerebellar Circuits by Maintaining the Spine Morphology of Purkinje Cells in Adult Mice

(2013) T. Sugawara et al.   JOURNAL OF NEUROSCIENCE

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

(2013) Chihiro Ohba et al.   NEUROGENETICS

Prevalence of ataxia in children: A systematic review

(2013) K. E. Musselman et al.   NEUROLOGY

Diagnostic Approach to Childhood-Onset Cerebellar Atrophy

(2012) Almundher Al-Maawali et al.   JOURNAL OF CHILD NEUROLOGY

Childhood Cerebellar Ataxia

(2012) Brent L. Fogel   JOURNAL OF CHILD NEUROLOGY

Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage

(2012) Masato Obayashi et al.   JOURNAL OF HUMAN GENETICS

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

(2012) Lijia Huang et al.   Orphanet Journal of Rare Diseases

SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

(2011) Cecilia Marelli et al.   ARCHIVES OF NEUROLOGY

Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family

(2011) Haruka Yamazaki et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline

(2011) A. Castrioto et al.   EUROPEAN JOURNAL OF NEUROLOGY

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

(2011) M. Synofzik et al.   JOURNAL OF MEDICAL GENETICS

Two Italian Families with ITPR1 Gene Deletion Presenting a Broader Phenotype of SCA15

(2010) Eleonora Di Gregorio et al.   CEREBELLUM

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

(2010) Marianne J.U. Novak et al.   MOVEMENT DISORDERS

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

(2010) Joyce van de Leemput et al.   MOVEMENT DISORDERS

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

(2008) K. Hara et al.   NEUROLOGY