Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice

Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia

(2014) Conceição Bettencourt et al.   JAMA Neurology

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

(2010) Stephanie Schorge et al.   TRENDS IN NEUROSCIENCES

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

(2009) Monique Jacoby et al.   NATURE GENETICS

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

(2009) Stephanie L Bielas et al.   NATURE GENETICS

Patterned Neuroprotection in the Inpp4awbl Mutant Mouse Cerebellum Correlates with the Expression of Eaat4

(2009) Andrew J. Sachs et al.   PLoS One

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

(2008) K. Hara et al.   NEUROLOGY