SPINOCEREBELLAR ATAXIA 29

Known as: CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT, Aplasia of cerebellar vermis, Cerebellar vermis aplasia 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1989-2018
012319892018

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Mutations in the inositol 1,4,5-triphosphate receptor type 1 gene (ITPR1) lead to SCA15, SCA16, and SCA29. To date, only a few… (More)
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2017
2017
We report three affected members, a mother and her two children, of a non-consanguineous Irish family who presented with a… (More)
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2017
2017
Spinocerebellar ataxias (SCA) comprise a heterogeneous group of inherited neurological disorders characterized by a range of… (More)
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Review
2016
Review
2016
Modulation of the intracellular calcium concentration is a ubiquitous signaling system involved in the control of numerous… (More)
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2015
2015
Mutations in the inositol 1,4,5-triphosphate receptor type 1 gene (ITPR1) have been identified in families with early-onset… (More)
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2015
2015
IMPORTANCE Tenofovir disoproxil fumarate (TDF) use has been associated with declines in the estimated glomerular filtration rate… (More)
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2014
2014
Cerebellar patients have been found to show deficits in visual motion discrimination, suggesting that the cerebellum may play a… (More)
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2014
2014
Nephronophthisis (NPHP) is the major cause of pediatric renal failure, yet the disease remains poorly understood, partly due to… (More)
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2008
2008
Joubert syndrome and related disorders are autosomal recessive multisystem diseases characterized by cerebellar vermis aplasia… (More)
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Highly Cited
2006
Highly Cited
2006
The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in children and young adults, and its… (More)
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