PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder)

Known as: PCH3, PCH WITH OPTIC ATROPHY, CLAM 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
OBJECTIVE To identify the genetic cause of pontocerebellar hypoplasia type III (PCH3). METHODS We studied the original reported… (More)
  • figure 1
  • figure 2
Is this relevant?
2012
2012
Inositol-1,4,5-trisphosphate receptors (InsP3Rs) and ryanodine receptors (RyRs) are tetrameric intracellular Ca2+ channels. In… (More)
Is this relevant?
2009
2009
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by abnormally small cerebellum and brainstem… (More)
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2007
Highly Cited
2007
Chemoautotrophic endosymbionts are the metabolic cornerstone of hydrothermal vent communities, providing invertebrate hosts with… (More)
  • figure 1
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Many aspects of metal accumulation in aquatic invertebrates (i.e. toxicity, tolerance and trophic transfer) can be understood by… (More)
  • figure 1
  • figure 2
  • figure 3
  • table 1
  • figure 4
Is this relevant?
2003
2003
OBJECTIVE To describe a novel form of pontocerebellar hypoplasia (PCH) and map its genetic locus. BACKGROUND PCH is a… (More)
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
1999
Highly Cited
1998
Highly Cited
1998
This study addresses the question of whether it is possible to read a word for meaning without phonological mediation. The task… (More)
  • figure 1
  • figure 2
  • table 1
  • table 2
  • table 3
Is this relevant?
Highly Cited
1983
Highly Cited
1983
The experiment reported here used the gating paradigm (Grosjean, 1980) to investigate the following issues: To test the validity… (More)
  • table 1
  • figure 1
  • table 2
  • table 4
  • table 5
Is this relevant?
Highly Cited
1977
Highly Cited
1977
We have purified a cardioexcitatory substance, previously designated peak C, from ganglia of the Sunray Venus clam, Macrocallista… (More)
Is this relevant?