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PONTOCEREBELLAR HYPOPLASIA, TYPE 2D

Known as: CEREBELLO-CEREBRAL ATROPHY, PROGRESSIVE, CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE, PCCA 
National Institutes of Health

Related topics

Related topics

10 relations
Abnormality of the periventricular white matterAutosomal recessive inheritanceClonusContracture

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
The prognostic role of lymphovascular invasion and lymph node metastasis in perihilar and intrahepatic cholangiocarcinoma.
Review
2017
Review
2017
Current Management of Perihilar Cholangiocarcinoma and Future Perspectives.
Perihilar cholangiocarcinoma is the most common type of biliary tract cancer and is associated with a high mortality, usually due… 
2016
2016
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
2012
2012
Mutation analysis in 54 propionic acidemia patients
Deficiency of propionyl CoA carboxylase (PCC), a dodecamer of alpha and beta subunits, causes inherited propionic acidemia. We… 
Highly Cited
2010
Highly Cited
2010
Cerebellocerebral Diaschisis Is the Likely Mechanism of Postsurgical Posterior Fossa Syndrome in Pediatric Patients with Midline Cerebellar Tumors
BACKGROUND AND PURPOSE: PFS occurs in approximately 25% of pediatric patients receiving surgery for midline posterior fossa… 
Review
2008
Review
2008
The contribution of the cerebellum to speech production and speech perception: Clinical and functional imaging data
A classical tenet of clinical neurology proposes that cerebellar disorders may give rise to speech motor disorders (ataxic… 
2008
2008
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.
Highly Cited
2007
Highly Cited
2007
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
We describe the use of antisense morpholino oligonucleotides (AMOs) to restore normal splicing caused by intronic molecular… 
Highly Cited
2000
Highly Cited
2000
Potential relationship between genotype and clinical outcome in propionic acidaemia patients
Propionic acidaemia (PA) is an autosomal recessive disorder caused by mutations in either of the PCCA or PCCB genes which encode… 
Highly Cited
1999
Highly Cited
1999
Ligand Influences on Copper Cyanide Solid-State Architecture: Flattened and Fused "Slinky", Corrugated Sheet, and Ribbon Motifs in the Copper-Cyanide-Triazolate-Organoamine Family.
A series of novel composite inorganic-organic materials from the copper-cyanide-triazolate-organoamine system have been isolated… 
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