Skip to search formSkip to main contentSkip to account menu

Pontoneocerebellar hypoplasia

Known as: Pontocerebellar hypoplasia 
National Institutes of Health

Related topics

Related topics

7 relations
Congenital pontocerebellar hypoplasiaMicrocephalyPONTOCEREBELLAR HYPOPLASIA, TYPE 10PONTOCEREBELLAR HYPOPLASIA, TYPE 7

Broader (1)

underdevelopment

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2018
Highly Cited
2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
Highly Cited
2017
Highly Cited
2017
Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria
SCL25A46 is a mitochondrial carrier protein that localizes to the outer membrane. Mutation L341P causes rapid degradation of… 
Highly Cited
2014
Highly Cited
2014
Cerebellar hypoplasia: Differential diagnosis and diagnostic approach
Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non‐specific neuroimaging finding… 
Highly Cited
2011
Highly Cited
2011
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common… 
Highly Cited
2011
Highly Cited
2011
Clinical neuroimaging features and outcome in molybdenum cofactor deficiency.
Highly Cited
2010
Highly Cited
2010
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Mutations in the TUBB3 gene, encoding β-tubulin isotype III, were recently shown to be associated with various neurological… 
Highly Cited
2010
Highly Cited
2010
Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features
Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these… 
Review
2008
Review
2008
Pontine Tegmental Cap Dysplasia: MR Imaging and Diffusion Tensor Imaging Features of Impaired Axonal Navigation
BACKGROUND AND PURPOSE: Malformations of the brain stem are uncommon. We present MR imaging and diffusion tensor imaging (DTI… 
Highly Cited
1999
Highly Cited
1999
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging
Review
1997
Review
1997
Genetic disorders and cerebellar structural abnormalities in childhood.
Amongst 78 patients with either unilateral or bilateral (ponto-) cerebellar hypoplasia, atrophy or lesions on neuro-imaging (CT… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)