Pontocerebellar Hypoplasia

Pontocerebellar hypoplasias are a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. Here is the latest research on pontocerebellar hypoplasia.

September 20, 2021
Case Report

Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects.

Autopsy & Case Reports
Meghan Elizabeth KappHilary Highfield Nickols
September 6, 2021
Review

A Proposed Clinical Classification and a Diagnostic Approach for Congenital Ataxias.

Neurology. Clinical Practice
Ivana Rocha RaslanJosé Luiz Pedroso
July 18, 2021

Modeling a human CLP1 mutation in mouse identifies an accumulation of tyrosine pre-tRNA fragments causing pontocerebellar hypoplasia type 10.

Biochemical and Biophysical Research Communications
Ikuko MorisakiToshikatsu Hanada
July 14, 2021

Spasmodic Abdominal Pain and Other Gastrointestinal Symptoms in Pontocerebellar Hypoplasia Type 2.

Neuropediatrics
Wibke G JanzarikPatrick Gerner
July 12, 2021

[Analysis of genetic variant in a fetus featuring pontocerebellar hypoplasia type 6].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Xiaojing WengQiong Pan
July 10, 2021
Preprint
Open Access

Mutations in Drosophila tRNA processing factors cause phenotypes similar to Pontocerebellar Hypoplasia

BioRxiv : the Preprint Server for Biology
C. A. SchmidtA. Gregory Matera
July 6, 2021
Comment / Editorial

New VOUS in CASK Gene Correlating with the MICPCH Phenotype.

Mædica
Elena Silvia ShelbyLiisa M Pelttari
July 3, 2021

New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.

Neuromuscular Disorders : NMD
María Elena Rodríguez-GarcíaFrancisco Martínez-Azorín
June 28, 2021
Open Access

[A disruption of inositol phosphates metabolism causes pontocerebellar hypoplasia].

Médecine sciences : M/S
Ekin UcuncuVincent Cantagrel
June 25, 2021
Open Access

Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene.

Neurology. Genetics
Angela SungAziz Shaibani
June 5, 2021
Case Report

Risk of sudden cardiac death in EXOSC5-related disease.

American Journal of Medical Genetics. Part a
Daniel G CalameChristina Y Miyake
June 5, 2021

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.

Journal of Medical Genetics
Sara NuovoEnza Maria Valente
May 11, 2021
Open Access

The impact of severe rare chronic neurological disease in childhood on the quality of life of families-a study on MLD and PCH2.

Orphanet Journal of Rare Diseases
Louisa Ammann-SchnellIngeborg Krägeloh-Mann
March 24, 2021

Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Aviva Fattal-ValevskiBruria Ben Zeev
March 3, 2021

Comparative parallel analysis of RNA ends identifies mRNA substrates of a tRNA splicing endonuclease-initiated mRNA decay pathway.

Proceedings of the National Academy of Sciences of the United States of America
Jennifer E HurtigAmbro van Hoof

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