Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Neurology - 28 Apr 2015

Ahmed Mustafa Y, Chioza Barry A, Rajab Anna, Schmitz-Abe Klaus, Al-Khayat Aisha, Al-Turki Saeed, Baple Emma L, Patton Michael A, Al-Memar Ali Y, Hurles Matthew E, Partlow Jennifer N, Hill R Sean, Evrony Gilad D, Servattalab Sarah, Markianos Kyriacos, Walsh Christopher A, Crosby Andrew H, Mochida Ganeshwaran H

Abstract excerpt

OBJECTIVE: To identify the genetic cause of pontocerebellar hypoplasia type III (PCH3). METHODS: We studied the original reported pedigree of PCH3 and performed genetic analysis including genome-wide single nucleotide polymorphism genotyping, linkage analysis, whole-exome sequencing, and Sanger sequencing. Human fetal brain RNA sequencing data were then analyzed for the identified candidate gene. RESULTS: The...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cerebellar Diseases
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Cytoskeletal Proteins

Share to Neuropeptides

Share to Sequence Analysis, RNA

Source

Open in PubMed Open full text

Identifiers

PMID: 25832664
DOI: 10.1212/WNL.0000000000001523
PMCID: PMC4424132

Genes

PCLO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss of PCLO function underlies pontocerebellar hypoplasia type III.PMID 25832664Read ↗

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Semantic proximity Read ↗

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.Semantic proximity Read ↗

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.Semantic proximity Read ↗

Loss of Piccolo Function in Rats Induces Cerebellar Network Dysfunction and Pontocerebellar Hypoplasia Type 3-like Phenotypes.Semantic proximity Read ↗

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.Semantic proximity Read ↗

Loss of Piccolo function in rats induces Pontocerebellar Hypoplasia type 3-like phenotypesSemantic proximity Read ↗

Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort.Semantic proximity Read ↗

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.Semantic proximity Read ↗

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.Semantic proximity Read ↗

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.Semantic proximity Read ↗

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings.Semantic proximity Read ↗

Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.