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

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

22 Aug 2013

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Fetal and Pediatric Neurological Disorders
Share to RNA modifications and cancer
Share to RNA Research and Splicing

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23975261
DOI: 10.1007/s10048-013-0371-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3PMID 23975261Read ↗

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvementSemantic proximity Read ↗

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.Semantic proximity Read ↗

Exome sequencing in undiagnosed inherited and sporadic ataxias.Semantic proximity Read ↗

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.Semantic proximity Read ↗

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegiaSemantic proximity Read ↗

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.Semantic proximity Read ↗

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.Semantic proximity Read ↗

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.Semantic proximity Read ↗

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.Semantic proximity Read ↗

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.Semantic proximity Read ↗

Exome sequencing and the genetics of intellectual disability.Semantic proximity Read ↗

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.Semantic proximity Read ↗

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