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

<i>GRID2</i> mutations span from congenital to mild adult-onset cerebellar ataxia

4 Apr 2015

Abstract excerpt

OBJECTIVES: In a large family of Algerian origin, we aimed to identify the genetic mutation segregating with simultaneous presence of adult-onset, paucisymptomatic, slowly progressive, cerebellar ataxia in 7 adults and congenital ataxia in 1 child, and then to assess the involvement of GRID2 mutations in 144 patients with congenital cerebellar ataxia. METHODS: We used a combined approach of linkage analysis and...

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 Genetic Neurodegenerative Diseases
Share to Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25841024
DOI: 10.1212/wnl.0000000000001524

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

<i>GRID2</i> mutations span from congenital to mild adult-onset cerebellar ataxiaPMID 25841024Read ↗

A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.Semantic proximity Read ↗

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical featuresSemantic proximity Read ↗

De novo partial deletion in GRID2 presenting with complicated spastic paraplegiaSemantic proximity Read ↗

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.Semantic proximity Read ↗

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humansSemantic proximity Read ↗

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.Semantic proximity Read ↗

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.Semantic proximity Read ↗

Inherited ataxias.Semantic proximity Read ↗

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.Semantic proximity Read ↗

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletionSemantic proximity Read ↗

Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.Semantic proximity Read ↗

OVERWHELMING GENETIC HETEROGENEITY AND EXHAUSTING MOLECULAR DIAGNOSTIC PROCESS IN CHRONIC AND PROGRESSIVE ATAXIAS: <i>FACING IT UP WITH AN ALGORITHM, A GENE, A PANEL AT A TIME</i>Semantic proximity Read ↗

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