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

SLC52A2 mutations cause SCABD2 phenotype: A second report.

International journal of pediatric otorhinolaryngology - 1 Jan 2018

Babanejad Mojgan, Adeli Omid Ali, Nikzat Nooshin, Beheshtian Maryam, Azarafra Hakimeh, Sadeghnia Farnaz, Mohseni Marzieh, Najmabadi Hossein, Kahrizi Kimia

Abstract excerpt

INTRODUCTION: Autosomal recessive cerebellar ataxias (ARCAs) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. Most ARCAs are heterogeneous with respect to age at onset, severity of disease progression, and frequency of extracerebellar and systemic signs. METHODS: The phenotype of a consanguineous Iranian family was characterized using clinical testing and...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Mutation, Missense

Share to Pedigree

Share to Receptors, G-Protein-Coupled

Share to Spinocerebellar Ataxias

Source

Identifiers

PMID: 29287867
DOI: 10.1016/j.ijporl.2017.11.014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SLC52A2 mutations cause SCABD2 phenotype: A second report.PMID 29287867Read ↗

Spinocerebellar Ataxia Type 28 in a Chinese Pedigree: A Case Report and Literature ReviewSemantic proximity Read ↗

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.Semantic proximity Read ↗

Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.Semantic proximity Read ↗

A comprehensive review of spinocerebellar ataxia type 2 in Cuba.Semantic proximity Read ↗

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.Semantic proximity Read ↗

Spinocerebellar ataxia 2 in a family with different phenotypes: Two case reports.Semantic proximity Read ↗

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.Semantic proximity Read ↗

A case of a novel CACNA1G mutation from a Chinese family with SCA42: A case report and literature review.Semantic proximity Read ↗

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

A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.Semantic proximity Read ↗

BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene.Semantic proximity Read ↗

Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.Semantic proximity Read ↗

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