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

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.

Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2024

Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Pedro-Ibor Ana, Jaijo Teresa, Del Valle-Carranza Andrea, Martínez-Torres Irene, Millán Jose M, Bataller Luis, Aller Elena

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 8 (SCA8) is a dominantly inherited expansion disorder with highly variable penetrance. ATXN8OS/ATXN8 expanded alleles have been identified in association with other types of hereditary ataxias, pointing to a possible genetic synergism. OBJECTIVES: We aimed to further investigate the molecular background of patients with SCA8 diagnosis. METHODS: Patients were selected from...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Spinocerebellar Ataxias

Share to Spinocerebellar Degenerations

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 38962894
DOI: 10.1002/mds.29910

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

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.PMID 38962894Read ↗

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.Semantic proximity Read ↗

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

A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.Semantic proximity Read ↗

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.Semantic proximity Read ↗

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.Semantic proximity Read ↗

NGS in Hereditary Ataxia: When Rare Becomes Frequent.Semantic proximity Read ↗

Clinical and Functional Characterization of a Novel STUB1 Mutation in a Chinese Spinocerebellar Ataxia 48 PedigreeSemantic proximity Read ↗

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.Semantic proximity Read ↗

[Analysis of ALMS1 gene variants in seven patients with Alström syndrome].Semantic proximity Read ↗

Molecular genetic testing for hereditary ataxiaSemantic proximity Read ↗

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.Semantic proximity Read ↗

Application of a custom NGS Gene Panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.Semantic proximity Read ↗

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