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

A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7.

Neurogenetics - 1 Jan 2015

Velázquez-Pérez L, Cerecedo-Zapata C M, Hernández-Hernández O, Martínez-Cruz E, Tapia-Guerrero Y S, González-Piña R, Salas-Vargas J, Rodríguez-Labrada R, Gurrola-Betancourth R, Leyva-García N, Cisneros B, Magaña J J

Abstract excerpt

Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder characterized by progressive cerebellar ataxia associated with macular degeneration. We recently described one of the largest series of patients with SCA7 that originated from a founder effect in a Mexican population, which allowed us to perform herein the first comprehensive clinical, neurophysiological, and genetic characterization...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mexico

Share to Neuropsychological Tests

Share to Severity of Illness Index

Share to Spinocerebellar Ataxias

Share to Young Adult

Source

Identifiers

PMID: 25318446
DOI: 10.1007/s10048-014-0424-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7.PMID 25318446Read ↗

Current Overview of Spinocerebellar Ataxia Type 7 in Mexican Population: Challenges in Specialized Care for a Rare Disease.Semantic proximity Read ↗

Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect.Semantic proximity Read ↗

[Spinocerebellar ataxia type 7: clinical and molecular genetic analysis of a Mexican family].Semantic proximity Read ↗

Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population.Semantic proximity Read ↗

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype - Phenotype Analysis.Semantic proximity Read ↗

Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population.Semantic proximity Read ↗

Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias.Semantic proximity Read ↗

Spinocerebellar ataxia 7 (SCA7).Semantic proximity Read ↗

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype–Phenotype AnalysisSemantic proximity Read ↗

Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.Semantic proximity Read ↗

Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.Semantic proximity Read ↗

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.Semantic proximity Read ↗

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