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

Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Oct 2005

Bouhlal Y, El-Euch-Fayeche G, Amouri R, Hentati F

Abstract excerpt

Autosomal recessive ataxias represent a large group of neurodegenerative disorders characterized by progressive degeneration of central and peripheral nervous systems and a genetic heterogeneity. To analyse clinical, neurophysiological and nerve biopsy findings in 14 Tunisian unrelated families showing linkage exclusion to the known autosomal recessive ataxia loci, 20 Tunisian families with a total of 73 affected...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Ataxia
Share to Chromosome Mapping

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

Share to Contracture

Share to Friedreich Ataxia

Share to Genetic Linkage

Share to Haplotypes

Share to Reflex

Share to Tendons

Source

Identifiers

PMID: 16550933

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

Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.PMID 16550933Read ↗

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.Semantic proximity Read ↗

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Semantic proximity Read ↗

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.Semantic proximity Read ↗

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.Semantic proximity Read ↗

Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.Semantic proximity Read ↗

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.Semantic proximity Read ↗

First case of Autosomal recessive spastic ataxia of Charlevoix-Saguenay in the Middle eastSemantic proximity Read ↗

[Clinical details and genetics of recessive ataxias].Semantic proximity Read ↗

Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.Semantic proximity Read ↗

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.Semantic proximity Read ↗

Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1linked to the SCA2 locusSemantic proximity Read ↗

Recessive Ataxia With Ocular ApraxiaSemantic proximity Read ↗

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