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 new form of hereditary ataxia: X-linked congenital cerebellar hypoplasia (a clinical and molecular genetic analysis)].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 1997

Illarioshkin S N, Ivanova-Smolenskaia I A, Markova E D, Nikol'skaia N N, Tsudzi S

Abstract excerpt

There was performed the examination of a family with innate cerebellar hypoplasia. The disease was manifested in 7 males from 3 generations. X-linked recessive type of transmission of mutant gene was established. Clinical syndrome was characterized by delay of motor development during the first year of child's living as well as by ataxia, dysarthria, external ophthalmoplegia and nonprogressive course too. The...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Alleles

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

Share to Chromosome Mapping

Share to Genetic Linkage

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 9424342

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 new form of hereditary ataxia: X-linked congenital cerebellar hypoplasia (a clinical and molecular genetic analysis)].PMID 9424342Read ↗

X-linked congenital ataxia: a clinical and genetic study.Semantic proximity Read ↗

X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq.Semantic proximity Read ↗

[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology].Semantic proximity Read ↗

[Molecular analysis of hereditary nervous system diseases].Semantic proximity Read ↗

X-linked congenital ataxia: a new locus maps to Xq25-q27.1.Semantic proximity Read ↗

New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families.Semantic proximity Read ↗

Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings.Semantic proximity Read ↗

[Late onset Friedreich ataxia: clinical description of a family in Argentina].Semantic proximity Read ↗

[Autosomal recessive cerebellar ataxias].Semantic proximity Read ↗

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].Semantic proximity Read ↗

[Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic].Semantic proximity Read ↗

Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1.Semantic proximity Read ↗

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