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

Novel Compound Heterozygous SACS Mutations in a Case with a Spasticity-Lacking Phenotype of Sacsin-Related Ataxia.

Neurology India - 1 Jan 2000

Chen You, Cen Zhidong, Zheng Xiaosheng, Chen Si, Xie Fei, Luo Wei

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Muscle Spasticity
Share to Mutation
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33642311
DOI: 10.4103/0028-3886.310115

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Compound Heterozygous SACS Mutations in a Case with a Spasticity-Lacking Phenotype of Sacsin-Related Ataxia.PMID 33642311Read ↗

Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

A phenotype without spasticity in sacsin-related ataxia.Semantic proximity Read ↗

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.Semantic proximity Read ↗

An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.Semantic proximity Read ↗

Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.Semantic proximity Read ↗

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.Semantic proximity Read ↗

Novel compound heterozygous mutations in sacsin-related ataxia.Semantic proximity Read ↗

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

Novel SACS mutation in a Belgian family with sacsin-related ataxia.Semantic proximity Read ↗

A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.Semantic proximity Read ↗

[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].Semantic proximity Read ↗

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