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

European journal of neurology - 1 Aug 2012

Masciullo M, Modoni A, Tessa A, Santorelli F M, Rizzo V, D'Amico G, Laschena F, Tartaglione T, Silvestri G

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 Brain
Share to Heat-Shock Proteins
Share to Italy
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Spasticity

Share to Mutation

Share to Spinocerebellar Ataxias

Source

Identifiers

PMID: 22805644
DOI: 10.1111/j.1468-1331.2012.03752.x

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.PMID 22805644Read ↗

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

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

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.Semantic proximity Read ↗

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.Semantic proximity Read ↗

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.Semantic proximity Read ↗

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

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.Semantic proximity Read ↗

Mutations in SACS cause atypical and late-onset forms of ARSACS.Semantic proximity Read ↗

Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.Semantic proximity Read ↗

Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.Semantic proximity Read ↗

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

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