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 novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Mar 2014

Saracchi Enrico, Castelli Marianna, Bassi Maria T, Brighina Erika, Cereda Diletta, Marzorati Laura, Patassini Mirko, Appollonio Ildebrando, Ferrarese Carlo, Brighina Laura

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 Atrophy
Share to Cerebellum
Share to Chorea
Share to DNA Helicases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Motor Neuron Disease

Share to Multifunctional Enzymes

Share to RNA Helicases

Share to Spinal Cord

Source

Identifiers

PMID: 24533459
DOI: 10.3109/21678421.2013.865751

Genes

SETX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease.PMID 24533459Read ↗

SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2.Semantic proximity Read ↗

Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.Semantic proximity Read ↗

A new SETX mutation producing AOA2 in two siblings.Semantic proximity Read ↗

A novel ARX loss of function variant in female monozygotic twins is associated with chorea.Semantic proximity Read ↗

An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant.Semantic proximity Read ↗

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.Semantic proximity Read ↗

New mutation leading to the full variety of typical features of the Netherton syndrome.Semantic proximity Read ↗

ADCY5 identified as a novel cause of benign hereditary chorea.Semantic proximity Read ↗

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.Semantic proximity Read ↗

Novel mutation in SPRED1: a sporadic case of Legius syndrome in an infant.Semantic proximity Read ↗

Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.Semantic proximity Read ↗

A novel variant of ARPC4-related neurodevelopmental disorder.Semantic proximity Read ↗

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