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

Sex-specific alterations of Purkinje cell firing in Sgce knockout mice and correlations with myoclonus

18 Mar 2025

Abstract excerpt

Myoclonus is a hyperkinetic movement disorder characterized by sudden, brief, involuntary jerks of single or multiple muscles. Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Myoclonus-dystonia (M-D) or DYT11 dystonia is an early-onset genetic disorder characterized by subcortical myoclonus and less...

Read the complete abstract on PubMed

Topics

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

Share to Genetics and Neurodevelopmental Disorders
Share to Neurological disorders and treatments
Share to Pancreatic function and diabetes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40557327
DOI: 10.3389/dyst.2025.14415

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sex-specific alterations of Purkinje cell firing in Sgce knockout mice and correlations with myoclonusPMID 40557327Read ↗

Acute cerebellar knockdown of Sgce reproduces salient features of myoclonus-dystonia (DYT11) in mice.Semantic proximity Read ↗

SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?Semantic proximity Read ↗

Cerebellar Dysfunction as a Source of Dystonic Phenotypes in MiceSemantic proximity Read ↗

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.Semantic proximity Read ↗

Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.Semantic proximity Read ↗

Transcriptomic disruption and functional hypoactivity in DYT- <i>SGCE</i> MGE-patterned inhibitory neuronsSemantic proximity Read ↗

Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment.Semantic proximity Read ↗

Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.Semantic proximity Read ↗

Genetic silencing of olivocerebellar synapses causes dystonia-like behaviour in miceSemantic proximity Read ↗

Distinct neuronal mechanisms for motor impairment and seizures in a novel mouse model of SCN8A epileptic encephalopathy.Semantic proximity Read ↗

Regional and genotypic differences in intrinsic electrophysiological properties of cerebellar Purkinje neurons from wild-type and dystrophin-deficient mdx mice.Semantic proximity Read ↗

[Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].Semantic proximity Read ↗

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