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

Genetic Dystonias: Update on Classification and New Genetic Discoveries.

Current neurology and neuroscience reports - 9 Feb 2021

Keller Sarmiento Ignacio Juan, Mencacci Niccolò Emanuele

Abstract excerpt

PURPOSE OF REVIEW: Since the advent of next-generation sequencing, the number of genes associated with dystonia has been growing exponentially. We provide here a comprehensive review of the latest genetic discoveries in the field of dystonia and discuss how the growing knowledge of biology underlying monogenic dystonias may influence and challenge current classification systems. RECENT FINDINGS: Pathogenic...

Read the complete abstract on PubMed

Topics

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

Share to Anoctamins
Share to Carrier Proteins
Share to Dystonia

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

Share to Dystonic Disorders

Share to GTP-Binding Protein alpha Subunits, Gi-Go

Share to High-Throughput Nucleotide Sequencing

Share to Nuclear Proteins

Share to Sodium-Potassium-Exchanging ATPase

Source

Identifiers

PMID: 33564903
DOI: 10.1007/s11910-021-01095-1

Genes

ADCY5
ANO3
ATP1A3
COQ8A
DNAJC12
GNAL
GNAO1
GNB1
HPCA
KCTD17
KMT2B
RHOBTB2
SCN8A
SLC18A2
SQSTM1
VPS16
VPS41
YY1

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

Genetic Dystonias: Update on Classification and New Genetic Discoveries.PMID 33564903Read ↗

The genetics of dystonia: new twists in an old tale.Semantic proximity Read ↗

Update on the Genetics of Dystonia.Semantic proximity Read ↗

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.Semantic proximity Read ↗

Recent genetic advances in early-onset dystonia.Semantic proximity Read ↗

Monogenic variants in dystonia: an exome-wide sequencing study.Semantic proximity Read ↗

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome SequencingSemantic proximity Read ↗

Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.Semantic proximity Read ↗

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.Semantic proximity Read ↗

Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.Semantic proximity Read ↗

Dystonia: an update on phenomenology, classification, pathogenesis and treatment.Semantic proximity Read ↗

Genetics and Pathogenesis of DystoniaSemantic proximity Read ↗

Genetics of dystonia: what's known? What's new? What's next?Semantic proximity Read ↗

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