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

Neurodevelopmental Gene‐Related Dystonia‐Parkinsonism with Onset in Adults: A Case with NAA15 Variant

22 Jun 2022

Abstract excerpt

Genomic sequencing and animal-model studies have begun to define a strong neurodevelopmental basis of dystonia.1 In addition, neurodevelopmental defects are also thought to represent factors contributing to the manifestation of Parkinson's disease (PD) and parkinsonian syndromes.2-4 Knowledge about single-gene disorders presenting with neurodevelopmental dystonia and/or parkinsonism is still limited, hindering...

Read the complete abstract on PubMed

Topics

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

Share to Neurogenetic and Muscular Disorders Research
Share to Neurological disorders and treatments
Share to Parkinson's Disease Mechanisms and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35730864
DOI: 10.1002/mds.29125

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

Neurodevelopmental Gene‐Related Dystonia‐Parkinsonism with Onset in Adults: A Case with NAA15 VariantPMID 35730864Read ↗

Genetic Dystonias: Update on Classification and New Genetic Discoveries.Semantic proximity Read ↗

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

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

Emerging Monogenic Complex Hyperkinetic Disorders.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 ↗

Movement disorders in 2014. Genetic advances spark a revolution in dystonia phenotyping.Semantic proximity Read ↗

Clinical neurogenetics: dystonia from phenotype to genotype.Semantic proximity Read ↗

Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable Causes.Semantic proximity Read ↗

Dystonia: from phenotypes to genetics and therapeutic advances.Semantic proximity Read ↗

Developmental, neuroanatomical and cellular expression of genes causing dystoniaSemantic proximity Read ↗

AOPEP-related autosomal recessive dystonia: update on Zech-Boesch syndromeSemantic proximity Read ↗

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