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 PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2017

Esposito Silvia, Carecchio Miryam, Tonduti Davide, Saletti Veronica, Panteghini Celeste, Chiapparini Luisa, Zorzi Giovanna, Pantaleoni Chiara, Garavaglia Barbara, Krainc Dimitri, Lubbe Steven J, Nardocci Nardo, Mencacci Niccolò E

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 Child, Preschool
Share to Chorea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Phosphoric Diester Hydrolases

Source

Identifiers

PMID: 28949041
DOI: 10.1002/mds.27175

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

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.PMID 28949041Read ↗

A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.Semantic proximity Read ↗

PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases.Semantic proximity Read ↗

Familial choreoathetosis due to novel heterozygous mutation in PDE10A.Semantic proximity Read ↗

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.Semantic proximity Read ↗

A Novel Homozygous PDE 10A Variant Leading to Infantile-Onset Hyperkinesia.Semantic proximity Read ↗

Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders.Semantic proximity Read ↗

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.Semantic proximity Read ↗

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

Chorea: An Update on Genetics.Semantic proximity Read ↗

Diagnostic Uncertainties: Chorea.Semantic proximity Read ↗

Recent advances in genetics of chorea.Semantic proximity Read ↗

Chorea in children: etiology, diagnostic approach and management.Semantic proximity Read ↗

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