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

SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2021

Woo Kyung Ah, Yoo Dallah, Lee Jee-Young, Kim Man Jin, Seong Moon-Woo, Park Sung Sup, Jeon Beomseok

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 Aged
Share to Dyskinesias
Share to Mutation
Share to Sodium-Phosphate Cotransporter Proteins, Type III

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33452934
DOI: 10.1007/s10072-020-04976-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia.PMID 33452934Read ↗

A novel SLC20A2 mutation presenting with paroxysmal kinesigenic dyskinesia and epilepsy in a Chinese patient: a case report.Semantic proximity Read ↗

Late onset oculopharyngeal muscular dystrophy with prominent neurogenic features and short GCG trinucleotide expansion.Semantic proximity Read ↗

A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'.Semantic proximity Read ↗

Expanding the phenotype associated with biallelic SLC20A2 variants.Semantic proximity Read ↗

Novel SLC20A2 mutation in primary familial brain calcification with disturbance of sustained phonation and orofacial apraxia.Semantic proximity Read ↗

PharmGKB submission update: V. PMT submissions of genetic variation in SLC22 family transporters.Semantic proximity Read ↗

Familial IBGC caused by SLC20A2 mutation presenting as paroxysmal kinesigenic dyskinesia.Semantic proximity Read ↗

Novel mutation of SLC20A2 in an Italian patient presenting with migraine.Semantic proximity Read ↗

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.Semantic proximity Read ↗

BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene.Semantic proximity Read ↗

Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1.Semantic proximity Read ↗

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesiaSemantic proximity Read ↗

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