Clinical presentation of a patient with SLC20A2 and THAP1 deletions: Differential diagnosis of oromandibular dystonia

Shinsuke Fujioka, Audrey J. Strongosky, Anhar Hassan, Rosa V Rademakers, Dennis W Dickson, Zbigniew K Wszolek

Research output: Contribution to journalArticle

2 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)329-331
Number of pages3
JournalParkinsonism and Related Disorders
Volume21
Issue number3
DOIs
StatePublished - Mar 1 2015

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Type III Sodium-Phosphate Cotransporter Proteins
Dystonic Disorders
Apoptosis Regulatory Proteins
Dystonia
Gene Deletion
DNA-Binding Proteins
Genetic Testing
Nuclear Proteins
Mandible
Tongue
Differential Diagnosis

Keywords

  • Basal ganglia calcification
  • Genetic testing
  • IBGC3
  • Oromandibular dystonia
  • SLC20A2
  • THAP1

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

Cite this

@article{b66d04665a9e4684a3059c67a2512280,
title = "Clinical presentation of a patient with SLC20A2 and THAP1 deletions: Differential diagnosis of oromandibular dystonia",
keywords = "Basal ganglia calcification, Genetic testing, IBGC3, Oromandibular dystonia, SLC20A2, THAP1",
author = "Shinsuke Fujioka and Strongosky, {Audrey J.} and Anhar Hassan and Rademakers, {Rosa V} and Dickson, {Dennis W} and Wszolek, {Zbigniew K}",
year = "2015",
month = "3",
day = "1",
doi = "10.1016/j.parkreldis.2014.12.024",
language = "English (US)",
volume = "21",
pages = "329--331",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
number = "3",

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T1 - Clinical presentation of a patient with SLC20A2 and THAP1 deletions

T2 - Differential diagnosis of oromandibular dystonia

AU - Fujioka, Shinsuke

AU - Strongosky, Audrey J.

AU - Hassan, Anhar

AU - Rademakers, Rosa V

AU - Dickson, Dennis W

AU - Wszolek, Zbigniew K

PY - 2015/3/1

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KW - Basal ganglia calcification

KW - Genetic testing

KW - IBGC3

KW - Oromandibular dystonia

KW - SLC20A2

KW - THAP1

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U2 - 10.1016/j.parkreldis.2014.12.024

DO - 10.1016/j.parkreldis.2014.12.024

M3 - Article

C2 - 25609077

AN - SCOPUS:84923225298

VL - 21

SP - 329

EP - 331

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1353-8020

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ER -