Clinical presentation of a patient with SLC20A2 and THAP1 deletions: Differential diagnosis of oromandibular dystonia-Reference-Cited by-同舟云学术

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

Published:2015-03 Issue:3 Volume:21 Page:329-331
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

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

Funder

NIH/NINDS

CurePSP/Society for Progressive Supranuclear Palsy

Mayo Clinic Center for Regenerative Medicine

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference6 articles.

1. Dystonia: phenomenology;LeDoux;Parkinsonism Relat Disord,2012

2. Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients;Bonazza;Neurol Sci,2011

3. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis;Wang;Nat Genet,2012

4. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia;Baker;Neurogenetics,2014

5. Autosomal dominant dystonia-plus with cerebral calcifications;Wszolek;Neurology,2006

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Brain Calcifications: Genetic, Molecular, and Clinical Aspects;International Journal of Molecular Sciences;2023-05-19

2. YY1 : A New Gene for Childhood Onset Dystonia with Prominent Oromandibular‐Laryngeal Involvement?;Movement Disorders;2021-10-07

3. Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification;Frontiers in Genetics;2021-05-07

4. Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl;Molecular Genetics & Genomic Medicine;2021-04

5. Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients;Journal of Molecular Neuroscience;2019-11-25

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