Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset-Reference-Cited by-同舟云学术

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Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset

Published:2020-05 Issue: Volume:74 Page:12-15
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Wassenberg Tessa,Schouten Meyke I.,Helmich Rick C.,Willemsen Michèl A.A.P.,Kamsteeg Erik-Jan,van de Warrenburg Bart P.C.

Funder

Netherlands Organization for Scientific Research

Dutch Brain Foundation

MJ Fox Foundation

Hersenstichting, Radboud university medical centre, uniQure

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference12 articles.

1. GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia;Furukawa,1993

2. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers;Mencacci;Brain : J. Neurol.,2014

3. Hereditary spastic paraplegia: clinical principles and genetic advances;Fink;Semin. Neurol.,2014

4. Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy;Lee;J. Kor. Med. Sci.,2011

5. GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia;Fan;J. Neurol.,2014

Cited by 10 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. Heterozygous pathogenic variant in GCH1 associated with treatable severe spastic tetraplegia: Expert opinion;Parkinsonism & Related Disorders;2023-04

2. Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia;Parkinsonism & Related Disorders;2023-04

3. Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment;neurogenetics;2022-04-09

4. Dopa-Responsive Dystonia and Related Disorders;Movement Disorder Emergencies;2021-10-03

5. Childhood-onset hereditary spastic paraplegia and its treatable mimics;Molecular Genetics and Metabolism;2021-06

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