Paroxysmal exercise-induced dystonia within the phenotypic spectrum ofECHS1deficiency-Reference-Cited by-同舟云学术

Paroxysmal exercise-induced dystonia within the phenotypic spectrum ofECHS1deficiency

Published:2016-04-19 Issue:7 Volume:31 Page:1041-1048
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Olgiati Simone¹,Skorvanek Matej²³,Quadri Marialuisa¹,Minneboo Michelle¹,Graafland Josja¹,Breedveld Guido J.¹,Bonte Ramon¹,Ozgur Zeliha⁴,van den Hout Mirjam C.G.N.⁴,Schoonderwoerd Kees¹,Verheijen Frans W.¹,van IJcken Wilfred F.J.⁴,Chien Hsin Fen⁵,Barbosa Egberto Reis⁵,Chang Hsiu-Chen⁶,Lai Szu-Chia⁶,Yeh Tu-Hsueh⁶,Lu Chin-Song⁶,Wu-Chou Yah-Huei⁷,Kievit Anneke J.A.¹,Han Vladimir²³,Gdovinova Zuzana²³,Jech Robert⁸,Hofstra Robert M.W.¹,Ruijter George J.G.¹,Mandemakers Wim¹,Bonifati Vincenzo¹

Affiliation:

1. Department of Clinical Genetics; Erasmus MC; Rotterdam the Netherlands

2. Department of Neurology; Safarik University; Kosice Slovakia

3. Department of Neurology; University Hospital L. Pasteur; Kosice Slovakia

4. Center for Biomics; Erasmus MC; Rotterdam the Netherlands

5. Department of Neurology; University of São Paulo; São Paulo Brazil

6. Neuroscience Research Center; Division of Movement Disorders; Department of Neurology; Chang Gung Memorial Hospital and Chang Gung University; Taoyuan Taiwan

7. Human Molecular Genetics Laboratory; Department of Medical Research; Chang Gung Memorial Hospital and Chang Gung University; Taoyuan Taiwan

8. Department of Neurology; Charles University in Prague; First Faculty of Medicine Prague Czech Republic

Funder

Stichting ParkinsonFonds (The Netherlands)

Slovak Scientific Grant Agency

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference24 articles.

1. Paroxysmal dyskinesias;Bhatia;Mov Disord,2011

2. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak;Weber;J Clin Invest,2008