Novel compound heterozygous synaptojanin‐1 mutation causes l ‐dopa‐responsive dystonia‐parkinsonism syndrome-Reference-Cited by-同舟云学术

Novel compound heterozygous synaptojanin‐1 mutation causes l ‐dopa‐responsive dystonia‐parkinsonism syndrome

Published:2016-11-21 Issue:3 Volume:32 Page:478-480
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Rauschendorf Marc‐Alexander¹,Jost Meike²,Stock Friedrich¹,Zimmer Andreas¹,Rösler Bernd¹,Rijntjes Michel²,Piroth Tobias²,Coenen Volker Arnd³,Reinacher Peter Christoph³,Meyer Philipp T.⁴,Frings Lars⁴,Weiller Cornelius²,Fischer Judith¹,Klebe Stephan²

Affiliation:

1. Department of Human GeneticsFreiburg University Medical Center and Medical Faculty, Freiburg UniversityFreiburg Germany

2. Department of Neurology, Freiburg University Medical Center and Medical FacultyFreiburg UniversityFreiburg Germany

3. Department of Stereotactic and Functional NeurosurgeryFreiburg University Medical Center and Medical Faculty, Freiburg UniversityFreiburg Germany

4. Department of Nuclear Medicine, Freiburg University Medical Center and Medical FacultyFreiburg UniversityFreiburg Germany

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.26876

Reference6 articles.

1. The Sac1 Domain of SYNJ 1 Identified Mutated in a Family with Early‐Onset Progressive P arkinsonism with Generalized Seizures

2. Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

3. PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

4. Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism

5. Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

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