Singular DYT6 phenotypes in association with new THAP1 frameshift mutations-Reference-Cited by-同舟云学术

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

Published:2011-04-25 Issue:9 Volume:26 Page:1775-1776
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov. Disord.

Author:

Blanchard Arnaud,Roubertie Agathe,Simonetta-Moreau Marion,Ea Vuthy,Coquart Coline,Frederic Melissa Y.,Gallouedec Gael,Adenis Jean-Paul,Benatru Isabelle,Borg Michel,Burbaud Pierre,Calvas Patrick,Cif Laura,Damier Philippe,Destee Alain,Faivre Laurence,Guyant-Marechal Lucie,Janik Piotr,Janoura Samer,Kreisler Alexandre,Lusakowska Anna,Odent Sylvie,Potulska-Chromik Anna,Rudzińska Monika,Thobois Stephane,Vuillaume Isabelle,Tranchant Christine,Tuffery-Giraud Sylvie,Coubes Philippe,Sablonnière Bernard,Claustres Mireille,Collod-Béroud Gwenaelle

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.23641/fullpdf

Reference8 articles.

1. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia;Fuchs;Nat Genet,2009

2. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study;Bressman;Lancet Neurol,2009

3. The entity of young onset primary cervical dystonia;Koukouni;Mov Disord,2007

4. Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia;Paisan-Ruiz;Mov Disord,2009

5. Mutation screening of the DYT6/THAP1 gene in Italy;Bonetti;Mov Disord,2009

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2. Diverse Mechanisms Lead to Common Dysfunction of Striatal Cholinergic Interneurons in Distinct Genetic Mouse Models of Dystonia;The Journal of Neuroscience;2019-07-18

3. Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation;Journal of the Neurological Sciences;2018-05

4. Diagnosis and Treatment of Laryngeal Dystonia: Past, Present and Future Directions;TREMOR OTHER HYPERK;2016

5. Inherited Isolated Dystonia: Clinical Genetics and Gene Function;Neurotherapeutics;2014-08-26