Literature DB >> 25382112

Novel GNAL mutations in two German patients with sporadic dystonia.

Julia Ziegan1, Matthias Wittstock, Ana Westenberger, Valerija Dobričić, Alexander Wolters, Reiner Benecke, Christine Klein, Christoph Kamm.   

Abstract

Entities:  

Keywords:  GNAL; cervical; deep brain stimulation; dystonia

Mesh：

Substances：

Year:  2014        PMID： 25382112     DOI： 10.1002/mds.26066

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  8 in total

Review 1.  Arching deep brain stimulation in dystonia types.

Authors:  Han-Joon Kim; Beomseok Jeon
Journal:  J Neural Transm (Vienna)       Date:  2021-03-19       Impact factor: 3.575

2.  Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.

Authors:  Srishti L Bhagat; Sunny Qiu; Zachary F Caffall; Yehong Wan; Yuanji Pan; Ramona M Rodriguiz; William C Wetsel; Alexandra Badea; Ute Hochgeschwender; Nicole Calakos
Journal:  Neurobiol Dis       Date:  2016-05-07       Impact factor: 5.996

Review 3.  Recent developments in dystonia.

Authors:  Hyder A Jinnah; Jan K Teller; Wendy R Galpern
Journal:  Curr Opin Neurol       Date:  2015-08       Impact factor: 5.710

4.  Spectrum of Movement Disorders in 18p Deletion Syndrome.

Authors:  David Crosiers; Bettina Blaumeiser; Gert Van Goethem
Journal:  Mov Disord Clin Pract       Date:  2018-12-06

5.  Functional abnormalities in the cerebello-thalamic pathways in a mouse model of DYT25 dystonia.

Authors:  Hind Baba Aïssa; Romain W Sala; Elena Laura Georgescu Margarint; Clément Léna; Daniela Popa; Jimena Laura Frontera; Andrés Pablo Varani; Fabien Menardy; Assunta Pelosi; Denis Hervé
Journal:  Elife       Date:  2022-06-14       Impact factor: 8.713

6.  GNAL mutation in isolated laryngeal dystonia.

Authors:  Gregory G Putzel; Tania Fuchs; Giovanni Battistella; Estee Rubien-Thomas; Steven J Frucht; Andrew Blitzer; Laurie J Ozelius; Kristina Simonyan
Journal:  Mov Disord       Date:  2016-02-01       Impact factor: 10.338

Review 7.  Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.

Authors:  Lucia Abela; Manju A Kurian
Journal:  J Inherit Metab Dis       Date:  2018-06-13       Impact factor: 4.982

Review 8.  Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.

Authors:  Stephen Tisch; Kishore Raj Kumar
Journal:  Front Neurol       Date:  2021-01-08       Impact factor: 4.003
  8 in total

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