Literature DB >> 21520283

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.

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

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21520283     DOI： 10.1002/mds.23641

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


× No keyword cloud information.
  6 in total

Review 1.  Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

Authors:  Mark S LeDoux; Jianfeng Xiao; Monika Rudzińska; Robert W Bastian; Zbigniew K Wszolek; Jay A Van Gerpen; Andreas Puschmann; Dragana Momčilović; Satya R Vemula; Yu Zhao
Journal:  Parkinsonism Relat Disord       Date:  2012-02-28       Impact factor: 4.891

Review 2.  Inherited isolated dystonia: clinical genetics and gene function.

Authors:  William Dauer
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

3.  Identification and functional analysis of novel THAP1 mutations.

Authors:  Katja Lohmann; Nils Uflacker; Alev Erogullari; Thora Lohnau; Susen Winkler; Andreas Dendorfer; Susanne A Schneider; Alma Osmanovic; Marina Svetel; Andreas Ferbert; Simone Zittel; Andrea A Kühn; Alexander Schmidt; Eckart Altenmüller; Alexander Münchau; Christoph Kamm; Matthias Wittstock; Andreas Kupsch; Elena Moro; Jens Volkmann; Vladimir Kostic; Frank J Kaiser; Christine Klein; Norbert Brüggemann
Journal:  Eur J Hum Genet       Date:  2011-08-17       Impact factor: 4.246

4.  Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.

Authors:  Rachel Saunders-Pullman; Tania Fuchs; Marta San Luciano; Deborah Raymond; Alison Brashear; Robert Ortega; Andres Deik; Laurie J Ozelius; Susan B Bressman
Journal:  Mov Disord       Date:  2014-02-05       Impact factor: 10.338

5.  Diverse Mechanisms Lead to Common Dysfunction of Striatal Cholinergic Interneurons in Distinct Genetic Mouse Models of Dystonia.

Authors:  Karen L Eskow Jaunarajs; Mariangela Scarduzio; Michelle E Ehrlich; Lori L McMahon; David G Standaert
Journal:  J Neurosci       Date:  2019-07-18       Impact factor: 6.167

6.  Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia.

Authors:  Valerija S Dobričić; Nikola D Kresojević; Marina V Svetel; Milena Z Janković; Igor N Petrović; Aleksandra D Tomić; Ivana V Novaković; Vladimir S Kostić
Journal:  J Neurol       Date:  2012-11-20       Impact factor: 4.849
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.