Literature DB >> 27392807

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.

Morgane Miltgen1, Arnaud Blanchard1, Hélène Mathieu1, Alexandre Kreisler2,3, David Salgado1, Agathe Roubertie4, Laura Barre1, Ghadi Rai1, Veronique Blanck5, Melissa Frederic1, Xavier Douay2, Ronald Mazzolenni2, Pierre Charpentier6, Victoria Gonzalez7, Alain Destée2,3, Christophe Béroud1,5, Gwenaelle Collod-Béroud1.   

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Year:  2016        PMID： 27392807     DOI： 10.1002/mds.26717

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


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  6 in total

Review 1.  Isolated dystonia: clinical and genetic updates.

Authors:  Aloysius Domingo; Rachita Yadav; Laurie J Ozelius
Journal:  J Neural Transm (Vienna)       Date:  2020-11-27       Impact factor: 3.575

Review 2.  ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.

Authors:  Nirosen Vijiaratnam; Kailash P Bhatia; Anthony E Lang; Wendy H Raskind; Alberto J Espay
Journal:  Mov Disord Clin Pract       Date:  2019-08-19

Review 3.  Chloride Homeostasis in Neurons With Special Emphasis on the Olivocerebellar System: Differential Roles for Transporters and Channels.

Authors:  Negah Rahmati; Freek E Hoebeek; Saša Peter; Chris I De Zeeuw
Journal:  Front Cell Neurosci       Date:  2018-05-01       Impact factor: 5.505

4.  Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.

Authors:  A Muravyev; T Vershinina; P Tesner; G Sjoberg; Yu Fomicheva; N Novák Čajbiková; A Kozyreva; S Zhuk; E Mamaeva; S Tarnovskaya; J Jornholt; P Sokolnikova; T Pervunina; E Vasichkina; T Sejersen; A Kostareva
Journal:  Orphanet J Rare Dis       Date:  2022-09-14       Impact factor: 4.303

5.  VarAFT: a variant annotation and filtration system for human next generation sequencing data.

Authors:  Jean-Pierre Desvignes; Marc Bartoli; Valérie Delague; Martin Krahn; Morgane Miltgen; Christophe Béroud; David Salgado
Journal:  Nucleic Acids Res       Date:  2018-07-02       Impact factor: 16.971

6.  Youngest presenting patient with dystonia 24 and review of the literature.

Authors:  Sarah Nelin; Richard Hussey; Brian M Faux; Luis Rohena
Journal:  Clin Case Rep       Date:  2018-09-15
  6 in total

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