Literature DB >> 33638881

YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.

Giovanna Zorzi1, Ignacio Juan Keller Sarmiento2, Federica Rachele Danti1, Bernabe I Bustos2,3, Federica Invernizzi4, Celeste Panteghini4, Chiara Reale4, Barbara Garavaglia4, Luisa Chiapparini5, Steven J Lubbe2,3, Nardo Nardocci1, Niccolò E Mencacci2.   

Abstract

Entities:  

Keywords:  zzm321990YY1; Gabriele-de Vries; deep brain stimulation; dystonia

Mesh：

Substances：

Year:  2021        PMID： 33638881     DOI： 10.1002/mds.28547

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


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  5 in total

Review 1.  The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes.

Authors:  Alessio Di Fonzo; Alberto Albanese; Hyder A Jinnah
Journal:  Curr Opin Neurol       Date:  2022-07-05       Impact factor: 6.283

2.  A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.

Authors:  Suely Rodrigues Dos Santos; Rafael Mina Piergiorge; Jady Rocha; Bianca Barbosa Abdala; Andressa Pereira Gonçalves; Márcia Mattos Gonçalves Pimentel; Cíntia Barros Santos-Rebouças
Journal:  Metab Brain Dis       Date:  2022-07-13       Impact factor: 3.655

3.  A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.

Authors:  Dhananjay Yellajoshyula; Abigail E Rogers; Audrey J Kim; Sumin Kim; Samuel S Pappas; William T Dauer
Journal:  Hum Mol Genet       Date:  2022-03-31       Impact factor: 5.121

4.  Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.

Authors:  Diane Doummar; Marco Treven; Leila Qebibo; David Devos; Jamal Ghoumid; Claudia Ravelli; Gottfried Kranz; Martin Krenn; Diane Demailly; Laura Cif; Jean-Baptiste Davion; Fritz Zimprich; Lydie Burglen; Michael Zech
Journal:  Ann Clin Transl Neurol       Date:  2021-08-20       Impact factor: 4.511

5.  Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue.

Authors:  Elisabetta Indelicato; Michael Zech; Matthias Amprosi; Sylvia Boesch
Journal:  Orphanet J Rare Dis       Date:  2022-02-16       Impact factor: 4.123
  5 in total

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