Literature DB >> 31061849

Movement Disorders in Adults with 22q11 Deletion Syndrome.

Alisdair McNeill1.   

Abstract

Entities:  

Keywords:  22q11 deletion syndrome; Parkinson's disease

Year:  2019        PMID： 31061849      PMCID： PMC6476592          DOI： 10.1002/mdc3.12752

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  4 in total

1.  Hyposmia, symptoms of rapid eye movement sleep behavior disorder, and parkinsonian motor signs suggest prodromal neurodegeneration in 22q11 deletion syndrome.

Authors:  Ellen Buckley; Azeem Siddique; Alisdair McNeill
Journal:  Neuroreport       Date:  2017-08-02       Impact factor: 1.837

2.  MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

Authors:  Patricia Blanchet; Martina Bebin; Shaam Bruet; Gregory M Cooper; Michelle L Thompson; Benedicte Duban-Bedu; Benedicte Gerard; Amelie Piton; Sylvie Suckno; Charu Deshpande; Virginia Clowes; Julie Vogt; Peter Turnpenny; Michael P Williamson; Yves Alembik; Eric Glasgow; Alisdair McNeill
Journal:  PLoS Genet       Date:  2017-08-31       Impact factor: 5.917

Review 3.  22q11.2 Deletion Syndrome-Associated Parkinson's Disease.

Authors:  Erik Boot; Anne S Bassett; Connie Marras
Journal:  Mov Disord Clin Pract       Date:  2018-11-09

4.  Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

Authors:  Annmarie Hempel; Alistair T Pagnamenta; Moira Blyth; Sahar Mansour; Vivienne McConnell; Ikuyo Kou; Shiro Ikegawa; Yoshinori Tsurusaki; Naomichi Matsumoto; Adriana Lo-Castro; Ghislaine Plessis; Beate Albrecht; Agatino Battaglia; Jenny C Taylor; Malcolm F Howard; David Keays; Aman Singh Sohal; Susanne J Kühl; Usha Kini; Alisdair McNeill
Journal:  J Med Genet       Date:  2015-11-05       Impact factor: 6.318
  4 in total

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