Literature DB >> 21462265

Myoclonus-dystonia in 18p deletion syndrome.

Markus C Kowarik, Sabine Langer, Corinna Keri, Bernhard Hemmer, Konrad Oexle, Juliane Winkelmann.   

Abstract

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Year:  2010        PMID： 21462265     DOI： 10.1002/mds.23446

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


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  5 in total

1.  The Spectrum of Movement Disorders in 18-p Deletion Syndrome.

Authors:  Lydia Vela-Desojo; Ana Rojo-Sebastian; Manuel Baron-Rubio; Dolors Badenes
Journal:  Mov Disord Clin Pract       Date:  2019-10-23

2.  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

3.  Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Authors:  Satya R Vemula; Andreas Puschmann; Jianfeng Xiao; Yu Zhao; Monika Rudzińska; Karen P Frei; Daniel D Truong; Zbigniew K Wszolek; Mark S LeDoux
Journal:  Hum Mol Genet       Date:  2013-02-27       Impact factor: 6.150

4.  Mutations in GNAL cause primary torsion dystonia.

Authors:  Tania Fuchs; Rachel Saunders-Pullman; Ikuo Masuho; Marta San Luciano; Deborah Raymond; Stewart Factor; Anthony E Lang; Tsao-Wei Liang; Richard M Trosch; Sierra White; Edmond Ainehsazan; Denis Hervé; Nutan Sharma; Michelle E Ehrlich; Kirill A Martemyanov; Susan B Bressman; Laurie J Ozelius
Journal:  Nat Genet       Date:  2012-12-09       Impact factor: 38.330

5.  Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report.

Authors:  A Karaman; B Karaman; A Çetinkaya; S Karaman; O Demirci
Journal:  Balkan J Med Genet       Date:  2020-08-26       Impact factor: 0.519
  5 in total

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