Literature DB >> 33998058

A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.

Miriama Ostrozovicova1,2, Robert Jech3, Dora Steel4,5, Petra Pavelekova1, Vladimir Han1,2, Zuzana Gdovinova1,2, Peter Lichtner6, Manju A Kurian4,5, Sarah Wiethoff7,8, Henry Houlden9, Petra Havránková3, Julianne Winkelmann10,11,12,13, Michael Zech10,11, Matej Skorvanek1,2.   

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Year:  2021        PMID： 33998058     DOI： 10.1002/mds.28647

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


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  2 in total

1.  De Novo Missense Mutation of VPS16 in a Chinese Patient with Generalized Dystonia with Myoclonus.

Authors:  Xiaojing Gu; Junyu Lin; Yanbing Hou; Lingyu Zhang; Huifang Shang
Journal:  Mov Disord Clin Pract       Date:  2021-12-26

2.  Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.

Authors:  Joohyun Park; Annemarie Reilaender; Jan N Petry-Schmelzer; Petra Stöbe; Isabell Cordts; Florian Harmuth; Maren Rautenberg; Sarah E Woerz; German Demidov; Marc Sturm; Stephan Ossowski; Eva M C Schwaibold; Gilbert Wunderlich; Sebastian Paus; Carsten Saft; Tobias B Haack
Journal:  Neurol Genet       Date:  2021-12-07
  2 in total

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