Literature DB >> 33305852

Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.

Hendrik Pott1, Norbert Brüggemann1,2, Rene Reese3,4, Kirsten E Zeuner3, Florin Gandor5, Doreen Gruber5, Christine Klein1, Jens Volkmann3,6, Katja Lohmann1.   

Abstract

Entities:  

Year:  2020        PMID： 33305852     DOI： 10.1002/ana.25990

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  3 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.  Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia.

Authors:  Jan Niklas Petry-Schmelzer; Joohyun Park; Tobias B Haack; Veerle Visser-Vandewalle; Michael T Barbe; Gilbert Wunderlich
Journal:  Neurol Res Pract       Date:  2022-05-30

3.  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
  3 in total

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