Literature DB >> 35586525

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

Xiaojing Gu1, Junyu Lin1, Yanbing Hou1, Lingyu Zhang1, Huifang Shang1.   

Abstract

Entities:  

Year:  2021        PMID： 35586525      PMCID： PMC9092738          DOI： 10.1002/mdc3.13392

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


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  7 in total

1.  Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.

Authors:  Hendrik Pott; Norbert Brüggemann; Rene Reese; Kirsten E Zeuner; Florin Gandor; Doreen Gruber; Christine Klein; Jens Volkmann; Katja Lohmann
Journal:  Ann Neurol       Date:  2020-12-28       Impact factor: 10.422

2.  Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Authors:  Dora Steel; Michael Zech; Chen Zhao; Katy E S Barwick; Derek Burke; Diane Demailly; Kishore R Kumar; Giovanna Zorzi; Nardo Nardocci; Rauan Kaiyrzhanov; Matias Wagner; Arcangela Iuso; Riccardo Berutti; Matej Škorvánek; Ján Necpál; Ryan Davis; Sarah Wiethoff; Kshitij Mankad; Sniya Sudhakar; Arianna Ferrini; Suvasini Sharma; Erik-Jan Kamsteeg; Marina A Tijssen; Corien Verschuuren; Martje E van Egmond; Joanna M Flowers; Meriel McEntagart; Arianna Tucci; Philippe Coubes; Bernabe I Bustos; Paulina Gonzalez-Latapi; Stephen Tisch; Paul Darveniza; Kathleen M Gorman; Kathryn J Peall; Kai Bötzel; Jan C Koch; Tomasz Kmieć; Barbara Plecko; Sylvia Boesch; Bernhard Haslinger; Robert Jech; Barbara Garavaglia; Nick Wood; Henry Houlden; Paul Gissen; Steven J Lubbe; Carolyn M Sue; Laura Cif; Niccolò E Mencacci; Glenn Anderson; Manju A Kurian; Juliane Winkelmann
Journal:  Ann Neurol       Date:  2020-09-21       Impact factor: 10.422

3.  Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.

Authors:  Xin-Yao Li; Lin Wang; Yi Guo; Xin-Hua Wan
Journal:  Mov Disord       Date:  2021-02-17       Impact factor: 10.338

4.  Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.

Authors:  Michael Zech; Sylvia Boesch; Matej Škorvánek; Ján Necpál; Jana Švantnerová; Matias Wagner; Yasemin Dincer; Ariane Sadr-Nabavi; Tereza Serranová; Irena Rektorová; Petra Havránková; Shahzaman Ganai; Alexandra Mosejová; Iva Příhodová; Jana Šarláková; Kristína Kulcsarová; Olga Ulmanová; Karel Bechyně; Miriam Ostrozovičová; Vladimír Haň; Joaquim Ribeiro Ventosa; Mohammad Shariati; Ali Shoeibi; Sandrina Weber; Brit Mollenhauer; Claudia Trenkwalder; Riccardo Berutti; Tim M Strom; Andres Ceballos-Baumann; Volker Mall; Bernhard Haslinger; Robert Jech; Juliane Winkelmann
Journal:  Parkinsonism Relat Disord       Date:  2021-02-12       Impact factor: 4.891

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

Authors:  Miriama Ostrozovicova; Robert Jech; Dora Steel; Petra Pavelekova; Vladimir Han; Zuzana Gdovinova; Peter Lichtner; Manju A Kurian; Sarah Wiethoff; Henry Houlden; Petra Havránková; Julianne Winkelmann; Michael Zech; Matej Skorvanek
Journal:  Mov Disord       Date:  2021-05-17       Impact factor: 10.338

6.  Mutation screening of VPS16 gene in patients with isolated dystonia.

Authors:  Li-Xi Li; Li-Ting Jiang; Ying Liu; Xiao-Long Zhang; You-Gui Pan; Li-Zhen Pan; Zhi-Yu Nie; Xin-Hua Wan; Ling-Jing Jin
Journal:  Parkinsonism Relat Disord       Date:  2021-01-12       Impact factor: 4.891

7.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822
  7 in total

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