Literature DB >> 31970221

DYT28 Responsive to Pallidal Deep Brain Stimulation.

Ziqiang Cao1, Hongxin Yao2, Xinhua Bao3, Yongxin Wen3, Baofu Liu2, Shulei Wang2, Haibo Yang2.   

Abstract

Keywords:  DBS; DYT28; KMT2B; dystonia

Year:  2019        PMID： 31970221      PMCID： PMC6962688          DOI： 10.1002/mdc3.12862

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


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  9 in total

1.  Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

Authors:  Toshitaka Kawarai; Ryosuke Miyamoto; Eiji Nakagawa; Reiko Koichihara; Takashi Sakamoto; Hideo Mure; Ryoma Morigaki; Hidetaka Koizumi; Ryosuke Oki; Celeste Montecchiani; Carlo Caltagirone; Antonio Orlacchio; Ayako Hattori; Hideaki Mashimo; Yuishin Izumi; Takahiro Mezaki; Satoko Kumada; Makoto Taniguchi; Fusako Yokochi; Shinji Saitoh; Satoshi Goto; Ryuji Kaji
Journal:  Parkinsonism Relat Disord       Date:  2018-04-05       Impact factor: 4.891

2.  Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

Authors:  Michael Zech; Robert Jech; Matias Wagner; Tobias Mantel; Sylvia Boesch; Michael Nocker; Angela Jochim; Riccardo Berutti; Petra Havránková; Anna Fečíková; David Kemlink; Jan Roth; Tim M Strom; Werner Poewe; Evžen Růžička; Bernhard Haslinger; Juliane Winkelmann
Journal:  Neurogenetics       Date:  2017-08-28       Impact factor: 2.660

Review 3.  Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.

Authors:  K M Gorman; E Meyer; M A Kurian
Journal:  Eur J Paediatr Neurol       Date:  2017-12-15       Impact factor: 3.140

4.  KMT2B rare missense variants in generalized dystonia.

Authors:  Michael Zech; Robert Jech; Petra Havránková; Anna Fečíková; Riccardo Berutti; Dušan Urgošík; David Kemlink; Tim M Strom; Jan Roth; Evžen Růžička; Juliane Winkelmann
Journal:  Mov Disord       Date:  2017-05-18       Impact factor: 10.338

5.  Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Authors:  Michael Zech; Sylvia Boesch; Esther M Maier; Ingo Borggraefe; Katharina Vill; Franco Laccone; Veronika Pilshofer; Andres Ceballos-Baumann; Bader Alhaddad; Riccardo Berutti; Werner Poewe; Tobias B Haack; Bernhard Haslinger; Tim M Strom; Juliane Winkelmann
Journal:  Am J Hum Genet       Date:  2016-11-10       Impact factor: 11.025

6.  Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Authors:  Esther Meyer; Keren J Carss; Julia Rankin; John M E Nichols; Detelina Grozeva; Agnel P Joseph; Niccolo E Mencacci; Apostolos Papandreou; Joanne Ng; Serena Barral; Adeline Ngoh; Hilla Ben-Pazi; Michel A Willemsen; David Arkadir; Angela Barnicoat; Hagai Bergman; Sanjay Bhate; Amber Boys; Niklas Darin; Nicola Foulds; Nicholas Gutowski; Alison Hills; Henry Houlden; Jane A Hurst; Zvi Israel; Margaret Kaminska; Patricia Limousin; Daniel Lumsden; Shane McKee; Shibalik Misra; Shekeeb S Mohammed; Vasiliki Nakou; Joost Nicolai; Magnus Nilsson; Hardev Pall; Kathryn J Peall; Gregory B Peters; Prab Prabhakar; Miriam S Reuter; Patrick Rump; Reeval Segel; Margje Sinnema; Martin Smith; Peter Turnpenny; Susan M White; Dagmar Wieczorek; Sarah Wiethoff; Brian T Wilson; Gidon Winter; Christopher Wragg; Simon Pope; Simon J H Heales; Deborah Morrogh; Alan Pittman; Lucinda J Carr; Belen Perez-Dueñas; Jean-Pierre Lin; Andre Reis; William A Gahl; Camilo Toro; Kailash P Bhatia; Nicholas W Wood; Erik-Jan Kamsteeg; Wui K Chong; Paul Gissen; Maya Topf; Russell C Dale; Jonathan R Chubb; F Lucy Raymond; Manju A Kurian
Journal:  Nat Genet       Date:  2016-12-19       Impact factor: 38.330

Review 7.  Update on the Genetics of Dystonia.

Authors:  Katja Lohmann; Christine Klein
Journal:  Curr Neurol Neurosci Rep       Date:  2017-03       Impact factor: 5.081

8.  Identifying a high fraction of the human genome to be under selective constraint using GERP++.

Authors:  Eugene V Davydov; David L Goode; Marina Sirota; Gregory M Cooper; Arend Sidow; Serafim Batzoglou
Journal:  PLoS Comput Biol       Date:  2010-12-02       Impact factor: 4.475

9.  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
  9 in total
  4 in total

Review 1.  Genetic Dystonias: Update on Classification and New Genetic Discoveries.

Authors:  Ignacio Juan Keller Sarmiento; Niccolò Emanuele Mencacci
Journal:  Curr Neurol Neurosci Rep       Date:  2021-02-09       Impact factor: 5.081

Review 2.  GPi-DBS for KMT2B-Associated Dystonia: Systematic Review and Meta-Analysis.

Authors:  Roopa Rajan; Kanwaljeet Garg; Arti Saini; Divya M Radhakrishnan; Miryam Carecchio; Binukumar Bk; Manmohan Singh; Achal K Srivastava
Journal:  Mov Disord Clin Pract       Date:  2021-12-04

3.  Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech.

Authors:  Maria Abel; Robert Pfister; Iman Hussein; Fahd Alsalloum; Christina Onyinzo; Simon Kappl; Michael Zech; Walter Demmel; Martin Staudt; Manfred Kudernatsch; Steffen Berweck
Journal:  Front Neurol       Date:  2021-05-14       Impact factor: 4.003

4.  KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:  Laura Cif; Diane Demailly; Jean-Pierre Lin; Katy E Barwick; Mario Sa; Lucia Abela; Sony Malhotra; Wui K Chong; Dora Steel; Alba Sanchis-Juan; Adeline Ngoh; Natalie Trump; Esther Meyer; Xavier Vasques; Julia Rankin; Meredith W Allain; Carolyn D Applegate; Sanaz Attaripour Isfahani; Julien Baleine; Bettina Balint; Jennifer A Bassetti; Emma L Baple; Kailash P Bhatia; Catherine Blanchet; Lydie Burglen; Gilles Cambonie; Emilie Chan Seng; Sandra Chantot Bastaraud; Fabienne Cyprien; Christine Coubes; Vincent d'Hardemare; Asif Doja; Nathalie Dorison; Diane Doummar; Marisela E Dy-Hollins; Ellyn Farrelly; David R Fitzpatrick; Conor Fearon; Elizabeth L Fieg; Brent L Fogel; Eva B Forman; Rachel G Fox; William A Gahl; Serena Galosi; Victoria Gonzalez; Tracey D Graves; Allison Gregory; Mark Hallett; Harutomo Hasegawa; Susan J Hayflick; Ada Hamosh; Marie Hully; Sandra Jansen; Suh Young Jeong; Joel B Krier; Sidney Krystal; Kishore R Kumar; Chloé Laurencin; Hane Lee; Gaetan Lesca; Laurence Lion François; Timothy Lynch; Neil Mahant; Julian A Martinez-Agosto; Christophe Milesi; Kelly A Mills; Michel Mondain; Hugo Morales-Briceno; John R Ostergaard; Swasti Pal; Juan C Pallais; Frédérique Pavillard; Pierre-Francois Perrigault; Andrea K Petersen; Gustavo Polo; Gaetan Poulen; Tuula Rinne; Thomas Roujeau; Caleb Rogers; Agathe Roubertie; Michelle Sahagian; Elise Schaefer; Laila Selim; Richard Selway; Nutan Sharma; Rebecca Signer; Ariane G Soldatos; David A Stevenson; Fiona Stewart; Michel Tchan; Ishwar C Verma; Bert B A de Vries; Jenny L Wilson; Derek A Wong; Raghda Zaitoun; Dolly Zhen; Anna Znaczko; Russell C Dale; Claudio M de Gusmão; Jennifer Friedman; Victor S C Fung; Mary D King; Shekeeb S Mohammad; Luis Rohena; Jeff L Waugh; Camilo Toro; F Lucy Raymond; Maya Topf; Philippe Coubes; Kathleen M Gorman; Manju A Kurian
Journal:  Brain       Date:  2020-12-05       Impact factor: 13.501
  4 in total

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