Literature DB >> 30196991

An inherited KMT2B duplication variant in a Chinese family with dystonia and/or development delay.

Lifang Dai1, Changhong Ding2, Fang Fang3.   

Abstract

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Year:  2018        PMID： 30196991     DOI： 10.1016/j.parkreldis.2018.08.021

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  8 in total

Review 1.  Update on KMT2B-Related Dystonia.

Authors:  Michael Zech; Daniel D Lam; Juliane Winkelmann
Journal:  Curr Neurol Neurosci Rep       Date:  2019-11-25       Impact factor: 5.081

Review 2.  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

3.  Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.

Authors:  Hormos Salimi Dafsari; Rosanne Sprute; Gilbert Wunderlich; Hülya-Sevcan Daimagüler; Ezgi Karaca; Adriana Contreras; Kerstin Becker; Mira Schulze-Rhonhof; Karl Kiening; Tülay Karakulak; Manja Kloss; Annette Horn; Amande Pauls; Peter Nürnberg; Janine Altmüller; Holger Thiele; Birgit Assmann; Anne Koy; Sebahattin Cirak
Journal:  J Hum Genet       Date:  2019-06-05       Impact factor: 3.172

4.  Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.

Authors:  Chrysoula Marogianni; Despoina Georgouli; Katerina Dadouli; Panagiotis Ntellas; Dimitrios Rikos; Georgios M Hadjigeorgiou; Cleanthi Spanaki; Georgia Xiromerisiou
Journal:  Mol Biol Rep       Date:  2020-12-09       Impact factor: 2.316

5.  A novel mutation in the PRPH2 gene in a Chinese pedigree with retinitis pigmentosa and angle-closure glaucoma.

Authors:  Wei-Ning Li; Xiu-Juan Du; Yu-Ting Zhang; Le-Yi Wang; Jing Zhu
Journal:  BMC Ophthalmol       Date:  2021-08-16       Impact factor: 2.209

6.  A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.

Authors:  Bianca R Grosz; Stephen Tisch; Michel C Tchan; Victor S C Fung; Paul Darveniza; Avi Fellner; Manju A Kurian; Alison McLean; Susan E Tomlinson; Renee Smyth; Sophie Devery; Kathy H C Wu; Marina L Kennerson; Kishore R Kumar
Journal:  Mol Genet Genomic Med       Date:  2022-03-16       Impact factor: 2.473

7.  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

8.  Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.

Authors:  Andrew Ng; Serena Galosi; Lisa Salz; Terence Wong; Caitlin Schwager; Shivarajan Amudhavalli; Rose Gelineau-Morel; Shimul Chowdhury; Jennifer Friedman
Journal:  BMC Neurol       Date:  2020-06-16       Impact factor: 2.474
  8 in total

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