Childhood-onset writer's cramp evolving to generalised dystonia -a new mutation in KMT2B gene

被引:0
|
作者
Sequeira, M.
Soares, M.
Rosa, J.
机构
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
833
引用
收藏
页码:S371 / S371
页数:1
相关论文
共 50 条
  • [1] Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia
    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 of Human Genetics, 2019, 64 : 803 - 813
  • [2] Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia
    Dafsari, Hormos Salimi
    Sprute, Rosanne
    Wunderlich, Gilbert
    Daimagueler, Huelya-Sevcan
    Karaca, Ezgi
    Contreras, Adriana
    Becker, Kerstin
    Schulze-Rhonhof, Mira
    Kiening, Karl
    Karakulak, Tulay
    Kloss, Manja
    Horn, Annette
    Pauls, Amande
    Nuernberg, Peter
    Altmueller, Janine
    Thiele, Holger
    Assmann, Birgit
    Koy, Anne
    Cirak, Sebahattin
    JOURNAL OF HUMAN GENETICS, 2019, 64 (08) : 803 - 813
  • [3] A clinical case of dystonia-28 childhood-onset with a previously undescribed variant in the KMT2B gene.
    Guseva, D.
    Sharkova, I.
    Semenova, N.
    Dadali, E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 386 - 387
  • [4] Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia
    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 of Human Genetics, 2019, 64 : 1051 - 1054
  • [5] A Novel Mutation in KMT2B Gene Causing Childhood -onset Generalized Dystonia with Expanded Phenotype from India
    Padmanabha, Hansashree
    Awati, Akash M.
    Thomas, Kurian
    Sarma, Gosala R. K.
    NEUROLOGY INDIA, 2021, 69 (05) : 1400 - 1401
  • [6] Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: case report
    Andrea Rangel, Yully
    Espinosa, Eugenia
    BIOMEDICA, 2022, 42 (03): : 1 - 15
  • [7] Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
    Andrea Ciolfi
    Aidin Foroutan
    Alessandro Capuano
    Lucia Pedace
    Lorena Travaglini
    Simone Pizzi
    Marco Andreani
    Evelina Miele
    Federica Invernizzi
    Chiara Reale
    Celeste Panteghini
    Maria Iascone
    Marcello Niceta
    Ralitza H. Gavrilova
    Laura Schultz-Rogers
    Emanuele Agolini
    Maria Francesca Bedeschi
    Paolo Prontera
    Matteo Garibaldi
    Serena Galosi
    Vincenzo Leuzzi
    Paola Soliveri
    Rory J. Olson
    Giovanna S. Zorzi
    Barbara M. Garavaglia
    Marco Tartaglia
    Bekim Sadikovic
    Clinical Epigenetics, 2021, 13
  • [8] Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
    Ciolfi, Andrea
    Foroutan, Aidin
    Capuano, Alessandro
    Pedace, Lucia
    Travaglini, Lorena
    Pizzi, Simone
    Andreani, Marco
    Miele, Evelina
    Invernizzi, Federica
    Reale, Chiara
    Panteghini, Celeste
    Iascone, Maria
    Niceta, Marcello
    Gavrilova, Ralitza H.
    Schultz-Rogers, Laura
    Agolini, Emanuele
    Bedeschi, Maria Francesca
    Prontera, Paolo
    Garibaldi, Matteo
    Galosi, Serena
    Leuzzi, Vincenzo
    Soliveri, Paola
    Olson, Rory J.
    Zorzi, Giovanna S.
    Garavaglia, Barbara M.
    Tartaglia, Marco
    Sadikovic, Bekim
    CLINICAL EPIGENETICS, 2021, 13 (01)
  • [9] KMT2B early childhood onset dystonia presenting as failure to thrive
    Ng, Andrew
    Galosi, Serena
    Salz, Lisa
    Wong, Terence
    Chowdhury, Shimul
    Friedman, Jennifer
    NEUROLOGY, 2019, 92 (15)
  • [10] FROM WRITER'S CRAMP TO BLEPHAROCLONUS: AN ATYPICAL JOURNEY WITH A NOVEL KMT2B VARIANT
    Makharia, A.
    Garg, D.
    Agarwal, A.
    Radhakrishnan, D.
    Pandit, A. K.
    Srivastava, A. K.
    PARKINSONISM & RELATED DISORDERS, 2024, 122