Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
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Published:2016-12-19
Issue:2
Volume:49
Page:223-237
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Meyer Esther, , Carss Keren J, Rankin Julia, Nichols John M E, Grozeva Detelina, Joseph Agnel P, Mencacci Niccolo EORCID, Papandreou ApostolosORCID, Ng Joanne, Barral Serena, Ngoh Adeline, Ben-Pazi Hilla, Willemsen Michel A, Arkadir David, Barnicoat Angela, Bergman HagaiORCID, Bhate Sanjay, Boys Amber, Darin Niklas, Foulds Nicola, Gutowski Nicholas, Hills Alison, Houlden Henry, Hurst Jane A, Israel Zvi, Kaminska Margaret, Limousin Patricia, Lumsden Daniel, McKee ShaneORCID, Misra Shibalik, Mohammed Shekeeb SORCID, Nakou Vasiliki, Nicolai Joost, Nilsson Magnus, Pall Hardev, Peall Kathryn J, Peters Gregory B, Prabhakar Prab, Reuter Miriam S, Rump PatrickORCID, Segel Reeval, Sinnema Margje, Smith Martin, Turnpenny Peter, White Susan MORCID, Wieczorek Dagmar, Wiethoff Sarah, Wilson Brian T, Winter Gidon, Wragg Christopher, Pope Simon, Heales Simon J H, Morrogh Deborah, Pittman Alan, Carr Lucinda J, Perez-Dueñas Belen, Lin Jean-Pierre, Reis AndreORCID, Gahl William A, Toro Camilo, Bhatia Kailash P, Wood Nicholas W, Kamsteeg Erik-Jan, Chong Wui K, Gissen PaulORCID, Topf Maya, Dale Russell C, Chubb Jonathan R, Raymond F Lucy, Kurian Manju A, ,
Publisher
Springer Science and Business Media LLC
Reference76 articles.
1. Charlesworth, G., Bhatia, K.P. & Wood, N.W. The genetics of dystonia: new twists in an old tale. Brain 136, 2017–2037 (2013). 2. Albanese, A. et al. Phenomenology and classification of dystonia: a consensus update. Mov. Disord. 28, 863–873 (2013). 3. Ng, J., Papandreou, A., Heales, S.J. & Kurian, M.A. Monoamine neurotransmitter disorders—clinical advances and future perspectives. Nat. Rev. Neurol. 11, 567–584 (2015). 4. Shanker, V. & Bressman, S.B. Diagnosis and management of dystonia. Continuum (Minneap. Minn.) 22 4 Movement Disorders 1227–1245 (2016). 5. Balint, B. & Bhatia, K.P. Isolated and combined dystonia syndromes—an update on new genes and their phenotypes. Eur. J. Neurol. 22, 610–617 (2015).
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