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Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium; Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Meyer E, et al. Among authors: joseph ap. Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. Nat Genet. 2017. PMID: 28546572 No abstract available.
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium; Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Meyer E, et al. Among authors: joseph ap. Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992417 Free article.
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Carecchio M, Invernizzi F, Gonzàlez-Latapi P, Panteghini C, Zorzi G, Romito L, Leuzzi V, Galosi S, Reale C, Zibordi F, Joseph AP, Topf M, Piano C, Bentivoglio AR, Girotti F, Morana P, Morana B, Kurian MA, Garavaglia B, Mencacci NE, Lubbe SJ, Nardocci N. Carecchio M, et al. Among authors: joseph ap. Mov Disord. 2019 Oct;34(10):1516-1527. doi: 10.1002/mds.27771. Epub 2019 Jun 19. Mov Disord. 2019. PMID: 31216378
Integrative modelling of cellular assemblies.
Joseph AP, Polles G, Alber F, Topf M. Joseph AP, et al. Curr Opin Struct Biol. 2017 Oct;46:102-109. doi: 10.1016/j.sbi.2017.07.001. Epub 2017 Jul 20. Curr Opin Struct Biol. 2017. PMID: 28735107 Free PMC article. Review.
Structural basis of human kinesin-8 function and inhibition.
Locke J, Joseph AP, Peña A, Möckel MM, Mayer TU, Topf M, Moores CA. Locke J, et al. Among authors: joseph ap. Proc Natl Acad Sci U S A. 2017 Nov 7;114(45):E9539-E9548. doi: 10.1073/pnas.1712169114. Epub 2017 Oct 23. Proc Natl Acad Sci U S A. 2017. PMID: 29078367 Free PMC article.
116 results