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Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
Zirn B, Grundmann K, Huppke P, Puthenparampil J, Wolburg H, Riess O, Müller U. Zirn B, et al. Among authors: muller u. J Neurol Neurosurg Psychiatry. 2008 Dec;79(12):1327-30. doi: 10.1136/jnnp.2008.148270. Epub 2008 May 13. J Neurol Neurosurg Psychiatry. 2008. PMID: 18477710
Codon 101 of PRKCG, a preferential mutation site in SCA14.
Nolte D, Klebe S, Baron R, Deuschl G, Müller U. Nolte D, et al. Among authors: muller u. Mov Disord. 2007 Sep 15;22(12):1831-2. doi: 10.1002/mds.21654. Mov Disord. 2007. PMID: 17659643 No abstract available.
Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.
Höglinger GU, Respondek G, Stamelou M, Kurz C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Nilsson C, Whitwell JL, Arzberger T, Englund E, Gelpi E, Giese A, Irwin DJ, Meissner WG, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Antonini A, Bhatia KP, Bordelon Y, Compta Y, Corvol JC, Colosimo C, Dickson DW, Dodel R, Ferguson L, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris HR, Nestor P, Oertel WH, Poewe W, Rabinovici G, Rowe JB, Schellenberg GD, Seppi K, van Eimeren T, Wenning GK, Boxer AL, Golbe LI, Litvan I; Movement Disorder Society-endorsed PSP Study Group. Höglinger GU, et al. Among authors: muller u. Mov Disord. 2017 Jun;32(6):853-864. doi: 10.1002/mds.26987. Epub 2017 May 3. Mov Disord. 2017. PMID: 28467028 Free PMC article.
2,067 results