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Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
Mademan I, Harmuth F, Giordano I, Timmann D, Magri S, Deconinck T, Claaßen J, Jokisch D, Genc G, Di Bella D, Romito S, Schüle R, Züchner S, Taroni F, Klockgether T, Schöls L, De Jonghe P, Bauer P, Consortium E, Baets J, Synofzik M. Mademan I, et al. Among authors: klockgether t. Brain. 2016 Aug;139(Pt 8):e46. doi: 10.1093/brain/aww115. Epub 2016 May 19. Brain. 2016. PMID: 27197992 Free PMC article. No abstract available.
The genetic basis of hereditary ataxia.
Klockgether T, Dichgans J. Klockgether T, et al. Prog Brain Res. 1997;114:569-76. doi: 10.1016/s0079-6123(08)63387-7. Prog Brain Res. 1997. PMID: 9193167 Review. No abstract available.
550 results