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Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Müller-Myhsok B, Riedel L, Bauer M, Müller T, Castro M, Meitinger T, Strom TM, Gasser T. Zimprich A, et al. Among authors: bauer m. Nat Genet. 2001 Sep;29(1):66-9. doi: 10.1038/ng709. Nat Genet. 2001. PMID: 11528394
Disease severity and progression in progressive supranuclear palsy and multiple system atrophy: validation of the NNIPPS--Parkinson Plus Scale.
Payan CA, Viallet F, Landwehrmeyer BG, Bonnet AM, Borg M, Durif F, Lacomblez L, Bloch F, Verny M, Fermanian J, Agid Y, Ludolph AC, Leigh PN, Bensimon G; NNIPPS Study Group. Payan CA, et al. PLoS One. 2011;6(8):e22293. doi: 10.1371/journal.pone.0022293. Epub 2011 Aug 4. PLoS One. 2011. PMID: 21829612 Free PMC article.
4,333 results