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DYT16: the original cases.
J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):1012-4. doi: 10.1136/jnnp-2012-302841. Epub 2012 Jul 28.
J Neurol Neurosurg Psychiatry. 2012.
PMID: 22842711
Free PMC article.
Mutational analysis of parkin and PINK1 in multiple system atrophy.
Brooks JA, Houlden H, Melchers A, Islam AJ, Ding J, Li A, Paudel R, Revesz T, Holton JL, Wood N, Lees A, Singleton AB, Scholz SW.
Brooks JA, et al.
Neurobiol Aging. 2011 Mar;32(3):548.e5-7. doi: 10.1016/j.neurobiolaging.2009.11.020. Epub 2010 Jan 19.
Neurobiol Aging. 2011.
PMID: 20034704
Free PMC article.
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Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.
van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H.
van de Leemput J, et al.
Mov Disord. 2010 Apr 30;25(6):771-3. doi: 10.1002/mds.22970.
Mov Disord. 2010.
PMID: 20437544
Free PMC article.
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SNCA variants are associated with increased risk for multiple system atrophy.
Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T.
Scholz SW, et al.
Ann Neurol. 2009 May;65(5):610-4. doi: 10.1002/ana.21685.
Ann Neurol. 2009.
PMID: 19475667
Free PMC article.
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Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.
Scholz SW, Majounie E, Revesz T, Holton JL, Okun MS, Houlden H, Singleton AB.
Scholz SW, et al.
Neurobiol Aging. 2015 Feb;36(2):1223.e1-2. doi: 10.1016/j.neurobiolaging.2014.08.033. Epub 2014 Sep 6.
Neurobiol Aging. 2015.
PMID: 25281017
Free PMC article.
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