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2009 | 2 |
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Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.
J Clin Invest. 2011 Jan;121(1):446-53. doi: 10.1172/JCI44474. Epub 2010 Dec 1.
J Clin Invest. 2011.
PMID: 21123949
Free PMC article.
A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.
Williams KL, Durnall JC, Thoeng AD, Warraich ST, Nicholson GA, Blair IP.
Williams KL, et al. Among authors: thoeng ad.
J Neurol Neurosurg Psychiatry. 2009 Nov;80(11):1286-8. doi: 10.1136/jnnp.2008.163261.
J Neurol Neurosurg Psychiatry. 2009.
PMID: 19864664
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FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis.
Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, Manavis J, Blumbergs PC, Vucic S, Kiernan MC, Nicholson GA.
Blair IP, et al. Among authors: thoeng ad.
J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):639-45. doi: 10.1136/jnnp.2009.194399. Epub 2009 Dec 3.
J Neurol Neurosurg Psychiatry. 2010.
PMID: 19965854
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