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Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

Lancet Neurology, October 2013, Vol.12(10), pp.978-988 [Peer Reviewed Journal]

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C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

Neurology, 2013, Vol.81(15), pp.1332-1341 [Peer Reviewed Journal]

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Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Whitcomb, D. C., J. LaRusch, A. M. Krasinskas, L. Klei, J. P. Smith, R. E. Brand, J. P. Neoptolemos, et al. 2012. “Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.” Nature genetics 44 (12): 1349-1354. doi:10.1038/ng.2466. http://dx.doi.org/10.1038/ng.2466. [Peer Reviewed Journal]

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Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

The Lancet Neurology, 2013 [Peer Reviewed Journal]

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Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

Nature Genetics, 2011, Vol.43(5), p.436 [Peer Reviewed Journal]

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TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.

Acta neuropathologica, March 2014, Vol.127(3), pp.397-406 [Peer Reviewed Journal]

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Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.

Molecular neurodegeneration, September 20, 2014, Vol.9, p.38 [Peer Reviewed Journal]

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Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

Neurobiology of Aging, October 2014, Vol.35(10), pp.2421.e13-2421.e17 [Peer Reviewed Journal]

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Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.

Archives of neurology, December 2010, Vol.67(12), pp.1473-1484 [Peer Reviewed Journal]

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Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

The Lancet Neurology, January 2018, Vol.17(1), pp.64-74 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Petersen, Ronald C
  2. Dickson, Dennis W
  3. Beach, Thomas G
  4. Graff-Radford, Neill R
  5. Bigio, Eileen H

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