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Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

Archives of neurology, April 2011, Vol.68(4), pp.488-97 [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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Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Nature genetics, June 19, 2011, Vol.43(7), pp.699-705 [Peer Reviewed Journal]

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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Nature Genetics, 2010, Vol.42(3), p.234 [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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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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Alzheimer's disease: analyzing the missing heritability.

PloS one, 2013, Vol.8(11), p.e79771 [Peer Reviewed Journal]

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SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.

PloS one, 2013, Vol.8(4), p.e58618 [Peer Reviewed Journal]

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Rarity of the Alzheimer disease-protective APP A673T variant in the United States.

JAMA neurology, February 2015, Vol.72(2), pp.209-216 [Peer Reviewed Journal]

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Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

JAMA neurology, November 2014, Vol.71(11), pp.1394-404 [Peer Reviewed Journal]

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  1. Schellenberg, Gerard D
  2. Ghetti, Bernardino
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