Publications

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Nat Genet 2017 Sep 17;49(9):1373-1384. Epub 2017 Jul 17.
Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.



Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells.
Hum Mol Genet 2015 Jan 20;24(1):100-17. Epub 2014 Aug 20.
Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, 4710-057 Braga ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães and

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.
JAMA Neurol 2014 Nov;71(11):1394-404
Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois.

Differential effects of delayed aging on phenotype and striatal pathology in a murine model of Huntington disease.
J Neurosci 2014 Nov;34(47):15658-68
Departments of Neurology, Michigan Alzheimer Disease Center, Ann Arbor, Michigan 48105, and Neurology Service and Geriatrics Research, Education, and Clinical Center, VAAAHS, Ann Arbor, Michigan 48105





The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.
Hum Mol Genet 2011 Jan 11;20(1):141-54. Epub 2010 Oct 11.
Centre for Neuronal Survival and McGill Parkinson Program, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

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