Contribution of rare variant associations to neurodegenerative disease presentation

The mutational constraint spectrum quantified from variation in 141,456 humans

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Parkinson's Disease, NOTCH3 Genetic Variants, and White Matter Hyperintensities

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Mean and median bias reduction in generalized linear models

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The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes

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Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

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Lysosomal Dysfunction at the Centre of Parkinson’s Disease and Frontotemporal Dementia/Amyotrophic Lateral Sclerosis

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How much of the missing heritability of ALS is hidden in known ALS genes?

(2018) Philip Van Damme   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Prevalence of Amyotrophic Lateral Sclerosis — United States, 2014

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The role of monogenic genes in idiopathic Parkinson’s disease

(2018) Xylena Reed et al.   NEUROBIOLOGY OF DISEASE

Genetics of Amyotrophic Lateral Sclerosis

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Red hair,MC1Rvariants, and risk for Parkinson's disease - a meta-analysis

(2017) Xiqun Chen et al.   Annals of Clinical and Translational Neurology

Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease

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The Ontario Neurodegenerative Disease Research Initiative (ONDRI)

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The Prevalence and Incidence of Frontotemporal Dementia: a Systematic Review

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Genetic Counseling and Testing for Alzheimer’s Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol

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The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

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The Evolution of Genetics: Alzheimer’s and Parkinson’s Diseases

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The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

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Jump from Pre-mutation to Pathologic Expansion in C9orf72

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TheMC1Rmelanoma risk variant p.R160W is associated with Parkinson disease

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The genetic landscape of Alzheimer disease: clinical implications and perspectives

(2015) Caroline Van Cauwenberghe et al.   GENETICS IN MEDICINE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Rare-Variant Association Analysis: Study Designs and Statistical Tests

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A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

(2014) Mike A Nalls et al.   NATURE GENETICS

Genome-Wide Analysis of the Heritability of Amyotrophic Lateral Sclerosis

(2014) Margaux F. Keller et al.   JAMA Neurology

Non-Alzheimer neurodegenerative pathologies and their combinations are more frequent than commonly believed in the elderly brain: a community-based autopsy series

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Classification and Epidemiology of MCI

(2013) Rosebud Roberts et al.   CLINICS IN GERIATRIC MEDICINE

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Alzheimer’s Disease: Analyzing the Missing Heritability

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Investigation of C9orf72 in 4 Neurodegenerative Disorders

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A high-performance computing toolset for relatedness and principal component analysis of SNP data

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Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

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Meta-analysis of the relationship between Parkinson disease and melanoma

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Role of Mendelian genes in “sporadic” Parkinson's disease

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Protein coding of neurodegenerative dementias: the neuropathological basis of biomarker diagnostics

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A method and server for predicting damaging missense mutations

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Genome-wide association study reveals genetic risk underlying Parkinson's disease

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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