Rare Variants in Specific Lysosomal Genes Are Associated with Parkinson's Disease

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

(2019) Roy N. Alcalay et al.   MOVEMENT DISORDERS

GBA1-associated parkinsonism

(2019) Emory Ryan et al.   CURRENT OPINION IN NEUROLOGY

mipfp: An R Package for Multidimensional Array Fitting and Simulating Multivariate Bernoulli Distributions

(2018) Johan Barthélemy et al.   Journal of Statistical Software

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

(2017) Diana Chang et al.   NATURE GENETICS

TMEM175 deficiency impairs lysosomal and mitochondrial function and increases α-synuclein aggregation

(2017) Sarah Jinn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

(2016) Suzanne Lesage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The endosomal pathway in Parkinson's disease

(2015) Rebecca M. Perrett et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms

(2015) Jin-Sung Park et al.   MOVEMENT DISORDERS

Cysteine cathepsins are essential in lysosomal degradation of α-synuclein

(2015) Ryan P. McGlinchey et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in VPS26A are not a frequent cause of Parkinson's disease

(2014) Eva Koschmidder et al.   NEUROBIOLOGY OF AGING

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DOGS

(2012) K. Berger   Bundesgesundheitsblatt-Gesundheitsforschung-Gesundheitsschutz

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

Alpha-synuclein and Protein Degradation Systems: a Reciprocal Relationship

(2012) Maria Xilouri et al.   MOLECULAR NEUROBIOLOGY

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alterations in lysosomal and proteasomal markers in Parkinson's disease: Relationship to alpha-synuclein inclusions

(2009) Yaping Chu et al.   NEUROBIOLOGY OF DISEASE

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic association study of the P-type ATPaseATP13A2in late-onset Parkinson's disease

(2008) Aleksandar Rakovic et al.   MOVEMENT DISORDERS