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

Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease

(2018) Johannes J. Gaare et al.   MOVEMENT DISORDERS

Cognitive impairment in Glucocerebrosidase (GBA)-associated PD: Not primarily associated with cerebrospinal fluid Abeta and Tau profiles

(2017) Stefanie Lerche et al.   MOVEMENT DISORDERS

Genetic risk factors in Finnish patients with Parkinson's disease

(2017) Susanna Ylönen et al.   PARKINSONISM & RELATED DISORDERS

Crystal structure of mammalian acid sphingomyelinase

(2016) Alexei Gorelik et al.   Nature Communications

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

(2015) Ziv Gan-Or et al.   Autophagy

Types A and B Niemann-Pick disease

(2015) Edward H. Schuchman et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations

(2015) Roy N. Alcalay et al.   BRAIN

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

(2015) Stefania Zampieri et al.   HUMAN MUTATION

Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson’s Disease

(2015) Sheng Deng et al.   MOLECULAR NEUROBIOLOGY

Differential effects of severe vs mild GBA mutations on Parkinson disease

(2015) Z. Gan-Or et al.   NEUROLOGY

The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews

(2015) E. Dagan et al.   PARKINSONISM & RELATED DISORDERS

The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies

(2015) Ziv Gan-Or et al.   PARKINSONISM & RELATED DISORDERS

Gene-Wise Association of Variants in Four Lysosomal Storage Disorder Genes in Neuropathologically Confirmed Lewy Body Disease

(2015) Lorraine N. Clark et al.   PLoS One

GBA-associated Parkinson's disease: Reduced survival and more rapid progression in a prospective longitudinal study

(2014) Kathrin Brockmann et al.   MOVEMENT DISORDERS

Knowledge of and Interest in Genetic Results Among Parkinson Disease Patients and Caregivers

(2013) Karina Sakanaka et al.   Journal of Genetic Counseling

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease

(2013) Jia-Nee Foo et al.   NEUROBIOLOGY OF AGING

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

(2013) Z. Gan-Or et al.   NEUROLOGY

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

(2012) Raquel Duran et al.   MOVEMENT DISORDERS

Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2

(2011) Nathan Pankratz et al.   ANNALS OF NEUROLOGY

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives

(2011) Arnold J. Reuser et al.   MOLECULAR GENETICS AND METABOLISM

Improved Immunodetection of Endogenous α-Synuclein

(2011) Byung Rho Lee et al.   PLoS One

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

(2010) Suzanne Lesage et al.   HUMAN MOLECULAR GENETICS

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

An improved high-throughput dried blood spot screening method for Gaucher disease

(2008) Petra Olivova et al.   CLINICA CHIMICA ACTA

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

(2008) Z. Gan-Or et al.   NEUROLOGY