about
Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson diseaseMulticenter analysis of glucocerebrosidase mutations in Parkinson's disease.The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson diseaseFalse-positive results using a Gaucher diagnostic kit--RecTL and N370SDifferential effects of severe vs mild GBA mutations on Parkinson disease.Genetic markers of Restless Legs Syndrome in Parkinson diseaseGlucocerebrosidase activity in Parkinson's disease with and without GBA mutationsGBA mutations are associated with Rapid Eye Movement Sleep Behavior DisorderSCARB2 variants and glucocerebrosidase activity in Parkinson's disease.Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic ParaplegiaThe role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorderGBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease.The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews.RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia.Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis.A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder.Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.Clinical and genetic study of hereditary spastic paraplegia in Canada.The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies.Association of sequence alterations in the putative promoter of RAB7L1 with a reduced parkinson disease risk.Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease.RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder.Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.POLR3A variants in hereditary spastic paraplegia and ataxia.Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects.KCNA2 mutations are rare in hereditary spastic paraplegia.Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations.SEPT14 Is Associated with a Reduced Risk for Parkinson's Disease and Expressed in Human Brain.Association study of essential tremor genetic loci in Parkinson's disease.Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.Sleep disorders and Parkinson disease; lessons from genetics.Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
P50
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P50
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hulumtues
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Ziv Gan-Or
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Ziv Gan-Or
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P106
P1153
24437422000
P21
P31
P496
0000-0003-0332-234X