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1. Full Text Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
by Lesage, Suzanne and Anheim, Mathieu and Condroyer, Christel and Pollak, Pierre and Durif, Franck and Dupuits, Céline and Viallet, François and Lohmann, Ebba and Corvol, Jean-Christophe and Honoré, Aurélie and Rivaud, Sophie and Vidailhet, Marie and Dürr, Alexandra and Brice, Alexis and French Parkinsons Dis Genetics and French Parkinson's Disease Genetics Study Group
Human molecular genetics, ISSN 0964-6906, 01/2011, Volume 20, Issue 1, pp. 202 - 210
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Errors of metabolism | Biological and medical sciences | Metabolic diseases | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Lipids (lysosomal enzyme disorders, storage diseases) | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Glucosylceramidase - genetics | Humans | Middle Aged | Risk Factors | Male | Parkinson Disease - genetics | Gaucher Disease - genetics | Base Sequence | Aged, 80 and over | Hypokinesia - genetics | Adult | Female | Genomic Structural Variation - genetics | Aged | Mutation | Index Medicus
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2. Full Text Emerging links between pediatric lysosomal storage diseases and adult parkinsonism
by Ysselstein, Daniel and Shulman, Joshua M and Krainc, Dimitri
Movement disorders, ISSN 0885-3185, 05/2019, Volume 34, Issue 5, pp. 614 - 624
genetics | Parkinson's disease | movement disorders | lysosomal storage disease | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Sphingomyelin Phosphodiesterase - genetics | Glucosylceramidase - genetics | Mucopolysaccharidosis III - genetics | Humans | Lysosomal Storage Diseases - genetics | Sandhoff Disease - genetics | Parkinson Disease - genetics | Phenotype | Gaucher Disease - genetics | Neuronal Ceroid-Lipofuscinoses - genetics | Proton-Translocating ATPases - genetics | Galactosylceramidase - genetics | Adult | Parkinsonian Disorders - genetics | Leukodystrophy, Globoid Cell - genetics | Mutation | Child | Niemann-Pick Diseases - genetics | Pediatrics | Genetics | Children | Epidemiology | Risk factors | Cells | Diseases | Basal ganglia | Neurodegenerative diseases | Central nervous system diseases | Homeostasis | Lysosomes | Lysosomal storage diseases | Neurological diseases | Evolution | Glucosylceramidase | Movement disorders | Gaucher's disease | Index Medicus | Parkinson’s Disease | Lysosomal Storage Disease | Movement Disorders
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3. Full Text Cognitive performance of GBA mutation carriers with early-onset PD The CORE-PD study
by Alcalay, R.N and Caccappolo, E and Mejia-Santana, H and Tang, M.-X and Rosado, L and Reilly, M. Orbe and Ruiz, D and Ross, B and Verbitsky, M and Kisselev, S and Louis, E and Comella, C and Colcher, A and Jennings, D and Nance, M and Bressman, S and Scott, W.K and Tanner, C and Mickel, S and Andrews, H and Waters, C and Fahn, S and Cote, L and Frucht, S and Ford, B and Rezak, M and Novak, K and Friedman, J.H and Pfeiffer, R and Marsh, L and Hiner, B and Siderowf, A and Payami, H and Molho, E and Factor, S and Ottman, R and Clark, L.N and Marder, K
Neurology, ISSN 0028-3878, 05/2012, Volume 78, Issue 18, pp. 1434 - 1440
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Olfaction Disorders - genetics | Glucosylceramidase - genetics | Genetic Testing | Memory Disorders - genetics | Humans | Middle Aged | Dementia - diagnosis | Male | Memory Disorders - diagnosis | Olfaction Disorders - diagnosis | Dementia - genetics | Basal Ganglia Diseases - genetics | DNA Mutational Analysis | beta-Glucosidase - genetics | Basal Ganglia Diseases - diagnosis | Mental Status Schedule | Adult | Cognitive Dysfunction - genetics | Female | Cognitive Dysfunction - diagnosis | Depressive Disorder - genetics | Depressive Disorder - diagnosis | Protein-Serine-Threonine Kinases - genetics | Genotype | Parkinson Disease - genetics | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Neuropsychological Tests | Phenotype | Parkinson Disease - diagnosis | Ubiquitin-Protein Ligases - genetics | Genetic Carrier Screening | Index Medicus | Abridged Index Medicus | Executive function | Demography | Parkinson's disease | Neurodegenerative diseases | Memory | spatial memory | Attention | Cognitive ability | Risk factors | Dementia disorders | Glucosylceramidase | Parkin protein | Mutation | LRRK2 protein | Age | Genotypes | Movement disorders | 165 | 201 | 205
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4. Full Text The Genetics of Parkinson Disease
by Bekris, Lynn M and Mata, Ignacio F and Zabetian, Cyrus P
Journal of geriatric psychiatry and neurology, ISSN 0891-9887, 12/2010, Volume 23, Issue 4, pp. 228 - 242
neurodegeneration | Parkinson disease | genetics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Geriatrics & Gerontology | Science & Technology | Glucosylceramidase - genetics | Protein Kinases - genetics | Exons | Humans | Repressor Proteins | Incidence | Genetic Variation | Proton-Translocating ATPases - genetics | tau Proteins - genetics | Aging - genetics | Parkinson Disease - epidemiology | alpha-Synuclein - genetics | Gene Expression | Genetic Predisposition to Disease | Calcium-Binding Proteins | Risk Factors | Protein-Serine-Threonine Kinases - genetics | Aging - psychology | Parkinson Disease - genetics | Ubiquitin-Protein Ligases - classification | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Carrier Proteins - genetics | Animals | Parkinson Disease - diagnosis | Mutation | Ubiquitin-Protein Ligases - genetics | Psychological aspects | Causes of | Genetic aspects | Aged | Parkinson's disease | Care and treatment | Gene mutations | Research | Diagnosis | Health aspects | Index Medicus
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5. Full Text Acid ceramidase inhibition ameliorates α-synuclein accumulation upon loss of GBA1 function
by Kim, Myung Jong and Jeon, Sohee and Burbulla, Lena F and Krainc, Dimitri
Human molecular genetics, ISSN 0964-6906, 06/2018, Volume 27, Issue 11, pp. 1972 - 1988
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Cell Line | Glucosylceramidase - genetics | Parkinson Disease - pathology | Ceramides - metabolism | Dopaminergic Neurons - pathology | Gene Expression - genetics | Humans | Lysosomes - genetics | Lewy Body Disease - pathology | rab GTP-Binding Proteins - genetics | Parkinson Disease - genetics | CRISPR-Cas Systems - genetics | Gene Editing | Ceramides - genetics | Lewy Body Disease - genetics | Lysosomes - metabolism | Dopaminergic Neurons - metabolism | Parkinson Disease - metabolism | alpha-Synuclein - genetics | Autophagy - genetics | Glucosylceramidase - pharmacokinetics | Protein Isoforms - genetics | Index Medicus
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6. Full Text Defects in trafficking bridge Parkinson's disease pathology and genetics
by Abeliovich, Asa and Gitler, Aaron D
Nature (London), ISSN 0028-0836, 11/2016, Volume 539, Issue 7628, pp. 207 - 216
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Parkinson Disease - therapy | Inflammation - pathology | Neurons - pathology | Prions - metabolism | Glucosylceramidase - genetics | Parkinson Disease - pathology | Synaptic Vesicles - metabolism | Humans | Glucosylceramidase - metabolism | Parkinson Disease - genetics | Molecular Targeted Therapy | Endocytosis | Inflammation - metabolism | Animals | Lysosomes - metabolism | Models, Biological | Biological Transport - genetics | Neurons - metabolism | Parkinson Disease - metabolism | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 - metabolism | alpha-Synuclein - metabolism | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 - genetics | Development and progression | Genetic aspects | Parkinson's disease | Proteins | Pathology | Dopamine | Pathogenesis | Neurons | Genes | Parkinsons disease | Genetics | Genomes | Mutation | Kinases | Index Medicus
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