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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
Pathogenic variants in the glucocerebrosidase gene (GBA) encoding the enzyme deficient in Gaucher's disease (GD) are associated with Parkinson's disease (PD).... 
ASHKENAZI-JEWS | BIOCHEMISTRY & MOLECULAR BIOLOGY | SUSCEPTIBILITY | GBA | GENETICS & HEREDITY | EARLY-ONSET | RISK | LRRK2 MUTATION | ASSOCIATION | 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 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
Objective: To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD). Methods: We administered a... 
MINI-MENTAL-STATE | MULTICENTER | DEMENTIA | RISK | ALPHA-SYNUCLEIN | GLUCOCEREBROSIDASE MUTATIONS | EXPRESSION | PROGRESSION | CLINICAL NEUROLOGY | PARKINSONS-DISEASE | IMPAIRMENT | 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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3. Full Text Gene expression of sphingolipid metabolism pathways is altered in hidradenitis suppurativa
by Dany, Mohammed and Elston, Dirk
Journal of the American Academy of Dermatology, ISSN 0190-9622, 08/2017, Volume 77, Issue 2, pp. 268 - 273.e6
Hidradenitis suppurativa (HS) is a debilitating skin disease characterized by painful recurrent nodules and abscesses caused by chronic inflammation. Early... 
perilipin | ceramide | hidradenitis suppurativa | hexosylceramide | sphingolipids | lipid metabolism | PROTEIN | DISEASE | SKIN | ACCUMULATION | DEFICIENCY | DERMATOLOGY | Sphingolipids - biosynthesis | Lysophospholipids - metabolism | Sphingomyelin Phosphodiesterase - genetics | Glucosylceramidase - genetics | Humans | Serine C-Palmitoyltransferase - genetics | Case-Control Studies | Cyclic AMP-Dependent Protein Kinases - genetics | Hidradenitis Suppurativa - genetics | Tumor Suppressor Proteins - genetics | Perilipins - genetics | Sphingosine - metabolism | Glucosyltransferases - genetics | Gene Expression | Ceramides - metabolism | Sphingomyelins - metabolism | Membrane Proteins - genetics | Phosphotransferases (Alcohol Group Acceptor) - genetics | Sphingolipids - metabolism | Hidradenitis Suppurativa - enzymology | Signal Transduction - genetics | Skin - enzymology | Alkaline Ceramidase - genetics | Hexosaminidases - genetics | Metabolic Networks and Pathways - genetics | Sphingosine - analogs & derivatives | Sphingosine N-Acyltransferase - genetics | Glycosphingolipids - metabolism | Physiological aspects | Membrane lipids | Skin diseases | Sphingolipids | Skin | Gene expression | Enzymes | Analysis | Genes | Sphingosine | Genetic research | Index Medicus
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4. 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
Abstract GBA1 encodes the lysosomal enzyme β-glucocerebrosidase (GCase) which converts glucosylceramide into ceramide and glucose. Mutations in GBA1 lead to... 
RISK-FACTOR | UNCONVENTIONAL SECRETORY PATHWAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | ACYL-CHAIN LENGTH | ENZYME-SECRETION | SALVAGE PATHWAY | GLUCOCEREBROSIDASE MUTATIONS | RAB GTPASES | GAUCHER-DISEASE | PARKINSONS-DISEASE | 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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5. Full Text Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease
by Robak, Laurie A and Jansen, Iris E and Rooij, Jeroen van and Uitterlinden, André G and Kraaij, Robert and Jankovic, Joseph and Heutink, Peter and Shulman, Joshua M and Nalls, Mike A and Plagnol, Vincent and Hernandez, Dena G and Sharma, Manu and Sheerin, Una-Marie and Saad, Mohamad and Simón-Sánchez, Javier and Schulte, Claudia and Lesage, Suzanne and Sveinbjörnsdóttir, Sigurlaug and Arepalli, Sampath and Barker, Roger and Ben, Yoav and Berendse, Henk W and Berg, Daniela and Bhatia, Kailash and de Bie, Rob M. A and Biffi, Alessandro and Bloem, Bas and Bochdanovits, Zoltan and Bonin, Michael and Bras, Jose M and Brockmann, Kathrin and Brooks, Janet and Burn, David J and Majounie, Elisa and Charlesworth, Gavin and Lungu, Codrin and Chen, Honglei and Chinnery, Patrick F and Chong, Sean and Clarke, Carl E and Cookson, Mark R and Cooper, J. Mark and Corvol, Jean Christophe and Counsell, Carl and Damier, Philippe and Dartigues, Jean-François and Deloukas, Panos and Deuschl, Günther and Dexter, David T and van Dijk, Karin D and Dillman, Allissa and Durif, Frank and Dürr, Alexandra and Edkins, Sarah and Evans, Jonathan R and Foltynie, Thomas and Dong, Jing and Gardner, Michelle and Gibbs, J. Raphael and Goate, Alison and Gray, Emma and Guerreiro, Rita and Harris, Clare and van Hilten, Jacobus J and Hofman, Albert and Hollenbeck, Albert and Holton, Janice and Hu, Michele and Huang, Xuemei and Wurster, Isabel and Mätzler, Walter and Hudson, Gavin and Hunt, Sarah E and Huttenlocher, Johanna and Illig, Thomas and Jónsson, Pálmi V and Lambert, Jean-Charles and Langford, Cordelia and Lees, Andrew and Lichtner, Peter and Limousin, Patricia and Lopez, Grisel and Lorenz, Delia and Lungu, Codrin and McNeill, Alisdair and Moorby, Catriona and Moore, Matthew and Morris, Huw R and Morrison, Karen E and Escott-Price, Valentina and Mudanohwo, Ese and O’sullivan, Sean S and Pearson, Justin and Perlmutter, Joel S and Pétursson, Hjörvar and Pollak, Pierre and Post, Bart and Potter, Simon and Ravina, Bernard and Revesz, Tamas and ... and IPDGC and International Parkinson’s Disease Genomics Consortium (IPDGC)
Brain, ISSN 0006-8950, 12/2017, Volume 140, Issue 12, pp. 3191 - 3203
Mutations in the GBA gene, which cause Gaucher disease, are also risk factors for Parkinson's disease. Leveraging sequencing data from a large cohort of... 
genetics | Parkinson's disease | lysosomal storage disorders | whole exome sequencing | CHAPERONE-MEDIATED AUTOPHAGY | MUTATION CARRIERS | AMYOTROPHIC-LATERAL-SCLEROSIS | ALPHA-SYNUCLEIN | NEUROSCIENCES | P.L302P MUTATION | CLINICAL NEUROLOGY | GAUCHER-DISEASE | GLUCOCEREBROSIDASE GENE | MISSING HERITABILITY | SEQUENCING DATA | GENOME-WIDE ASSOCIATION | Sphingomyelin Phosphodiesterase - genetics | Genetic Predisposition to Disease | Glucosylceramidase - genetics | Acid Ceramidase - genetics | Humans | Middle Aged | Lysosomal Storage Diseases - genetics | Genotype | Male | Parkinson Disease - genetics | Case-Control Studies | Exome | Organic Anion Transporters - genetics | Symporters - genetics | Cathepsin D - genetics | Aged, 80 and over | Adult | Female | Aged | Mutation | Cohort Studies | Index Medicus | Abridged Index Medicus
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6. Full Text Large-scale exploratory genetic analysis of cognitive impairment in Parkinson's disease
by Mata, Ignacio F and Johnson, Catherine O and Leverenz, James B and Weintraub, Daniel and Trojanowski, John Q and Van Deerlin, Vivianna M and Ritz, Beate and Rausch, Rebecca and Factor, Stewart A and Wood-Siverio, Cathy and Quinn, Joseph F and Chung, Kathryn A and Peterson-Hiller, Amie L and Espay, Alberto J and Revilla, Fredy J and Devoto, Johnna and Yearout, Dora and Hu, Shu-Ching and Cholerton, Brenna A and Montine, Thomas J and Edwards, Karen L and Zabetian, Cyrus P
Neurobiology of Aging, ISSN 0197-4580, 08/2017, Volume 56, pp. 211.e1 - 211.e7
Cognitive impairment is a common and disabling problem in Parkinson's disease (PD). Identification of genetic variants that influence the presence or severity... 
Genetics | Parkinson's disease | NeuroX | Cognitive impairment | DEMENTIA | PERFORMANCE | SUSCEPTIBILITY | ALPHA-SYNUCLEIN | NEUROSCIENCES | GBA MUTATION | DECLINE | GERIATRICS & GERONTOLOGY | COHORT | APOE | OCTOPUS-VULGARIS | PROGRESSION | Severity of Illness Index | Glucosylceramidase - genetics | Apolipoprotein E4 - genetics | Humans | Middle Aged | Genetic Association Studies - methods | Genotype | Male | Parkinson Disease - genetics | Catechol O-Methyltransferase - genetics | Parkinson Disease - psychology | Neuropsychological Tests | tau Proteins - genetics | Aged, 80 and over | Cognitive Dysfunction - psychology | Cognitive Dysfunction - genetics | Female | Aged | Genetic Variation - genetics | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 - genetics | Cohort Studies | Language processing | Analysis | Natural language interfaces | Genetic research | Disease susceptibility | Genetic aspects | Computational linguistics | Index Medicus
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7. Full Text Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice
by Dahl, Maria and Doyle, Alexander and Olsson, Karin and Månsson, Jan-Eric and Marques, André R A and Mirzaian, Mina and Aerts, Johannes M and Ehinger, Mats and Rothe, Michael and Modlich, Ute and Schambach, Axel and Karlsson, Stefan and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin and Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine and Sahlgrenska Academy
Molecular Therapy, ISSN 1525-0016, 05/2015, Volume 23, Issue 5, pp. 835 - 844
Gaucher disease is caused by an inherited deficiency of the enzyme glucosylceramidase. Due to the lack of a fully functional enzyme, there is progressive... 
MEDICINE, RESEARCH & EXPERIMENTAL | CHRONIC GRANULOMATOUS-DISEASE | HEMATOPOIETIC-CELLS | GLUCOCEREBROSIDASE | BONE-MARROW TRANSPLANTATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | IN-VIVO | MOUSE MODEL | GENETICS & HEREDITY | CD68 | ENZYME REPLACEMENT THERAPY | RETROVIRAL VECTOR | EXPRESSION | Genetic Therapy | Glucosylceramidase - genetics | Humans | Gaucher Disease - therapy | Antigens, CD - genetics | Organ Specificity - genetics | Lentivirus - genetics | Transgenes | Gene Order | Disease Models, Animal | Gene Transfer Techniques | Promoter Regions, Genetic | Gene Expression | Transduction, Genetic | Gaucher Disease - metabolism | Glucosylceramidase - metabolism | Virus Integration | Antigens, Differentiation, Myelomonocytic - genetics | Genetic Vectors - genetics | Mice, Knockout | Macrophages - metabolism | Phenotype | Animals | Gaucher Disease - genetics | Mice | Enzyme Activation | Index Medicus | Original | Microbiology | Mikrobiologi | Genetics & Heredity | Biotechnology & Applied Microbiology | Medicine | Research & Experimental | ENZYME | REPLACEMENT THERAPY
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8. Full Text The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease
by Duran, Raquel and Mencacci, Niccolo E and Angeli, Aikaterini V and Shoai, Maryam and Deas, Emma and Houlden, Henry and Mehta, Atul and Hughes, Derralynn and Cox, Timothy M and Deegan, Patrick and Schapira, Anthony H and Lees, Andrew J and Limousin, Patricia and Jarman, Paul R and Bhatia, Kailash P and Wood, Nicholas W and Hardy, John and Foltynie, Tom
Movement Disorders, ISSN 0885-3185, 02/2013, Volume 28, Issue 2, pp. 232 - 236
Background Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder,... 
Parkinson's disease | early onset | E326K | GBA | Gaucher's disease | Early onset | METAANALYSIS | GENOTYPE | SUSCEPTIBILITY | PHENOTYPE | IDENTIFICATION | GLUCOCEREBROSIDASE MUTATIONS | CARRIERS | LOCUS | CLINICAL NEUROLOGY | GENE | ONSET | Glucosylceramidase - genetics | Humans | Middle Aged | Databases, Genetic | Molecular Sequence Data | Male | Leukocytes - enzymology | Young Adult | Lewy Body Disease - genetics | Parkinson Disease - epidemiology | Adult | Female | Gene Frequency | Lewy Body Disease - pathology | Protein-Serine-Threonine Kinases - genetics | Gaucher Disease - epidemiology | European Continental Ancestry Group | Exons - genetics | Parkinson Disease - genetics | Mutation - genetics | Open Reading Frames - genetics | Sequence Analysis, DNA | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | DNA - genetics | Gaucher Disease - genetics | Age of Onset | Ubiquitin-Protein Ligases - genetics | United Kingdom - epidemiology | Parkinsons disease | Mutation | Index Medicus
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9. Full Text Do polymorphisms in the familial parkinsonism genes contribute to risk for sporadic Parkinson's disease?
by Sutherland, Greg T and Halliday, Glenda M and Silburn, Peter A and Mastaglia, Frank L and Rowe, Dominic B and Boyle, Richard S and O'Sullivan, John D and Ly, Tina and Wilton, Steven D and Mellick, George D
Movement Disorders, ISSN 0885-3185, 04/2009, Volume 24, Issue 6, pp. 833 - 838
Recent whole genome association studies provided little evidence that polymorphisms at the familial Parkinsonism loci influence the risk for Parkinson's... 
PD-related genes | Association | Parkinson's disease | METAANALYSIS | LRRK2 | SUSCEPTIBILITY | HAPLOTYPES | association | MAPT H1 | TAU | NACP-REP1 | ALPHA-SYNUCLEIN | CLINICAL NEUROLOGY | LINKAGE DISEQUILIBRIUM | Oncogene Proteins - genetics | Glucosylceramidase - genetics | Protein Kinases - genetics | Humans | Male | Mitochondrial Proteins - genetics | Proton-Translocating ATPases - genetics | tau Proteins - genetics | Serine Endopeptidases - genetics | Female | Parkinsonian Disorders - genetics | Retrospective Studies | alpha-Synuclein - genetics | Intracellular Signaling Peptides and Proteins - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Gene Frequency | Protein-Serine-Threonine Kinases - genetics | Genotype | Parkinson Disease - genetics | Ubiquitin Thiolesterase - genetics | Australia - epidemiology | High-Temperature Requirement A Serine Peptidase 2 | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Protein Deglycase DJ-1 | Polymorphism, Genetic - genetics | Aged | Ubiquitin-Protein Ligases - genetics | Index Medicus | Eskitis Cell and Molecular Therapies | 110904 | Neurology and Neuromuscular Diseases | Science, Environment, Engineering and Technology
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10. Full Text Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece
by Kalinderi, Kallirhoe and Bostantjopoulou, Sevasti and Paisan-Ruiz, Coro and Katsarou, Zoe and Hardy, John and Fidani, Liana
Neuroscience Letters, ISSN 0304-3940, 03/2009, Volume 452, Issue 2, pp. 87 - 89
Mutations in β-glucocerebrosidase gene ( ) have been implicated in Parkinson disease (PD). A Greek cohort of 172 PD patients and 132 control individuals were... 
GBA mutations | Glucocerebrosidase | Parkinson's disease | NEUROSCIENCES | GAUCHER-DISEASE | Base Sequence - genetics | Genetic Predisposition to Disease - genetics | Glucosylceramidase - genetics | Genetic Testing | Gene Frequency | Humans | Middle Aged | Exons - genetics | Genotype | Male | Parkinson Disease - genetics | Mutation - genetics | Greece | Gaucher Disease - genetics | DNA Mutational Analysis | Genetic Markers - genetics | Parkinson Disease - enzymology | Age of Onset | Female | Aged | Genetic Variation - genetics | Parkinson Disease - ethnology | Gaucher Disease - enzymology | Enzymes | Hydrolases | Neurosciences | Genetic aspects | Index Medicus | Age
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11. Full Text Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
by Mechtler, Thomas P, MD and Stary, Susanne, PhD and Metz, Thomas F, MSc and De Jesús, Víctor R, PhD and Greber-Platzer, Susanne, MD and Pollak, Arnold, Prof and Herkner, Kurt R, PhD and Streubel, Berthold, Prof and Kasper, David C, PhD
Lancet, The, ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Summary Background The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement... 
Internal Medicine | POMPE-DISEASE | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | THERAPY | ASSAY | METABOLISM | FABRY-DISEASE | TANDEM MASS-SPECTROMETRY | DRIED BLOOD SPOTS | KRABBE-DISEASE | INBORN-ERRORS | alpha-Galactosidase - genetics | Sphingomyelin Phosphodiesterase - genetics | Glucosylceramidase - genetics | Fabry Disease - genetics | Glucosylceramidase - blood | Humans | Male | Neonatal Screening | Incidence | Lysosomal Storage Diseases - diagnosis | Female | Niemann-Pick Diseases - diagnosis | Niemann-Pick Diseases - genetics | Infant, Newborn | alpha-Glucosidases - blood | Glycogen Storage Disease Type II - genetics | Lysosomal Storage Diseases - epidemiology | Austria - epidemiology | Lysosomal Storage Diseases - genetics | alpha-Galactosidase - blood | alpha-Glucosidases - genetics | Gaucher Disease - genetics | Glycogen Storage Disease Type II - diagnosis | Mutation | Fabry Disease - diagnosis | Gaucher Disease - diagnosis | Sphingomyelin Phosphodiesterase - blood | Metabolism, Inborn errors of | Infants (Newborn) | Usage | Medical examination | Diagnosis | Research | Babies | Quality control | Cystic fibrosis | Medical screening | Metabolism | Disease control | Blood | Metabolic disorders | Index Medicus | Abridged Index Medicus
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