X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (303) 303
Publication (72) 72
Book Review (36) 36
Patent (34) 34
Conference Proceeding (33) 33
Book Chapter (9) 9
Book / eBook (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (165) 165
humans (153) 153
genetics & heredity (94) 94
glucocerebrosidase (86) 86
gaucher disease (81) 81
glucosylceramidase - genetics (74) 74
gaucher disease - genetics (68) 68
medicine, research & experimental (66) 66
mutation (64) 64
male (60) 60
article (58) 58
biochemistry & molecular biology (54) 54
female (49) 49
enzymes (42) 42
parkinson's disease (40) 40
mutations (38) 38
chemistry (36) 36
genotype (34) 34
metallurgy (34) 34
adult (33) 33
animals (33) 33
organic chemistry (33) 33
phenotype (33) 33
gaucher-disease (32) 32
alpha-synuclein (31) 31
human necessities (31) 31
hygiene (31) 31
medical or veterinary science (31) 31
preparations for medical, dental, or toilet purposes (31) 31
specific therapeutic activity of chemical compounds ormedicinal preparations (31) 31
glucosylceramidase - metabolism (29) 29
middle aged (29) 29
gaucher disease - enzymology (28) 28
parkinson disease - genetics (28) 28
gaucher's disease (27) 27
heterocyclic compounds (27) 27
endocrinology & metabolism (25) 25
abridged index medicus (24) 24
gaucher disease - pathology (24) 24
mice (24) 24
aged (23) 23
hydrolases (23) 23
risk factors (23) 23
adolescent (21) 21
child (21) 21
genetic aspects (21) 21
glucocerebrosidase gene (21) 21
infant (21) 21
nervous system diseases (21) 21
parkinson disease (21) 21
clinical neurology (20) 20
enzyme replacement therapy (20) 20
gene (20) 20
neurosciences (20) 20
dna mutational analysis (19) 19
lysosomal storage disorders (19) 19
parkinsonism (19) 19
parkinsons-disease (18) 18
alleles (17) 17
gaucher disease - complications (17) 17
gaucher disease - metabolism (17) 17
acid beta-glucosidase (16) 16
child, preschool (16) 16
genetics (16) 16
alpha-synuclein - metabolism (15) 15
medical genetics (15) 15
mutation - genetics (15) 15
parkinsonian disorders - genetics (15) 15
gaucher disease - diagnosis (14) 14
gaucher disease - drug therapy (14) 14
research (14) 14
analysis (13) 13
disease (13) 13
gaucher disease - classification (13) 13
genetic predisposition to disease (13) 13
pediatrics (13) 13
association (12) 12
brain - metabolism (12) 12
health aspects (12) 12
medical research (12) 12
pathology (12) 12
polymerase chain reaction (12) 12
targeted disruption (12) 12
α-synuclein (12) 12
cells, cultured (11) 11
congenital, hereditary, and neonatal diseases and abnormalities (11) 11
gaucher disease - physiopathology (11) 11
identification (11) 11
infant, newborn (11) 11
parkinsons disease (11) 11
care and treatment (10) 10
case-control studies (10) 10
diagnosis (10) 10
expression (10) 10
glucosylceramidase (10) 10
glucosylceramidase - antagonists & inhibitors (10) 10
hematology (10) 10
heterozygote (10) 10
jews - genetics (10) 10
lysosomal storage disorder (10) 10
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (344) 344
French (9) 9
German (4) 4
Spanish (3) 3
Chinese (1) 1
Danish (1) 1
Hungarian (1) 1
Korean (1) 1
Polish (1) 1
Portuguese (1) 1
Russian (1) 1
Slovenian (1) 1
Turkish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2014, Volume 111, Issue 7, pp. 2626 - 2631
Mutations in leucine-rich repeat kinase 2 (LRRK2) cause inherited Parkinson disease (PD), and common variants around LRRK2 are a risk factor for sporadic PD.... 
Proteins | Neurites | Transfection | Neurons | Medical genetics | Parkinson disease | Disease risk | Genetic loci | Gene expression regulation | Genetic mutation | GAK | Trans-Golgi | BAG5 | Autophagy | RECRUITMENT | autophagy | PROTEIN | VARIANTS | LRRK2 | MULTIDISCIPLINARY SCIENCES | SEQUENCE | trans-Golgi | CLATHRIN | Cell Fractionation | Immunoprecipitation | Humans | Genetic Loci - genetics | Multiprotein Complexes - genetics | DNA Primers - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Brain - metabolism | Multiprotein Complexes - metabolism | Mass Spectrometry | HEK293 Cells | Plasmids - genetics | Golgi Apparatus - ultrastructure | Protein-Serine-Threonine Kinases - metabolism | rab GTP-Binding Proteins - metabolism | Genetic Predisposition to Disease - genetics | Protein-Serine-Threonine Kinases - genetics | Blotting, Western | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Microscopy, Confocal | Protein Interaction Mapping - methods | Analysis of Variance | Transport Vesicles - metabolism | Parkinson Disease - enzymology | Adaptor Proteins, Signal Transducing - metabolism | Genome-Wide Association Study - methods | Genetic aspects | Parkinson's disease | Leucine | Gene mutations | Health aspects | Phosphotransferases | Mutation | Kinases | Genes | Parkinsons disease | Index Medicus | Biological Sciences
Journal Article
Molecular genetics and metabolism, 08/2019
Journal Article
JAMA Neurology, ISSN 2168-6149, 06/2013, Volume 70, Issue 6, pp. 727 - 735
Journal Article
中国神经再生研究:英文版, ISSN 1673-5374, 2016, Volume 11, Issue 11, pp. 1760 - 1761
Gaucher disease (GD) is a lysosomal storage disorder (LSD) affecting approximately 1 in 50,000 individuals in the general population. Mutations in both alleles... 
葡萄糖 | 溶酶体 | 基因突变 | 帕金森病 | NEURONS | ALPHA-SYNUCLEIN | NEUROSCIENCES | CELL BIOLOGY | Enzymes | Care and treatment | Usage | Parkinson's disease | Analysis | Hydrolases | Research | Diagnosis | Gangliosides | Health aspects | Risk factors | Gaucher's disease
Journal Article
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 02/2018, Volume 68, pp. 3 - 3
Journal Article
by Lesage, Suzanne and Drouet, Valérie and Majounie, Elisa and Deramecourt, Vincent and Jacoupy, Maxime and Nicolas, Aude and Cormier-Dequaire, Florence and Hassoun, Sidi Mohamed and Pujol, Claire and Ciura, Sorana and Erpapazoglou, Zoi and Usenko, Tatiana and Maurage, Claude-Alain and Sahbatou, Mourad and Liebau, Stefan and Ding, Jinhui and Bilgic, Basar and Emre, Murat and Erginel-Unaltuna, Nihan and Guven, Gamze and Tison, François and Tranchant, Christine and Vidailhet, Marie and Corvol, Jean Christophe and Corvol, Jean-Christophe and Krack, Paul and Leutenegger, Anne-Louise and Nalls, Michael A and Hernandez, Dena G and Heutink, Peter and Gibbs, J. Raphael and Hardy, John and Wood, Nicholas W and Gasser, Thomas and Durr, Alexandra and Deleuze, Jean-François and Tazir, Meriem and Destée, Alain and Lohmann, Ebba and Kabashi, Edor and Singleton, Andrew B and Singleton, Andrew and Corti, Olga and Brice, Alexis and Agid, Yves and Anheim, Mathieu and Bonnet, Anne-Marie and Borg, Michel and Broussolle, Emmanuel and Damier, Philippe and Dürr, Alexandra and Durif, Frank and Durif, Franck and Klebe, Stephan and Martinez, María and Martinez, Maria and Pollak, Pierre and Rascol, Olivier and Vérin, Marc and Viallet, François and Arepalli, Sampath and Barker, Roger A and Ben-Shlomo, Yoav and Berg, Daniela and Bettella, Francesco and Bhatia, Kailash and de Bie, Rob M.A and Biffi, Alessandro and Bloem, Bastiaan R and Bochdanovits, Zoltan and Bonin, Michael and Bras, Jose M and Brockmann, Kathrin and Brooks, Janet and Burn, David J and Charlesworth, Gavin and Chen, Honglei and Chinnery, Patrick F and Chong, Sean and Clarke, Carl E and Cookson, Mark R and Counsell, Carl and Dartigues, Jean-François and Deloukas, Panos and Deuschl, Günther and Dexter, David T and van Dijk, Karin D and Dillman, Allissa and Dong, Jing and Edkins, Sarah and Escott-Price, Valentina and Evans, Jonathan R and Foltynie, Thomas and Gao, Jianjun and Gardner, Michelle and Goate, Alison and Gray, Emma and Guerreiro, Rita and Harris, Clare and van Hilten, Jacobus J and ... and French Parkinson's Disease Genetics Study (PDG) and International Parkinson's Disease Genomics Consortium (IPDGC)
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 500 - 513
Journal Article
Journal Article
Current opinion in neurology, ISSN 1350-7540, 06/2019, Volume 32, Issue 4, pp. 589 - 596
GBA1 mutations, which result in the lysosomal disorder Gaucher disease, are the most common known genetic risk factor for Parkinson disease and Dementia with... 
GBA MUTATION CARRIERS | CONTROLLED-TRIAL | DEMENTIA | Parkinson disease | RISK | alpha-synuclein | CHAPERONE | GLUCOCEREBROSIDASE MUTATIONS | NEUROSCIENCES | glucocerebrosidase | CLINICAL NEUROLOGY | GAUCHER-DISEASE | CELL-DEATH | Gaucher disease | chaperone therapy | AMBROXOL
Journal Article
The Journal of biological chemistry, ISSN 0021-9258, 06/2019, Volume 294, Issue 25, pp. 9973 - 9984
A pathological feature of Parkinson's disease (PD) is Lewy bodies (LBs) composed of α-synuclein (α-syn) amyloid fibrils. α-Syn is a 140 amino acids-long... 
Protein Structure and Folding | amyloid | protein aggregation | cysteine cathepsin | proteolytic processing | transmission electron microscopy | lysosome | alpha-synuclein (α-synuclein) | mass spectrometry (MS) | electron microscopy (EM) | Lewy body
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2007, Volume 92, Issue 4, pp. 15 - 15
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 12/2007, Volume 92, Issue 4, pp. 15 - 15
Journal Article
by Plagnol, Vincent and Nalls, Michael A and Bras, Jose M and Hernandez, Dena G and Sharma, Manu and Sheerin, Una-Marie and Saad, Mohamad and Simon-Sanchez, Javier and Schulte, Claudia and Lesage, Suzanne and Sveinbjornsdottir, Sigurlaug and Amouyel, Philippe and Arepalli, Sampath and Band, Gavin and Barker, Roger A and Bellinguez, Celine and Ben-Shlomo, Yoav and Berendse, Henk W and Berg, Daniela and Bhatia, Kailash and de Bie, Rob M. A and Biffi, Alessano and Bloem, Bas and Bochdanovits, Zoltan and Bonin, Michael and Brockmann, Kathrin and Brooks, Janet and Burn, David J and Charlesworth, Gavin 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-Francois and Deloukas, Panos and Deuschl, Guenther and Dexter, David T and van Dijk, Karin D and Dillman, Allissa and Durif, Frank and Duerr, Alexana and Edkins, Sarah and Evans, Jonathan R and Foltynie, Thomas and Freeman, Colin and Gao, Jianjun and Gardner, Michelle and Gibbs, J. Raphael and Goate, Alison and Gray, Emma and Guerreiro, Rita and Gustafsson, Omar and Harris, Clare and Hellenthal, Garrett and van Hilten, Jacobus J and Hofman, Albert and Hollenbeck, Albert and Holton, Janice and Hu, Michele and Huang, Xuemei and Huber, Heiko and Hudson, Gavin and Hunt, Sarah E and Huttenlocher, Johanna and Illig, Thomas and Jonsson, Palmi V and Langford, Cordelia and Lees, Anew and Lichtner, Peter and Limousin, Patricia and Lopez, Grisel and Lorenz, Delia and McNeill, Alisdair and Moorby, Catriona and Moore, Matthew and Morris, Huw and Morrison, Karen E and Mudanohwo, Ese and O'Sullivan, Sean S and Pearson, Justin and Pearson, Richard and Perlmutter, Joel S and Petursson, Hjoervar and Pirinen, Matti and Pollak, Pierre and Post, Bart and Potter, Simon and Ravina, Bernard and Revesz, Tamas and Riess, Olaf and Rivadeneira, Fernando and Rizzu, Patrizia and Ryten, Mina and Sawcer, Stephen and Schapira, Anthony and ... and WTCCC2 and Wellcome Trust Case Control Consortium 2 (WTCCC2) and International Parkinson's Disease Genomics Consortium (IPDGC)
PLoS genetics, ISSN 1553-7390, 2011, Volume 7, Issue 6, pp. e1002142 - e1002142
Journal Article