X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (2675) 2675
Publication (291) 291
Newsletter (248) 248
Newspaper Article (78) 78
Book Review (45) 45
Book Chapter (41) 41
Conference Proceeding (25) 25
Book / eBook (17) 17
Dissertation (11) 11
Government Document (5) 5
Magazine Article (5) 5
Web Resource (4) 4
Reference (3) 3
Transcript (3) 3
Data Set (1) 1
Streaming Video (1) 1
Trade Publication Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (1648) 1648
neuronal ceroid-lipofuscinosis (1399) 1399
animals (970) 970
index medicus (854) 854
neuronal ceroid-lipofuscinoses - genetics (720) 720
male (686) 686
female (656) 656
neuronal ceroid lipofuscinosis (631) 631
neuronal ceroid-lipofuscinoses - pathology (565) 565
neurosciences (497) 497
child (481) 481
genetics & heredity (481) 481
clinical neurology (434) 434
mice (433) 433
biochemistry & molecular biology (429) 429
mutation (409) 409
neuronal ceroid-lipofuscinoses - metabolism (347) 347
child, preschool (337) 337
batten disease (328) 328
adult (325) 325
batten-disease (317) 317
disease models, animal (316) 316
neurons (303) 303
neuronal ceroid-lipofuscinoses - diagnosis (290) 290
neurodegeneration (286) 286
adolescent (285) 285
disease (275) 275
brain - pathology (267) 267
genetic aspects (263) 263
mutations (246) 246
research (244) 244
brain (236) 236
medical research (234) 234
neuronal ceroid-lipofuscinoses - physiopathology (231) 231
mouse model (226) 226
infant (225) 225
proteins (223) 223
analysis (216) 216
medicine, experimental (216) 216
pediatrics (210) 210
gene (203) 203
membrane proteins - genetics (201) 201
article (195) 195
nervous system diseases (193) 193
protein (192) 192
cell biology (189) 189
pathology (188) 188
medicine, research & experimental (183) 183
dogs (179) 179
phenotype (177) 177
neurology (176) 176
mice, knockout (168) 168
cln3 (165) 165
enzymes (165) 165
neuronal ceroid-lipofuscinoses - enzymology (157) 157
lysosomal storage disease (154) 154
mitochondrial atp synthase (154) 154
molecular sequence data (152) 152
mice, inbred c57bl (151) 151
brain - metabolism (148) 148
microscopy, electron (143) 143
genes (139) 139
genetics (138) 138
membrane glycoproteins - genetics (134) 134
storage (133) 133
diagnosis (131) 131
molecular chaperones - genetics (129) 129
epilepsy (128) 128
lysosomes - metabolism (128) 128
children (127) 127
neuronal ceroid-lipofuscinoses - veterinary (125) 125
magnetic resonance imaging (123) 123
research article (122) 122
pedigree (120) 120
central-nervous-system (119) 119
subunit-c (119) 119
neuronal ceroid-lipofuscinoses (118) 118
amino acid sequence (117) 117
gene therapy (117) 117
cells, cultured (116) 116
ncl (116) 116
seizures (113) 113
neuronal ceroid-lipofuscinoses - complications (112) 112
dipeptidyl-peptidases and tripeptidyl-peptidases (111) 111
sheep (111) 111
aminopeptidases (110) 110
expression (110) 110
medicine (109) 109
serine proteases (109) 109
middle aged (108) 108
neurons - pathology (108) 108
neurons - metabolism (101) 101
nervous system (100) 100
lysosomes (99) 99
gene expression (95) 95
neurodegenerative diseases (94) 94
palmitoyl-protein thioesterase (94) 94
care and treatment (93) 93
immunohistochemistry (93) 93
multidisciplinary sciences (92) 92
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (15) 15
Online Resources - Online (4) 4
Collection Dvlpm't (Acquisitions) - Closed Orders (3) 3
Gerstein Science - Reference (1) 1
Scarborough Hospital - General (1) 1
UTL at Downsview - May be requested (1) 1
UofT at Mississauga - Missing (1) 1
UofT at Mississauga - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (2914) 2914
German (39) 39
French (37) 37
Spanish (29) 29
Japanese (24) 24
Portuguese (10) 10
Czech (7) 7
Polish (7) 7
Chinese (6) 6
Turkish (4) 4
Dutch (3) 3
Italian (3) 3
Russian (3) 3
Finnish (2) 2
Danish (1) 1
Norwegian (1) 1
Serbian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, p. 19
Background: To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the... 
NCL Genes | Italy | Childhood NCL | Epidemiology | MEDICINE, RESEARCH & EXPERIMENTAL | CLN1 GENE | WEST | BATTEN-DISEASE | PATIENT | MUTATIONS | Molecular Epidemiology | Humans | Female | Italy - epidemiology | Male | Child | Neuronal Ceroid-Lipofuscinoses - epidemiology | Cohort Studies
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2015, Volume 10, Issue 3, p. e0118956
Journal Article
Experimental Eye Research, ISSN 0014-4835, 11/2016, Volume 152, pp. 77 - 87
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2012, Volume 7, Issue 4, p. e35493
Variant late-infantile neuronal ceroid lipofuscinosis, a fatal lysosomal storage disorder accompanied by regional atrophy and pronounced neuron loss in the... 
ACTIVATION | UNFOLDED PROTEIN RESPONSE | STORAGE DISEASE | MULTIDISCIPLINARY SCIENCES | DEGRADATION | NEURODEGENERATION | MUTATIONS | CLN6 | TRANSMEMBRANE PROTEIN | CELL-DEATH | Neuronal Ceroid-Lipofuscinoses - physiopathology | Autophagy | Recombinant Fusion Proteins - metabolism | Neuronal Ceroid-Lipofuscinoses - pathology | Atrophy | Lysosomes - metabolism | Proteolysis | Membrane Proteins - metabolism | Ubiquitinated Proteins - metabolism | Disease Models, Animal | Green Fluorescent Proteins - metabolism | Olfactory Bulb - pathology | Membrane Proteins - genetics | Cerebellum - metabolism | Neuronal Ceroid-Lipofuscinoses - metabolism | Hippocampus - pathology | Unfolded Protein Response | Cerebellum - pathology | Transcription Factors - metabolism | Hippocampus - metabolism | Astrocytes - physiology | Animals | Endoplasmic Reticulum Stress | Mice | Mutagenesis, Insertional | Proteasome Endopeptidase Complex - metabolism | Astrocytes - metabolism | Proteins | Brain | Genetic aspects | Models | Neurons | Analysis | Cerebellum | Neurosciences | Neuropathology | Pathogenesis | Lysosomes | Phagosomes | Nervous system | Biochemistry | Phosphatase | Degradation | Neurodegeneration | Purkinje cells | Protein folding | Thalamus | Neuronal ceroid lipofuscinosis | Age | Enzymes | Cortex | Protein biosynthesis | Radioactive half-life | Membrane proteins | Children & youth | Brain research | Gliosis | Storage | Microscopy | Proteasomes | Olfactory bulb | Mutation | Disruption | Endoplasmic reticulum | Phagocytosis
Journal Article