X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (88) 88
humans (82) 82
clinical neurology (52) 52
kufs disease (52) 52
adult (49) 49
female (47) 47
male (46) 46
kufs-disease (45) 45
neuronal ceroid-lipofuscinoses - pathology (36) 36
neuronal ceroid-lipofuscinosis (36) 36
neurosciences (36) 36
neuronal ceroid lipofuscinosis (32) 32
neuronal ceroid-lipofuscinoses - genetics (32) 32
kufs' disease (31) 31
brain - pathology (27) 27
middle aged (25) 25
dementia (24) 24
neuronal ceroid-lipofuscinoses - diagnosis (24) 24
diagnosis (23) 23
batten-disease (21) 21
epilepsy (21) 21
neurons (21) 21
mutation (20) 20
neuronal ceroid-lipofuscinoses - physiopathology (18) 18
genetic aspects (16) 16
animals (15) 15
diagnosis, differential (15) 15
pedigree (15) 15
biopsy (14) 14
microscopy, electron (13) 13
electroencephalography (12) 12
neurons - pathology (12) 12
pathology (12) 12
storage (12) 12
gene (11) 11
genetics & heredity (11) 11
mutations (11) 11
neurology (11) 11
age of onset (10) 10
article (10) 10
dominant form (10) 10
mitochondrial atp synthase (10) 10
neurodegeneration (10) 10
neuronal ceroid-lipofuscinoses (10) 10
adolescent (9) 9
biochemistry & molecular biology (9) 9
cathepsin-d deficiency (9) 9
form (9) 9
genetics (9) 9
ncl (9) 9
neuronal ceroid-lipofuscinoses - complications (9) 9
neurons - ultrastructure (9) 9
seizures (9) 9
variant (9) 9
ataxia (8) 8
batten disease (8) 8
brain - physiopathology (8) 8
deficiency (8) 8
granular osmiophilic deposits (8) 8
juvenile (8) 8
magnetic resonance imaging (8) 8
membrane proteins - genetics (8) 8
myoclonus (8) 8
neuronal ceroid-lipofuscinoses - classification (8) 8
neuronal ceroid-lipofuscinoses - metabolism (8) 8
protein (8) 8
subunit-c (8) 8
brain (7) 7
cerebral cortex - pathology (7) 7
ceroid lipofuscinosis (7) 7
child (7) 7
disorders (7) 7
dogs (7) 7
mice (7) 7
myoclonic epilepsies, progressive - genetics (7) 7
onset (7) 7
pediatrics (7) 7
phenotype (7) 7
proteins (7) 7
psychiatry (7) 7
ultrastructure (7) 7
abridged index medicus (6) 6
aged (6) 6
analysis (6) 6
biophysics (6) 6
brain - ultrastructure (6) 6
disease (6) 6
dnajc5 (6) 6
genes (6) 6
jansky-bielschowsky disease (6) 6
late-infantile (6) 6
molecular medicine (6) 6
mri (6) 6
mutation - genetics (6) 6
neuronal ceroid lipofuscinoses (6) 6
palmitoyl-protein thioesterase (6) 6
parkinson's disease (6) 6
progressive myoclonic epilepsy (6) 6
progressive myoclonus epilepsy (6) 6
young adult (6) 6
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (107) 107
French (8) 8
German (7) 7
Italian (4) 4
Spanish (4) 4
Czech (1) 1
Polish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


2011, 2nd ed., Contemporary neurology series, ISBN 019959001X, Volume 78, xxx, 444
Book
2001, Advances in genetics, ISBN 9780120176458, Volume 45, xiii, 243
This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries... 
Neuronal ceroid-lipofuscinosis | Genetic aspects | Metabolism | Disorders | Molecular cloning
Book
BBA - Molecular Basis of Disease, ISSN 0925-4439, 11/2013, Volume 1832, Issue 11, pp. 1801 - 1806
Journal Article
Journal Article
CURRENT MOLECULAR MEDICINE, ISSN 1566-5240, 2014, Volume 14, Issue 8, pp. 1043 - 1051
Neuronal Ceroid Lipofuscinoses (NCL) are genetically heterogeneous heritable neurodegenerative disorders with worldwide distribution. They are considered as... 
NCL pathogenesis | STORAGE | MEDICINE, RESEARCH & EXPERIMENTAL | CELLS | NCL epidemiology | ACTIVATION | NCL treatments | KUFS-DISEASE | PATHOLOGY | NCL genes | NCL pathology | MURINE MODEL | MOUSE MODEL | MUTATION | BATTEN-DISEASE | NCL phenotypes | EPIDEMIOLOGY
Journal Article
Journal Article
International Journal of Neuroscience, ISSN 0020-7454, 06/2018, Volume 128, Issue 6, pp. 573 - 576
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 09/2006, Volume 103, Issue 37, pp. 13854 - 13859
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2006, Volume 103, Issue 37, pp. 13854 - 13859
Mammalian CLC proteins function as Cl⁻ channels or as electrogenic exchangers and are present in the plasma membrane and intracellular vesicles. We now show... 
Axons | Brain | Nervous system diseases | Neurons | Lysosomes | Lysosomal storage diseases | Mice | Cell membranes | Genetic mutation | Endosomes | INTRACELLULAR LOCATION | channelopathy | MULTIDISCIPLINARY SCIENCES | MOUSE | acidification | MODEL | anion transport | Kufs' disease | CBS DOMAINS | CHANNEL | CLC-7 | LEADS | DENTS-DISEASE | MOLECULAR-BASIS | Batten disease | CEROID-LIPOFUSCINOSIS | Proteins | Plasma | Nervous system | Membranes | Gene expression | Rodents
Journal Article
Neurology, ISSN 0028-3878, 02/2014, Volume 82, Issue 5, pp. 405 - 411
Journal Article
Neurobiology of aging, ISSN 0197-4580, 10/2016, Volume 46, pp. 236.e1 - 236.e6
We have previously reported the whole genome genotyping analysis of two consanguineous siblings clinically diagnosed with early onset Alzheimer’s disease. In... 
Kufs disease | Exome sequencing | Early onset Alzheimer’s disease | CTSF | Recessive | Homozygosity
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 02/2015, Volume 457, Issue 3, pp. 334 - 340
Journal Article
Journal Article
Journal Article