X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (60) 60
humans (56) 56
female (32) 32
male (32) 32
adult (24) 24
genetics & heredity (23) 23
clinical neurology (14) 14
middle aged (14) 14
mutation (14) 14
abridged index medicus (12) 12
disease (11) 11
adolescent (10) 10
article (10) 10
child (10) 10
diagnosis (10) 10
genetic aspects (10) 10
infant (10) 10
mice (10) 10
pedigree (10) 10
phenotype (9) 9
research (9) 9
aged (8) 8
animals (8) 8
biochemistry & molecular biology (8) 8
genetics (8) 8
mutations (8) 8
neuronal ceroid-lipofuscinoses - genetics (8) 8
neurosciences (8) 8
young adult (8) 8
case studies (7) 7
enzyme replacement therapy (7) 7
enzymes (7) 7
gene (7) 7
molecular sequence data (7) 7
proteins (7) 7
amyotrophic lateral sclerosis (6) 6
base sequence (6) 6
blindness - genetics (6) 6
genes (6) 6
genetic research (6) 6
heterozygote (6) 6
neurology (6) 6
prevalence (6) 6
age of onset (5) 5
analysis (5) 5
child, preschool (5) 5
diagnosis, differential (5) 5
dna mutational analysis (5) 5
epilepsy (5) 5
genetic testing (5) 5
infant, newborn (5) 5
medicine, research & experimental (5) 5
monoamine oxidase - genetics (5) 5
mutation - genetics (5) 5
neuronal ceroid lipofuscinosis (5) 5
neuronal ceroid-lipofuscinoses - pathology (5) 5
neuronal ceroid-lipofuscinosis (5) 5
neurons - metabolism (5) 5
norrie disease (5) 5
risk factors (5) 5
sequence analysis, dna (5) 5
age (4) 4
amino acid sequence (4) 4
batten-disease (4) 4
brain - pathology (4) 4
chromosome mapping (4) 4
deletion (4) 4
fabry disease (4) 4
family health (4) 4
fatal outcome (4) 4
gene mutations (4) 4
genetic linkage (4) 4
genotype (4) 4
involvement (4) 4
kufs-disease (4) 4
ncl (4) 4
nervous system diseases - genetics (4) 4
neurodegeneration (4) 4
plasma (4) 4
alpha-galactosidase (3) 3
amyotrophic lateral sclerosis - genetics (3) 3
brain - metabolism (3) 3
candidate gene (3) 3
case-control studies (3) 3
causes of (3) 3
cells (3) 3
cln6 (3) 3
deficiency (3) 3
degeneration (3) 3
deoxyribonucleic acid--dna (3) 3
disorders (3) 3
dnajc5 (3) 3
efficacy (3) 3
exome - genetics (3) 3
exome sequencing (3) 3
fabry disease - drug therapy (3) 3
frontotemporal lobar degeneration (3) 3
gene expression regulation (3) 3
genetic disorders (3) 3
genetic predisposition to disease (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Neurology, ISSN 0028-3878, 10/2015, Volume 85, Issue 14, pp. 1259 - 1261
Journal Article
Journal Article
by Cirulli, Elizabeth T and Lasseigne, Brittany N and Petrovski, Slavé and Sapp, Peter C and Dion, Patrick A and Leblond, Claire S and Couthouis, Julien and Lu, Yi-Fan and Wang, Quanli and Krueger, Brian J and Ren, Zhong and Keebler, Jonathan and Han, Yujun and Levy, Shawn E and Boone, Braden E and Wimbish, Jack R and Waite, Lindsay L and Jones, Angela L and Carulli, John P and Day-Williams, Aaron G and Staropoli, John F and Xin, Winnie W and Chesi, Alessana and Raphael, Alya R and McKenna-Yasek, Diane and Cady, Janet and de Jong, J. M. B. Vianney and Kenna, Kevin P and Smith, Bradley N and Topp, Simon and Miller, Jack and Gkazi, Athina and Al-Chalabi, Ammar and van den Berg, Leonard H and Veldink, Jan and Silani, Vincenzo and Ticozzi, Nicola and Shaw, Christopher E and Baloh, Robert H and Appel, Stanley and Simpson, Ericka and Lagier-Tourenne, Clotilde and Pulst, Stefan M and Gibson, Summer and Trojanowski, John Q and Elman, Lauren and McCluskey, Leo and Grossman, Murray and Shneider, Neil A and Chung, Wendy K and Ravits, John M and Glass, Jonathan D and Sims, Katherine B and van Deerlin, Vivianna M and Maniatis, Tom and Hayes, Sebastian D and Ordureau, Alban and Swarup, Sharan and Landers, John and Baas, Frank and Allen, Anew S and Bedlack, Richard S and Harper, J. Wade and Gitler, Aaron D and Rouleau, Guy A and Brown, Robert and Harms, Matthew B and Cooper, Gregory M and Harris, Tim and Myers, Richard M and Goldstein, David B and Hardiman, Orla and McLaughlin, Russell L and Mazzini, Letizia and Blair, Ian P and Williams, Kelly L and Nicholson, Garth A and Al-Sarraj, Safa and King, Anew and Scotter, Emma L and Troakes, Claire and Vance, Caroline and D'alfonso, Sana and Duga, Stefano and Corrado, Lucia and ten Asbroek, Anneloor L. M. A and Calini, Daniela and Colombrita, Claudia and Ratti, Antonia and Tiloca, Cinzia and Wu, Zheyang and Asress, Seneshaw and Polak, Meraida and Diekstra, Frank and van Rheenen, Wouter and Danielson, Eric W and Fallini, Claudia and Keagle, Pamela and Lewis, Elizabeth A and Kost, Jason and ... and FALS Sequencing Consortium
Science, ISSN 0036-8075, 2015, Volume 347, Issue 6229, pp. 1436 - 1441
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 04/2015, Volume 290, Issue 16, pp. 10309 - 10324
Lysosomes are ubiquitous membrane-enclosed organelles filled with an acidic interior and are central to the autophagic, endocytic, or phagocytic pathway. In... 
GEMFIBROZIL | GAMMA | Retinoic Acid | BIOCHEMISTRY & MOLECULAR BIOLOGY | Astrocyte | AUTOPHAGY | LIPID-LOWERING DRUG | Peroxisome proliferator-activated Receptor (PPAR) | MESSENGER-RNAS | ADOPTIVE TRANSFER | Neurodegeneration | GENE-EXPRESSION | Lysosomal Storage Disease | RETINOID-X-RECEPTOR | CELLULAR CLEARANCE | UP-REGULATION | Retinoid X Receptor alpha - metabolism | Humans | Neurons - cytology | PPAR gamma - metabolism | Autophagy - drug effects | Brain - metabolism | Lysosomes - metabolism | Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha | Neurons - metabolism | Neurons - drug effects | PPAR gamma - genetics | Tretinoin - pharmacology | Astrocytes - cytology | Lysosomes - drug effects | Astrocytes - drug effects | Promoter Regions, Genetic | Brain - cytology | PPAR-beta - metabolism | Signal Transduction | Gene Expression Regulation | PPAR alpha - genetics | Gemfibrozil - pharmacology | Transcription Factors - genetics | PPAR-beta - genetics | Brain - drug effects | Transcription Factors - metabolism | Animals | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Lipid Metabolism - drug effects | Retinoid X Receptor alpha - genetics | Protein Binding | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - metabolism | PPAR alpha - agonists | Mice | PPAR alpha - metabolism | Primary Cell Culture | Astrocytes - metabolism | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Journal Article
Annals of Internal Medicine, ISSN 0003-4819, 01/2007, Volume 146, Issue 2, pp. 77 - 86
Journal Article
Psychological Science, ISSN 0956-7976, 12/2014, Volume 25, Issue 12, pp. 2277 - 2280
Pressman, Lopez and Gallagher (2013) conclude that across the globe negative emotions are bad for one’s health. Yet, just how bad negative emotions are for... 
health | emotion | negative affect | culture | Japan | UNITED-STATES | PSYCHOLOGY, MULTIDISCIPLINARY | OLDER-ADULTS | EMOTIONS | EXPRESSION | Developed Countries | Humans | Female | Male | Developing Countries | Mental Health | Health Status | Emotions | Personal health | Culture | Personality traits | Index Medicus
Journal Article
The American Journal of Medicine, ISSN 0002-9343, 02/2018, Volume 131, Issue 2, pp. 200.e1 - 200.e8
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2014, Volume 23, Issue 8, pp. 2005 - 2022
Neuronal ceroid lipofuscinosis (NCL) comprises 13 genetically distinct lysosomal disorders primarily affecting the central nervous system. Here we report... 
PLURIPOTENT STEM-CELLS | YEAST | MULTIVESICULAR BODY FORMATION | PROTEIN | ADENOASSOCIATED VIRUS | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | ORTHOLOGUE | GENETICS & HEREDITY | BATTEN-DISEASE | BTN1 | TRIPEPTIDYL-PEPTIDASE | Serine Proteases - genetics | Neurons - pathology | Cell Proliferation | Molecular Chaperones - metabolism | Membrane Glycoproteins - metabolism | Golgi Apparatus - drug effects | Humans | Electrophysiology | Endoplasmic Reticulum - metabolism | Case-Control Studies | Immunoenzyme Techniques | Neuronal Ceroid-Lipofuscinoses - pathology | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - metabolism | Fenofibrate - pharmacology | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Endoplasmic Reticulum - drug effects | Neurons - metabolism | Neurons - drug effects | Aminopeptidases - metabolism | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Induced Pluripotent Stem Cells - pathology | Lysosomes - drug effects | Serine Proteases - metabolism | Aminopeptidases - genetics | Induced Pluripotent Stem Cells - drug effects | Cells, Cultured | Molecular Chaperones - genetics | Neuronal Ceroid-Lipofuscinoses - metabolism | Gemfibrozil - pharmacology | Fibroblasts - pathology | Mutation - genetics | Blotting, Western | Membrane Glycoproteins - genetics | Fibroblasts - drug effects | Golgi Apparatus - metabolism | Models, Neurological | Index Medicus
Journal Article