X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (15) 15
index medicus (14) 14
animals (11) 11
female (8) 8
mutation (8) 8
biochemistry & molecular biology (7) 7
genetics & heredity (6) 6
male (6) 6
messenger-rna (6) 6
rna, messenger - metabolism (6) 6
expression (5) 5
fmrp (5) 5
fragile x mental retardation protein - genetics (5) 5
fragile x mental retardation protein - metabolism (5) 5
fragile x syndrome (5) 5
mice (5) 5
neuronal ceroid lipofuscinosis (5) 5
translation (5) 5
adult (4) 4
alzheimer's disease (4) 4
analysis (4) 4
cells, cultured (4) 4
child, preschool (4) 4
mental retardation (4) 4
neurodegeneration (4) 4
neurons (4) 4
neurosciences (4) 4
rats (4) 4
research (4) 4
rna-binding protein (4) 4
adolescent (3) 3
brain - metabolism (3) 3
cells (3) 3
gene expression regulation (3) 3
genetic aspects (3) 3
hsp40 heat-shock proteins - genetics (3) 3
in-vivo (3) 3
intellectual disability - genetics (3) 3
membrane proteins - genetics (3) 3
messenger rna (3) 3
methylation (3) 3
middle aged (3) 3
multidisciplinary sciences (3) 3
nervous system diseases (3) 3
neuronal ceroid-lipofuscinoses - genetics (3) 3
neurons - metabolism (3) 3
pedigree (3) 3
protein biosynthesis (3) 3
synapses (3) 3
alzheimer disease - genetics (2) 2
alzheimers-disease (2) 2
amino acid sequence (2) 2
amyloid peptide precursor (2) 2
arginine (2) 2
article (2) 2
autopsy (2) 2
autosomal-dominant (2) 2
base sequence (2) 2
binding sites (2) 2
biophysics (2) 2
brain (2) 2
calcium channels (2) 2
cerebral cortex - cytology (2) 2
child (2) 2
chromosome deletion (2) 2
chromosomes, human, x (2) 2
clinical genetics (2) 2
csp-alpha (2) 2
cysteine-string protein alpha (2) 2
exome - genetics (2) 2
exons - genetics (2) 2
family (2) 2
fluorescence (2) 2
fragile x mental retardation protein (2) 2
fragile x mental retardation protein - chemistry (2) 2
gene expression (2) 2
gene-expression (2) 2
glycine-rich region (2) 2
hela cells (2) 2
localization (2) 2
medical education (2) 2
medicine (2) 2
mental-retardation protein (2) 2
messenger-rnas (2) 2
mice, knockout (2) 2
models, biological (2) 2
molecular sequence data (2) 2
nerve tissue proteins - genetics (2) 2
nerve tissue proteins - metabolism (2) 2
neurology (2) 2
neuronal ceroid-lipofuscinoses - metabolism (2) 2
neuronal ceroid-lipofuscinoses - pathology (2) 2
neuronal ceroid-lipofuscinosis (2) 2
neurons - drug effects (2) 2
nuclear export (2) 2
oligomers (2) 2
oxidative stress (2) 2
palmitoylation (2) 2
phenotype (2) 2
phosphorylation (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


PLoS ONE, ISSN 1932-6203, 04/2015, Volume 10, Issue 4, p. e0125205
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2016, Volume 53, Issue 12, pp. 850 - 858
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 04/2016, Volume 131, Issue 4, p. 621
  Neuronal ceroid lipofuscinoses (NCL) are a group of inherited neurodegenerative disorders with lysosomal pathology (CLN1-14). Recently, mutations in the... 
Enzymes | Exhibitions | Nervous system diseases | Genetic aspects | Neurons
Journal Article
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 4/2016, Volume 131, Issue 4, pp. 621 - 637
Journal Article
Pharmacotherapy, ISSN 0277-0008, 12/2009, Volume 29, Issue 12, pp. 1491 - 1491
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2012, Volume 7, Issue 9
Suspected specimen mislabeling for individual KUF04SR (see Table 2), resulted in reporting of a false-negative result for DNAJC5 mutation in this individual.... 
Neuronal ceroid lipofuscinosis | Mutation
Journal Article
Acta neuropathologica, ISSN 0001-6322, 4/2016, Volume 131, Issue 4, pp. 621 - 637
Neuronal Ceroid Lipofuscinoses (NCL) are a group of inherited neurodegenerative disorders with lysosomal pathology ( CLN1-14 ). Recently, mutations in the... 
Palmitoylation | Neurodegeneration | Cysteine-string protein alpha (CSPPalmitoyl-protein thioesterase 1 (PPT1) | Neuronal ceroid lipofuscinosis (NCL)
Journal Article
Journal Article
Journal of Alzheimer's disease : JAD, ISSN 1387-2877, 2014, Volume 39, Issue 1, pp. 23 - 27
Whole exome sequencing in a family with suspected dominant Kufs disease identified a novel Presenilin 1 mutation p.Leu(381)Phe in three brothers who, along... 
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.