X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (5395) 5395
Publication (695) 695
Newsletter (502) 502
Book Chapter (78) 78
Book Review (57) 57
Book / eBook (16) 16
Conference Proceeding (10) 10
Magazine Article (5) 5
Data Set (4) 4
Dissertation (3) 3
Web Resource (2) 2
Journal / eJournal (1) 1
Newspaper Article (1) 1
Reference (1) 1
Streaming Video (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (3873) 3873
male (2539) 2539
female (2365) 2365
index medicus (2096) 2096
clinical neurology (1680) 1680
neurosciences (1635) 1635
cerebellar ataxia (1613) 1613
adult (1592) 1592
ataxia (1356) 1356
middle aged (1343) 1343
cerebellar ataxia - genetics (1214) 1214
animals (1121) 1121
mutation (1070) 1070
genetic aspects (981) 981
pedigree (825) 825
cerebellum (817) 817
research (809) 809
child (800) 800
adolescent (778) 778
genetics & heredity (768) 768
magnetic resonance imaging (751) 751
aged (739) 739
spinocerebellar ataxia (717) 717
neurology (699) 699
mice (685) 685
cerebellar-ataxia (660) 660
phenotype (627) 627
spinocerebellar ataxias - genetics (521) 521
medical research (516) 516
gene (496) 496
atrophy (478) 478
cerebellum - pathology (476) 476
medicine, experimental (470) 470
child, preschool (457) 457
dominant cerebellar-ataxia (451) 451
brain (444) 444
genetics (426) 426
disease (425) 425
analysis (404) 404
nervous system diseases (404) 404
diagnosis (381) 381
brain - pathology (376) 376
mutations (359) 359
article (357) 357
nerve tissue proteins - genetics (355) 355
cerebellar ataxia - pathology (339) 339
syndrome (328) 328
cerebellar ataxia - physiopathology (319) 319
biochemistry & molecular biology (318) 318
proteins (315) 315
ataxia - genetics (312) 312
age of onset (308) 308
reports (298) 298
neurodegeneration (294) 294
cerebellar ataxia - diagnosis (292) 292
medicine (289) 289
spinocerebellar degenerations - genetics (285) 285
young adult (285) 285
universities and colleges (275) 275
infant (274) 274
research article (272) 272
pediatrics (270) 270
mutation - genetics (269) 269
dna mutational analysis (265) 265
nervous system (263) 263
genotype (261) 261
expansion (259) 259
genes (259) 259
neurons (254) 254
physiological aspects (244) 244
degeneration (241) 241
disease models, animal (241) 241
cerebellar ataxia - complications (239) 239
gene mutations (238) 238
genetic research (233) 233
machado-joseph-disease (232) 232
diagnosis, differential (231) 231
psychiatry (230) 230
biomedicine (229) 229
alleles (223) 223
multidisciplinary sciences (221) 221
genes, dominant (220) 220
calcium channels - genetics (213) 213
family (210) 210
cell biology (206) 206
machado-joseph disease (206) 206
clinical-features (203) 203
families (203) 203
trinucleotide repeats (202) 202
health aspects (201) 201
care and treatment (198) 198
trinucleotide repeat (198) 198
patients (192) 192
disease progression (190) 190
pathology (190) 190
nuclear proteins - genetics (189) 189
cerebellar diseases - genetics (188) 188
expression (188) 188
molecular sequence data (187) 187
neurodegenerative diseases (185) 185
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (5578) 5578
French (100) 100
Japanese (84) 84
Spanish (62) 62
German (56) 56
Italian (21) 21
Russian (17) 17
Czech (9) 9
Portuguese (8) 8
Dutch (7) 7
Polish (7) 7
Chinese (6) 6
Romanian (4) 4
Hungarian (3) 3
Croatian (2) 2
Danish (2) 2
Korean (2) 2
Norwegian (2) 2
Ukrainian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Cell, ISSN 0092-8674, 10/2018, Volume 175, Issue 3, pp. 890 - 890.e1
Genetic ataxias are a clinically important group of disabling, mostly neurodegenerative, diseases of the cerebellum. This SnapShot shows that the vast majority... 
DNA-REPAIR | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | CELL BIOLOGY | Animals | Cerebellar Ataxia - genetics | Purkinje Cells - metabolism | Cerebellar Ataxia - metabolism | DNA Repair | Humans | Ion Transport
Journal Article
Archives of Iranian Medicine, ISSN 1029-2977, 01/2018, Volume 21, Issue 1, pp. 29 - 40
Intellectual disability (ID) is a common and highly heterogeneous neurodevelopmental disorder. The prevalence of ID is around 1%-3% in the general population.... 
Ciliogenesis | Ataxia | Mitochondria | Ion channels | Intellectual disability | CONGENITAL CEREBELLAR-ATAXIA | PRIMARY CILIUM | MEDICINE, GENERAL & INTERNAL | LINKED MENTAL-RETARDATION | CAUSE JOUBERT-SYNDROME | EAST SYNDROME | NUCLEOTIDE EXCHANGE FACTOR | RHO GTPASES | MUTATIONS | SNX14 CAUSE | CNS DEVELOPMENT | Intellectual disabilities
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 69 - 77
Journal Article
Neurologic Clinics, ISSN 0733-8619, 2015, Volume 33, Issue 1, pp. 225 - 248
Journal Article
Nature, ISSN 0028-0836, 01/2017, Volume 541, Issue 7635, pp. 87 - 91
XRCC1 is a molecular scaffold protein that assembles multiprotein complexes involved in DNA single-strand break repair(1,2). Here we show that biallelic... 
POLY(ADP-RIBOSE) POLYMERASE | CELLS | RATES | STRAND BREAK REPAIR | SPINOCEREBELLAR ATAXIA | REPLICATION | BASE EXCISION-REPAIR | GENE | DNA | MULTIDISCIPLINARY SCIENCES | DISEASE | Chromatin - metabolism | Humans | Adenosine Diphosphate Ribose - metabolism | DNA Repair Enzymes - genetics | Male | DNA Repair - genetics | DNA-Binding Proteins - deficiency | DNA Breaks, Single-Stranded | DNA-Binding Proteins - metabolism | Apraxias - congenital | Apraxias - genetics | DNA Repair Enzymes - metabolism | Poly (ADP-Ribose) Polymerase-1 - deficiency | Female | Ataxia - genetics | Cogan Syndrome - genetics | Cerebellum - metabolism | Phosphotransferases (Alcohol Group Acceptor) - genetics | Poly (ADP-Ribose) Polymerase-1 - metabolism | Cerebellar Ataxia - pathology | DNA-Binding Proteins - genetics | Interneurons - pathology | Cerebellum - pathology | Phosphotransferases (Alcohol Group Acceptor) - metabolism | Phenotype | Animals | Cerebellar Ataxia - genetics | Interneurons - metabolism | Pedigree | Axons - pathology | Alleles | Mice | Mutation | X-ray Repair Cross Complementing Protein 1 | Poly (ADP-Ribose) Polymerase-1 - genetics | Genetic aspects | Gene mutations | Health aspects | Cerebellar ataxia | Proteins | Studies | Genotype & phenotype | Disease | Fibroblasts | Ataxia | Peripheral neuropathy | Patients | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Journal Article
Journal Article