X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (5153) 5153
Book Review (647) 647
Newsletter (362) 362
Publication (359) 359
Book Chapter (83) 83
Conference Proceeding (49) 49
Newspaper Article (38) 38
Dissertation (18) 18
Reference (11) 11
Magazine Article (9) 9
Book / eBook (2) 2
Paper (1) 1
Streaming Video (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (3793) 3793
humans (3769) 3769
charcot-marie-tooth disease (2548) 2548
charcot-marie-tooth disease - genetics (2329) 2329
male (2046) 2046
female (1962) 1962
adult (1428) 1428
clinical neurology (1364) 1364
neurosciences (1315) 1315
mutation (1147) 1147
middle aged (1087) 1087
charcot-marie-tooth disease - physiopathology (925) 925
adolescent (813) 813
neuropathy (794) 794
animals (792) 792
charcot-marie-tooth disease - pathology (751) 751
pedigree (721) 721
child (712) 712
genetic aspects (674) 674
charcot-marie-tooth disease - diagnosis (673) 673
phenotype (641) 641
research (600) 600
genetics & heredity (599) 599
aged (553) 553
medical research (533) 533
charcot-marie-tooth disease - complications (532) 532
hereditary motor (528) 528
marie-tooth-disease (498) 498
charcot-marie-tooth (489) 489
medicine, experimental (486) 486
gene (485) 485
mice (457) 457
abridged index medicus (443) 443
disease (438) 438
myelin proteins - genetics (432) 432
neurology (406) 406
mutations (387) 387
sensory neuropathy (374) 374
child, preschool (345) 345
connexins - genetics (341) 341
mutation - genetics (338) 338
nervous system diseases (312) 312
genes (310) 310
point mutation (307) 307
proteins (302) 302
charcot-marie-tooth disease - metabolism (301) 301
peripheral neuropathy (298) 298
biochemistry & molecular biology (292) 292
dna mutational analysis (291) 291
analysis (290) 290
young adult (275) 275
duplication (272) 272
hereditary neuropathy (262) 262
neural conduction (258) 258
molecular sequence data (252) 252
myelin p0 protein - genetics (246) 246
myelin (234) 234
genetic research (233) 233
genetics (231) 231
diagnosis (228) 228
disease models, animal (227) 227
hereditary sensory and motor neuropathy - genetics (224) 224
article (222) 222
charcot–marie–tooth disease (219) 219
charcot-marie-tooth disease - classification (212) 212
gene mutations (211) 211
sural nerve - pathology (202) 202
genotype (201) 201
chromosome mapping (197) 197
biopsy (196) 196
electromyography (196) 196
genetic linkage (194) 194
chromosomes, human, pair 17 (193) 193
cell biology (192) 192
expression (185) 185
amino acid sequence (184) 184
schwann-cells (184) 184
surgery (183) 183
electrophysiology (180) 180
cmt (179) 179
base sequence (178) 178
family (178) 178
reports (173) 173
axons - pathology (172) 172
pressure palsies (170) 170
demyelination (169) 169
magnetic resonance imaging (169) 169
care and treatment (168) 168
nervous system (167) 167
marie-tooth disease (163) 163
neural conduction - physiology (161) 161
mutation, missense (157) 157
pmp22 (155) 155
mitochondrial proteins - genetics (152) 152
peripheral nervous system diseases - genetics (148) 148
diagnosis, differential (147) 147
genes, dominant (147) 147
pediatrics (146) 146
age of onset (145) 145
protein (144) 144
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (5043) 5043
Japanese (134) 134
French (132) 132
Spanish (70) 70
German (59) 59
Russian (55) 55
Chinese (53) 53
Portuguese (28) 28
Polish (21) 21
Italian (15) 15
Czech (12) 12
Croatian (7) 7
Serbian (7) 7
Korean (6) 6
Norwegian (4) 4
Slovak (4) 4
Swedish (4) 4
Dutch (3) 3
Turkish (3) 3
Danish (2) 2
Ukrainian (2) 2
Bulgarian (1) 1
Finnish (1) 1
Greek (1) 1
Hebrew (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal Article
Journal Article
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 12/2011, Volume 365, Issue 25, pp. 2377 - 2388
The authors report that INF2 mutations are present in patients with focal segmental glomerulosclerosis (FSGS) associated with Charcot–Marie–Tooth neuropathy.... 
GLOMERULOSCLEROSIS | MEDICINE, GENERAL & INTERNAL | MYELIN | PROTEIN | NEUROPATHY | EPITHELIAL-CELLS | GENE | RHO | MEDIATED TRANSPORT | FORMIN | NEPHROPATHY | Humans | Middle Aged | Proteolipids - metabolism | Actins - metabolism | Male | Charcot-Marie-Tooth Disease - genetics | Young Adult | Kidney - metabolism | Glomerulosclerosis, Focal Segmental - etiology | Myelin and Lymphocyte-Associated Proteolipid Proteins | Adult | Female | Membrane Transport Proteins - metabolism | Microfilament Proteins - metabolism | Child | Microfilament Proteins - genetics | Charcot-Marie-Tooth Disease - complications | Schwann Cells - metabolism | Phenotype | Animals | Adolescent | Age of Onset | Heterozygote | Mice | Mutation | Myelin Proteins - metabolism | Glomerulonephritis | Gene mutations | Charcot-Marie-Tooth disease | Causes of | Genetic aspects | Research | Myelin proteins | Cdc42 protein | Disease | Exons | Genes | Amino acids | Nervous system | Neuropathy | Guanine nucleotide-binding protein | Proteins | Myelin P0 protein | Localization | Peripheral myelin protein 22 | Deoxyribonucleic acid--DNA | Kidneys | Schwann cells | Polymerization | Myelination | Genotyping | Biopsy | Glomerulus | Cytoskeleton | Genetic testing | Cytoplasm | Guanosinetriphosphatase | Index Medicus | Abridged Index Medicus | Schwann Cells | Genomics | Kidney | Charcot-Marie-Tooth Disease | Life Sciences | Proteolipids | Biochemistry, Molecular Biology | Actins | Microfilament Proteins | Membrane Transport Proteins | Myelin Proteins | Glomerulosclerosis, Focal Segmental
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2015, Volume 86, Issue 8, pp. 873 - 878
Journal Article
12.