X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1652) 1652
Book Review (179) 179
Publication (160) 160
Book Chapter (49) 49
Book / eBook (22) 22
Conference Proceeding (16) 16
Web Resource (4) 4
Dissertation (3) 3
Government Document (3) 3
Trade Publication Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (1271) 1271
humans (1179) 1179
male (730) 730
female (678) 678
muscular dystrophies, limb-girdle - genetics (619) 619
adult (536) 536
clinical neurology (521) 521
neurosciences (486) 486
muscular dystrophy (479) 479
mutation (450) 450
middle aged (381) 381
limb-girdle muscular dystrophy (358) 358
muscle, skeletal - pathology (329) 329
animals (326) 326
phenotype (324) 324
adolescent (321) 321
muscular dystrophies, limb-girdle - pathology (308) 308
muscle proteins - genetics (287) 287
child (278) 278
gene (273) 273
dysferlin (249) 249
girdle muscular-dystrophy (245) 245
mutations (243) 243
skeletal-muscle (233) 233
genetics & heredity (223) 223
mice (215) 215
muscular dystrophies - genetics (215) 215
muscular dystrophies, limb-girdle - diagnosis (214) 214
neurology (211) 211
muscle, skeletal - metabolism (203) 203
genetic aspects (195) 195
limb girdle muscular dystrophy (188) 188
muscular dystrophies, limb-girdle - metabolism (177) 177
young adult (177) 177
pedigree (169) 169
muscular dystrophies, limb-girdle - physiopathology (165) 165
aged (164) 164
myopathy (163) 163
mutation - genetics (162) 162
biopsy (155) 155
membrane proteins - genetics (152) 152
biochemistry & molecular biology (147) 147
expression (145) 145
dna mutational analysis (144) 144
calpain - genetics (143) 143
miyoshi myopathy (139) 139
diagnosis (138) 138
proteins (137) 137
child, preschool (136) 136
magnetic resonance imaging (134) 134
immunohistochemistry (129) 129
analysis (127) 127
abridged index medicus (120) 120
muscle (116) 116
muscles (109) 109
protein (108) 108
muscular dystrophies - pathology (107) 107
disease (106) 106
muscle proteins - metabolism (105) 105
pathology (105) 105
research (104) 104
muscle, skeletal - physiopathology (102) 102
cell biology (101) 101
genotype (100) 100
dystrophy (95) 95
beta-sarcoglycan (94) 94
disease models, animal (94) 94
cardiomyopathy (93) 93
muscular dystrophies, limb-girdle - complications (93) 93
gene mutations (92) 92
genetics (91) 91
deficiency (90) 90
genes (90) 90
age of onset (86) 86
calpain (84) 84
muscular-dystrophy (84) 84
dystrophin (83) 83
article (77) 77
dilated cardiomyopathy (76) 76
blotting, western (75) 75
molecular sequence data (74) 74
muscular dystrophies, limb-girdle - therapy (73) 73
disease progression (70) 70
mutation, missense (70) 70
sarcoglycans - genetics (70) 70
medicine, research & experimental (69) 69
diagnosis, differential (68) 68
sarcoglycan (68) 68
dysferlinopathy (67) 67
muscular dystrophies - metabolism (67) 67
skeletal muscle (67) 67
alpha-dystroglycan (65) 65
duchenne muscular dystrophy (65) 65
lgmd2a (65) 65
glycosylation (64) 64
identification (64) 64
limb-girdle (63) 63
base sequence (62) 62
creatine kinase - blood (62) 62
gene expression (62) 62
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (20) 20
Holland Bloorview Kids Rehabilitation - Stacks (4) 4
Sunnybrook Health Sciences Centre - Sunnybrook Stacks (2) 2
UTL at Downsview - May be requested (2) 2
West Park Healthcare Centre - Stacks (2) 2
Collection Dvlpm't (Acquisitions) - Vendor file (1) 1
Gerstein Science - Missing (1) 1
Providence Healthcare - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1602) 1602
German (31) 31
Japanese (22) 22
Russian (16) 16
Spanish (16) 16
French (13) 13
Portuguese (11) 11
Chinese (9) 9
Turkish (5) 5
Czech (2) 2
Hungarian (2) 2
Finnish (1) 1
Italian (1) 1
Norwegian (1) 1
Polish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


The New England Journal of Medicine, ISSN 0028-4793, 03/2011, Volume 364, Issue 10, pp. 939 - 946
A dystroglycan mutation was identified in a patient with limb-girdle muscular dystrophy and cognitive dysfunction. A mouse model with this mutation reproduced... 
Phenotype | Animals | Muscular Dystrophies, Limb-Girdle - genetics | Pedigree | Humans | Dystroglycans - genetics | Female | Mice | Mutation, Missense | Sequence Analysis, DNA | Disease Models, Animal | Index Medicus | Abridged Index Medicus
Journal Article
07/2010
The recent years have seen remarkable progress in the field of limb girdle muscular dystrophies (LGMDs) with the advances in immunocytochemistry and genetics.... 
limb girdle OR sarcoglycanopathy OR dysferlinopathy | Muscular dystrophies | India
Web Resource
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 15, pp. 4103 - 4110
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 450 - 455
Journal Article
Muscle & Nerve, ISSN 0148-639X, 10/2017, Volume 56, Issue 4, pp. E38 - E38
Journal Article
Medicine, ISSN 0025-7974, 09/2018, Volume 97, Issue 38, pp. e12506 - e12506
Limb-girdle muscular dystrophy 2L (LGMD2L) is mainly characterized by late adult onset, atrophy of proximal muscles, chronic progressive and asymmetric... 
LGMD2L | MEDICINE, GENERAL & INTERNAL | limb-girdle muscular dystrophy 2L | muscular dystrophy | next-generation sequencing | anoctamin 5 | ANO5 MUTATIONS | WEAKNESS | ANO5 | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Neuropathology and Experimental Neurology, ISSN 0022-3069, 10/2006, Volume 65, Issue 10, pp. 995 - 1003
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/2017, Volume 55, Issue 1, pp. 55 - 68
Journal Article
17.