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index medicus (1667) 1667
animals (1096) 1096
humans (1072) 1072
dystroglycan (677) 677
alpha-dystroglycan (632) 632
mice (625) 625
dystroglycans - metabolism (475) 475
glycosylation (434) 434
muscular dystrophy (428) 428
biochemistry & molecular biology (397) 397
neurosciences (393) 393
dystroglycans (391) 391
male (385) 385
mutation (369) 369
female (348) 348
cell biology (339) 339
muscular dystrophies - genetics (337) 337
proteins (327) 327
dystrophin (309) 309
skeletal-muscle (305) 305
laminin (264) 264
clinical neurology (256) 256
muscle, skeletal - metabolism (253) 253
genetics & heredity (243) 243
beta-dystroglycan (241) 241
expression (240) 240
membrane glycoproteins - metabolism (238) 238
cytoskeletal proteins - metabolism (233) 233
dystroglycans - genetics (229) 229
extracellular-matrix (229) 229
glycoprotein complex (219) 219
phenotype (219) 219
dystrophin - metabolism (217) 217
molecular sequence data (214) 214
mutations (214) 214
congenital muscular-dystrophy (212) 212
muscular dystrophies - metabolism (210) 210
walker-warburg-syndrome (210) 210
cytoskeletal proteins - genetics (202) 202
laminin - metabolism (199) 199
muscle, skeletal - pathology (199) 199
membrane glycoproteins - genetics (190) 190
dystrophin - genetics (188) 188
gene (181) 181
amino acid sequence (178) 178
immunohistochemistry (178) 178
article (175) 175
utrophin (175) 175
research (173) 173
genetic aspects (171) 171
duchenne muscular-dystrophy (169) 169
child (154) 154
analysis (153) 153
disease models, animal (146) 146
protein binding (146) 146
adult (145) 145
muscle (142) 142
muscular dystrophies - pathology (141) 141
cell line (140) 140
cells, cultured (140) 140
muscular-dystrophy (140) 140
mice, knockout (134) 134
neurology (134) 134
mice, inbred c57bl (133) 133
rats (132) 132
dystrophin-glycoprotein complex (128) 128
extracellular matrix (128) 128
child, preschool (126) 126
adolescent (124) 124
musculoskeletal system (123) 123
gene expression (120) 120
rodents (120) 120
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protein (119) 119
brain (116) 116
genes (116) 116
multidisciplinary sciences (115) 115
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membrane proteins - genetics (112) 112
musculoskeletal diseases (112) 112
membrane proteins - metabolism (110) 110
cells (109) 109
complex (107) 107
deficiency (105) 105
n-acetylglucosaminyltransferases - genetics (105) 105
pathology (105) 105
abnormal glycosylation (104) 104
sarcoglycans (103) 103
base sequence (102) 102
biology (102) 102
eye-brain disease (101) 101
mice, transgenic (100) 100
mutation - genetics (100) 100
genetics (98) 98
congenital muscular dystrophy (97) 97
defective glycosylation (97) 97
abridged index medicus (96) 96
blotting, western (95) 95
muscular dystrophies - congenital (95) 95
proteins - genetics (95) 95
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The Journal of Cell Biology, ISSN 0021-9525, 7/2008, Volume 182, Issue 2, pp. 249 - 261
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 285 - 291
Journal Article
Neuron, ISSN 0896-6273, 12/2012, Volume 76, Issue 5, pp. 931 - 944
Precise patterning of axon guidance cue distribution is critical for nervous system development. Using a murine forward genetic screen for novel determinants... 
ALPHA-DYSTROGLYCAN | CONGENITAL MUSCULAR-DYSTROPHY | SLIT | DEFECTIVE GLYCOSYLATION | WALKER-WARBURG-SYNDROME | RECEPTOR | HEPARAN-SULFATE | EXTRACELLULAR-MATRIX | NEUROSCIENCES | BRAIN | MIDLINE | Protein Binding - genetics | Embryo, Mammalian | Alkaline Phosphatase - metabolism | Glycoproteins - metabolism | Cercopithecus aethiops | Gene Expression Regulation, Developmental - genetics | N-Acetylglucosaminyltransferases - genetics | Neurons - cytology | Central Nervous System - embryology | Amino Acids - metabolism | Transfection | N-Acetylglucosaminyltransferases - deficiency | Neural Cell Adhesion Molecule L1 - metabolism | Nucleotidyltransferases - metabolism | Dystroglycans - physiology | Glycoproteins - genetics | Alkaline Phosphatase - genetics | Mice, Inbred C57BL | Axons - metabolism | Models, Molecular | Mice, Transgenic | Glycosylation | Mutation - genetics | Nerve Tissue Proteins - genetics | Body Patterning - physiology | Nerve Tissue Proteins - metabolism | Animals | Central Nervous System - cytology | Nucleotidyltransferases - genetics | Dystroglycans - genetics | Mice | Laminin - metabolism | Neurofilament Proteins - metabolism | Receptors, Immunologic - genetics | Body Patterning - genetics | COS Cells | Receptors, Immunologic - metabolism | Neurosciences | Analysis | Proteins | Ligands | Spinal cord | Mutation | Insects | Defects | Index Medicus | Dystroglycan | Alternation learning | Floor plate | Slit protein | Nervous system | Robo protein | Basement membranes | Axon guidance | Genetic screening
Journal Article
Nature, ISSN 0028-0836, 10/2011, Volume 478, Issue 7367, pp. 127 - 131
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, pp. 155 - 167
We report the case of a congenital myasthenic syndrome due to a mutation in , the gene encoding agrin, an extracellular matrix molecule released by the nerve... 
MUTANT MICE | PROTEIN | DEFICIENT | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | SKELETAL-MUSCLE FIBERS | DIFFERENTIATION | NEUROMUSCULAR-JUNCTION | DYSTROGLYCAN | BINDING | ACETYLCHOLINE-RECEPTOR | Agrin - chemistry | Models, Chemical | Neuromuscular Junction - metabolism | Humans | Dystroglycans - metabolism | Male | Muscle, Skeletal - metabolism | Muscle Fibers, Skeletal - metabolism | Mutation, Missense | Agrin - metabolism | Muscle, Skeletal - surgery | Synapses - metabolism | DNA Mutational Analysis | Neuromuscular Junction - genetics | Adult | Female | Myasthenic Syndromes, Congenital - genetics | Protein Structure, Tertiary | Recombinant Proteins - metabolism | Agrin - genetics | Cell Line | Receptors, Cholinergic - metabolism | Muscle, Skeletal - ultrastructure | Rats | Recombinant Proteins - chemistry | Neuromuscular Junction - ultrastructure | Receptors, Cholinergic - physiology | Animals | Biopsy | Pedigree | Muscle Fibers, Skeletal - cytology | Muscle, Skeletal - pathology | Neuromuscular Junction - physiology | Receptors, Cholinergic - genetics | Myasthenia gravis | Gene mutations | Analysis | Physiological aspects | Genetic aspects | Research | Neuromuscular junction | Synapses | Cell culture | Glycoproteins | Genetic disorders | Mutation | Muscular system | Rodents | Index Medicus | Life Sciences | Genetics | Neurons and Cognition
Journal Article
Human Mutation, ISSN 1059-7794, 2009, Volume 30, Issue 6, pp. 934 - 945
Journal Article
Neurology, ISSN 0028-3878, 2007, Volume 69, Issue 12, pp. 1254 - 1260
Background: Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) with autosomal recessive inheritance, often associated with CNS and... 
ALPHA-DYSTROGLYCAN | FUKUTIN GENE | MENTAL-RETARDATION | ABNORMALITIES | FAMILIES | WALKER-WARBURG-SYNDROME | PHENOTYPE | GLYCOSYLTRANSFERASE | FKRP MUTATIONS | GLYCOSYLATION | CLINICAL NEUROLOGY | Genetic Testing | Microcephaly - genetics | Humans | Atrophy - pathology | Dystroglycans - metabolism | Male | Muscle, Skeletal - metabolism | Brain - abnormalities | Mannosyltransferases - genetics | Muscular Dystrophies - genetics | Muscle Weakness - genetics | Intellectual Disability - genetics | Founder Effect | Haplotypes - genetics | DNA Mutational Analysis | Microcephaly - pathology | Muscle Weakness - pathology | Adult | Female | Child | Genetic Predisposition to Disease - genetics | Atrophy - physiopathology | Muscular Dystrophies - congenital | Brain - physiopathology | Gene Frequency | Intellectual Disability - pathology | Atrophy - etiology | Mutation - genetics | Genetic Markers - genetics | Muscle, Skeletal - physiopathology | Adolescent | Brain - pathology | Muscle Weakness - physiopathology | Muscle, Skeletal - pathology | Muscular Dystrophies - physiopathology | Index Medicus | Abridged Index Medicus | Haplotypes | Brain | Mental Retardation | Microcephaly | Dystroglycans | Atrophy | Life Sciences | Genetics | Genetic Screening | Mannosyltransferases | Genetic Predisposition to Disease | Genetic Markers | Muscular Dystrophies | Muscle Weakness | Muscle, Skeletal | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2017, Volume 100, Issue 3, pp. 537 - 545
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 12/2017, Volume 18, Issue 1, pp. 145 - 145
Journal Article
Journal Article
Journal Article