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bethlem myopathy (191) 191
humans (131) 131
index medicus (90) 90
collagen (71) 71
collagen type vi - genetics (67) 67
male (62) 62
muscular dystrophies - genetics (61) 61
congenital muscular-dystrophy (60) 60
clinical neurology (57) 57
neurosciences (57) 57
female (54) 54
mutation (52) 52
animals (48) 48
collagen vi (48) 48
mutations (47) 47
child (46) 46
muscular dystrophy (45) 45
adult (44) 44
phenotype (39) 39
ullrich congenital muscular dystrophy (37) 37
muscular dystrophies - pathology (36) 36
collagen type vi - metabolism (35) 35
biochemistry & molecular biology (34) 34
adolescent (33) 33
mice (33) 33
muscle, skeletal - pathology (33) 33
cells, cultured (29) 29
child, preschool (29) 29
extracellular matrix (29) 29
expression (28) 28
extracellular-matrix (28) 28
genetics & heredity (28) 28
skeletal-muscle (28) 28
fibroblasts - metabolism (27) 27
muscle (27) 27
cell biology (26) 26
muscular diseases - genetics (26) 26
muscular dystrophies - congenital (26) 26
alpha-3 chain (25) 25
muscle, skeletal - metabolism (24) 24
myopathy (24) 24
deficiency (23) 23
middle aged (23) 23
disease (22) 22
genetic aspects (22) 22
muscular dystrophies - metabolism (22) 22
vonwillebrand-factor (22) 22
col6a1 gene (21) 21
genetic disorders (20) 20
muscular dystrophies - physiopathology (20) 20
mitochondrial dysfunction (19) 19
analysis (18) 18
muscular diseases - pathology (18) 18
mutation - genetics (18) 18
biopsy (17) 17
contractures (17) 17
dominant (17) 17
gene (17) 17
muscular dystrophies - diagnosis (17) 17
autosomal-dominant myopathy (16) 16
collagen-vi deficiency (15) 15
fibroblasts (15) 15
globular domains (15) 15
immunohistochemistry (15) 15
in-frame deletion (15) 15
neurology (15) 15
pedigree (15) 15
young adult (15) 15
genes (14) 14
skeletal muscle (14) 14
aged (13) 13
apoptosis (13) 13
collagen type vi - deficiency (13) 13
congenital diseases (13) 13
dna mutational analysis (13) 13
genetics (13) 13
molecular sequence data (13) 13
pathology (13) 13
proteins (13) 13
autophagy (12) 12
col6a1 (12) 12
diagnosis, differential (12) 12
disease models, animal (12) 12
extracellular matrix - metabolism (12) 12
mouse (12) 12
muscle, skeletal - physiopathology (12) 12
muscles (12) 12
muscular-dystrophy (12) 12
triple-helix (12) 12
amino acid sequence (11) 11
exons (11) 11
family (11) 11
fibroblasts - pathology (11) 11
muscles - pathology (11) 11
research (11) 11
ullrich (11) 11
contracture - genetics (10) 10
diagnosis (10) 10
gene mutations (10) 10
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Journal Article
Brain, ISSN 0006-8950, 2013, Volume 136, Issue 12, pp. 3625 - 3633
Journal Article
Annals of Indian Academy of Neurology, ISSN 0972-2327, 10/2013, Volume 16, Issue 4, pp. 712 - 715
Bethlem myopathy and Ullrich congenital muscular dystrophy form a spectrum of collagenopathies caused by genetic mutations encoding for any of the three subunits of collagen VI... 
collagen VI | keloids | immunohistochemistry | contractures | Bethlem myopathy | CONGENITAL MUSCULAR-DYSTROPHY | COLLAGEN | GENES | CLINICAL NEUROLOGY | Keratin | Collagen | Physiological aspects | Keloids | Genetic aspects | Diagnosis | Health aspects | Muscular dystrophy | Contracture | Medical imaging | Muscular system | Mutation | Case Report
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2005, Volume 42, Issue 9, pp. 673 - 685
Journal Article
Annals of neurology, ISSN 0364-5134, 10/2010, Volume 68, Issue 4, pp. 511 - 520
Journal Article
Journal of Cell Science, ISSN 0021-9533, 04/2016, Volume 129, Issue 8, pp. 1671 - 1684
Journal Article
by Bao, MX and Mao, F and Zhao, ZN and Ma, GT and Xu, GJ and Xu, WJ and Chen, H and Zhu, MJ
BMC NEUROLOGY, ISSN 1471-2377, 02/2019, Volume 19, Issue 1, pp. 32 - 4
BackgroundCollagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe... 
Collagen IV | Hematuria | COL6A1 | IV COLLAGEN | Collagen VI | BASEMENT-MEMBRANES | Bethlem myopathy | Muscle dystrophy | CLINICAL NEUROLOGY | Genetic aspects | Activities of daily living | Collagen | Urine | Edema | Blood coagulation | Muscular diseases | Family medical history | Blood clots | Stains & staining | Collagen (type VI) | Atrophy | Neurology | Next-generation sequencing | Missense mutation | Hospitals | Extracellular matrix | Collagen (type IV) | Mutation | Myopathy
Journal Article