X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (77) 77
female (53) 53
male (53) 53
mutation (43) 43
index medicus (37) 37
clinical neurology (31) 31
adult (30) 30
genetics & heredity (30) 30
neurosciences (30) 30
pedigree (28) 28
child (25) 25
adolescent (23) 23
muscular dystrophy (23) 23
phenotype (20) 20
gene (19) 19
genetics (18) 18
muscular dystrophies - genetics (18) 18
muscle proteins - genetics (17) 17
middle aged (16) 16
base sequence (15) 15
genetic aspects (15) 15
child, preschool (14) 14
girdle muscular-dystrophy (14) 14
research (14) 14
dna mutational analysis (13) 13
molecular sequence data (13) 13
mutation - genetics (13) 13
young adult (13) 13
life sciences (12) 12
muscle, skeletal - pathology (12) 12
mutations (12) 12
diagnosis (11) 11
proteins (11) 11
biopsy (10) 10
dysferlin (10) 10
gene mutations (10) 10
genetic linkage (10) 10
genotype (10) 10
human genetics (10) 10
myopathy (10) 10
cardiomyopathy (9) 9
chromosome mapping (9) 9
expression (9) 9
muscle (9) 9
patients (9) 9
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (8) 8
biochemistry & molecular biology (8) 8
dystrophy (8) 8
magnetic resonance imaging (8) 8
membrane proteins - genetics (8) 8
miyoshi myopathy (8) 8
muscular diseases - genetics (8) 8
neurology (8) 8
protein (8) 8
amino acid sequence (7) 7
biochemistry, molecular biology (7) 7
calpain - genetics (7) 7
identification (7) 7
muscular dystrophies, limb-girdle - genetics (7) 7
risk factors (7) 7
age of onset (6) 6
aged (6) 6
animals (6) 6
blotting, western (6) 6
care and treatment (6) 6
clinical trials (6) 6
creatine kinase - blood (6) 6
disease (6) 6
duchenne muscular dystrophy (6) 6
family (6) 6
genes (6) 6
immunohistochemistry (6) 6
localization (6) 6
neuromuscular diseases (6) 6
phenotypes (6) 6
skeletal-muscle (6) 6
asian continental ancestry group - genetics (5) 5
beta-sarcoglycan (5) 5
centronuclear myopathy (5) 5
chromosomes, human, pair 2 (5) 5
disease progression (5) 5
domain (5) 5
dysf (5) 5
france - epidemiology (5) 5
genes, recessive (5) 5
genetic markers (5) 5
genotype & phenotype (5) 5
health aspects (5) 5
limb girdle muscular dystrophy (5) 5
marie-tooth-disease (5) 5
molecular biology (5) 5
muscle, skeletal - metabolism (5) 5
muscular-dystrophy (5) 5
original (5) 5
pediatrics (5) 5
polymorphism, genetic (5) 5
population (5) 5
sequence analysis, dna (5) 5
[sdv.bbm.bm]life sciences [q-bio]/biochemistry, molecular biology/molecular biology (4) 4
alleles (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Medecine/Sciences, ISSN 0767-0974, 11/2018, Volume 34, pp. 32 - 34
Journal Article
Medecine/Sciences, ISSN 0767-0974, 03/2015, Volume 31, pp. 20 - 27
Journal Article
Medecine/Sciences, ISSN 0767-0974, 03/2015, Volume 31, pp. 34 - 38
Journal Article
Medecine/Sciences, ISSN 0767-0974, 11/2017, Volume 33, pp. 16 - 26
Journal Article
Neurology, ISSN 0028-3878, 03/2019, Volume 92, Issue 13, pp. 637 - 637
Journal Article
Medecine/Sciences, ISSN 0767-0974, 11/2016, Volume 32, pp. 52 - 54
Journal Article
Nervno-Myšečnye Bolezni= Neuromuscular Diseases, ISSN 2222-8721, 01/2012, Issue 2, p. 20
Дисферлинопатии представляют собой фенотипически гетерогенную группу нервно-мышечных заболеваний. Впервые они были описаны японским автором Миоши как... 
Journal Article
Nervno-Myšečnye Bolezni, ISSN 2222-8721, 05/2015, Volume 5, Issue 1, pp. 19 - 24
Large number of ophthalmological problems has been found in patients with glycogenosis type II (Pompe disease, PD). Since enzyme replacement therapy (ERT) has... 
Pompe disease | α-glucosidase | extraocular motility disorder | enzyme replacement therapy | lysosomal storage disease | glycogenosis type II | ptosism strabismus | myopia | ophthalmopathy | late-onset Pompe disease | infantile-onset Pompe disease
Journal Article
07/2010
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive... 
LGMD 2B | muscular dystrophy | dysferlin | Miyoshi myopathy | mini-dysferlin | limb girdle muscular dystrophy | Distal myopathy with anterior tibial onset | dysferlinopathies
Web Resource
Nervno-Myšečnye Bolezni= Neuromuscular Diseases, ISSN 2222-8721, 01/2015, Volume 5, Issue 1, p. 19
Широкий круг офтальмопатий был обнаружен у лиц, страдающих гликогенозом II типа (болезнь Помпе, БП). Обследование офтальмологом пациентов с младенческой формой... 
Journal Article
Neurology, ISSN 0028-3878, 02/2019, Volume 92, Issue 6, pp. e587 - e593
OBJECTIVETo determine the molecular etiology of disease in 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features... 
HEXOSAMINE | GENE | GFPT1 | GLYCOSYLATION | PRESENTATIONS | MUTATIONS | SPECTRUM | CLINICAL NEUROLOGY
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.