X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (21) 21
female (12) 12
index medicus (12) 12
actins - genetics (11) 11
animals (11) 11
clinical neurology (11) 11
muscle, skeletal - pathology (11) 11
nemaline myopathy (11) 11
male (10) 10
mutation (10) 10
myopathies, nemaline - genetics (10) 10
neurosciences (10) 10
adult (9) 9
genetics & heredity (9) 9
mutations (9) 9
child, preschool (8) 8
myopathies, nemaline - pathology (8) 8
actin (7) 7
amino acid sequence (7) 7
child (7) 7
immunohistochemistry (7) 7
infant (7) 7
middle aged (7) 7
actins - metabolism (6) 6
biopsy (6) 6
dna mutational analysis (6) 6
genetic aspects (6) 6
molecular sequence data (6) 6
muscle, skeletal - metabolism (6) 6
mutation, missense (6) 6
myopathies, nemaline - metabolism (6) 6
alpha-actin gene (5) 5
cells, cultured (5) 5
congenital myopathy (5) 5
infant, newborn (5) 5
mice (5) 5
muscle, skeletal - physiopathology (5) 5
neurology (5) 5
transfection (5) 5
acta1 (4) 4
adolescent (4) 4
biochemistry & molecular biology (4) 4
fiber-type disproportion (4) 4
gene (4) 4
genetics (4) 4
models, molecular (4) 4
muscle diseases (4) 4
muscle, skeletal - ultrastructure (4) 4
muscular dystrophy (4) 4
myopathies, structural, congenital - genetics (4) 4
pedigree (4) 4
phenotype (4) 4
protein (4) 4
skeletal-muscle (4) 4
tropomyosin (4) 4
tropomyosin - genetics (4) 4
actins - chemistry (3) 3
article (3) 3
cell line (3) 3
cohort studies (3) 3
cytoplasm - metabolism (3) 3
disease (3) 3
expression (3) 3
genes (3) 3
health aspects (3) 3
medicine, research & experimental (3) 3
muscle (3) 3
muscle proteins (3) 3
muscle proteins - genetics (3) 3
muscle, skeletal - chemistry (3) 3
muscles (3) 3
muscular diseases - metabolism (3) 3
myopathies, nemaline - physiopathology (3) 3
myopathies, structural, congenital - pathology (3) 3
protein conformation (3) 3
protein isoforms - genetics (3) 3
skeletal muscle (3) 3
striated-muscle (3) 3
abridged index medicus (2) 2
actinin - metabolism (2) 2
actins - analysis (2) 2
age of onset (2) 2
alpha-actinin (2) 2
alpha-tropomyosin (2) 2
alpha-tropomyosin gene (2) 2
amino acid substitution (2) 2
articles (2) 2
binding protein (2) 2
blotting, western (2) 2
calcium - metabolism (2) 2
cardiomyopathy (2) 2
causes of (2) 2
cell nucleus - metabolism (2) 2
cells (2) 2
chromosomes, human, pair 15 (2) 2
congenital myopathies (2) 2
corrigendum (2) 2
cytoplasmic actin (2) 2
drosophila (2) 2
fetus (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 11/2014, Volume 124, Issue 11, pp. 4693 - 4708
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1086 - 1105
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2010, Volume 20, Issue 4, pp. 229 - 237
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2008, Volume 83, Issue 6, pp. 714 - 724
We have previously reported a group of patients with congenital onset weakness associated with a deficiency of members of the syntrophin-α-dystrobrevin... 
SYNTROPHIN ISOFORMS | SKELETAL-MUSCLE | LOCALIZATION | DYSTROPHIN-GLYCOPROTEIN COMPLEX | SODIUM-CHANNELS | GENETICS & HEREDITY | MUSCULAR-DYSTROPHIES | CELL-SURFACE | ALPHA-DYSTROBREVIN | MOLECULE CONTACTIN | EXPRESSION | Haplotypes | Immunohistochemistry | Neuromuscular Junction - metabolism | Contactins | Humans | Molecular Sequence Data | Infant | Male | Muscle, Skeletal - metabolism | Case-Control Studies | Sarcomeres - pathology | Dystrophin-Associated Proteins - genetics | Dystrophin-Associated Proteins - metabolism | Contactin 1 | DNA Mutational Analysis | Base Sequence | Muscle, Skeletal - chemistry | Neuromuscular Junction - genetics | Conserved Sequence | Female | Sarcolemma - metabolism | Chromosome Breakage | Microsatellite Repeats | Genetic Linkage | Myasthenic Syndromes, Congenital - genetics | Amino Acid Sequence | Muscle, Skeletal - ultrastructure | Chromosome Mapping | Genetic Markers | Cell Adhesion Molecules, Neuronal - genetics | Myasthenic Syndromes, Congenital - metabolism | Homozygote | Sarcomeres - ultrastructure | Pedigree | Consanguinity | Chromosomes, Human, Pair 12 | Muscle, Skeletal - pathology | Mutation | Amino Acid Substitution | Cohort Studies | Analysis | Causes of | Lethal mutation | Muscle diseases | Genetic aspects | Research | Neuromuscular junction | Genetic research | Muscles | Immunoglobulins | Genetic disorders
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 11/2014, Volume 124, Issue 11, pp. 4693 - 4708
Journal Article
Brain, ISSN 0006-8950, 2013, Volume 136, Issue 2, pp. 494 - 507
Journal Article