X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (96) 96
clinical neurology (54) 54
index medicus (51) 51
male (41) 41
neurosciences (41) 41
nemaline myopathy (40) 40
mutation (38) 38
female (36) 36
muscle, skeletal - pathology (34) 34
muscular diseases - genetics (30) 30
adult (28) 28
central core disease (25) 25
child (24) 24
animals (23) 23
dominant nemaline myopathy (23) 23
genes, dominant (23) 23
myopathies, nemaline - genetics (23) 23
pedigree (23) 23
congenital myopathy (22) 22
genetics & heredity (21) 21
fiber-type disproportion (20) 20
disease (19) 19
genetic aspects (19) 19
phenotype (19) 19
muscle, skeletal - metabolism (18) 18
myopathy (18) 18
child, preschool (17) 17
myopathies, structural, congenital - genetics (17) 17
adolescent (16) 16
genetics (16) 16
muscle proteins - genetics (16) 16
muscular diseases - pathology (16) 16
middle aged (15) 15
muscular dystrophies - genetics (15) 15
mutation - genetics (15) 15
gene (14) 14
genetic disorders (14) 14
infant (14) 14
malignant hyperthermia (14) 14
linked myotubular myopathy (13) 13
muscle, skeletal - physiopathology (13) 13
myopathies, nemaline - pathology (13) 13
neurology (13) 13
ryanodine receptor calcium release channel - genetics (13) 13
actin (12) 12
dna mutational analysis (12) 12
infant, newborn (12) 12
mice (12) 12
muscular diseases - congenital (12) 12
mutations (12) 12
skeletal-muscle (12) 12
actins - genetics (11) 11
autosomal-dominant (11) 11
dominant (11) 11
genes (11) 11
girdle muscular-dystrophy (11) 11
multi-minicore disease (11) 11
muscle fibers, skeletal - pathology (11) 11
congenital myopathies (10) 10
gene mutations (10) 10
genotype (10) 10
life sciences (10) 10
muscles (10) 10
myopathy, central core - genetics (10) 10
proteins (10) 10
tropomyosin (10) 10
tropomyosin - genetics (10) 10
biochemistry & molecular biology (9) 9
biopsy (9) 9
genes, dominant - genetics (9) 9
genes, recessive (9) 9
immunohistochemistry (9) 9
molecular sequence data (9) 9
muscle (9) 9
muscular diseases - metabolism (9) 9
muscular-dystrophy (9) 9
myopathies, structural, congenital - pathology (9) 9
pathology (9) 9
mesh : humans (8) 8
muscle proteins (8) 8
muscular dystrophy (8) 8
myotubular myopathy (8) 8
pediatrics (8) 8
recessive nemaline myopathy (8) 8
rods (8) 8
autosomal-dominant myopathy (7) 7
cause autosomal-dominant (7) 7
centronuclear myopathy (7) 7
chromosome mapping (7) 7
genetic linkage (7) 7
genetic research (7) 7
genetic testing (7) 7
mesh : muscle, skeletal (7) 7
muscle, skeletal (7) 7
muscular diseases - diagnosis (7) 7
muscular dystrophies - diagnosis (7) 7
muscular dystrophies - pathology (7) 7
musculoskeletal system (7) 7
mutation, missense (7) 7
myofibrillar myopathy (7) 7
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal Article
Journal Article
ARCHIVES DE PEDIATRIE, ISSN 0929-693X, 10/1999, Volume 6, Issue 10, pp. 1077 - 1080
Background. - Type Ib pseudohypoaldosteronism is a congenital disorder characterized in the newborn by salt loss caused by multiple end-organ resistance to... 
MOLECULAR CHARACTERIZATION | hypoaldosteronism | cystic fibrosis | SWEAT SODIUM | sweat | PEDIATRICS | DOMINANT NEMALINE MYOPATHY | CYSTIC-FIBROSIS | child | MINERALOCORTICOID RECEPTOR | AGE
Journal Article
2008, Advances in Experimental Medicine and Biology, Volume 642, 15
Tropomyosin (Tin) and the troponins (troponin I, troponin T and troponin Q are proteins that work cooperatively to regulate muscle contraction, making... 
MEDICINE, RESEARCH & EXPERIMENTAL | ARTHROGRYPOSIS TYPE 2B | FIBER-TYPE DISPROPORTION | FAMILIAL HYPERTROPHIC CARDIOMYOPATHY | SLOW ALPHA-TROPOMYOSIN | GLU NONSENSE MUTATION | BETA-TROPOMYOSIN | HELICAL COILED-COILS | CAUSE DISTAL ARTHROGRYPOSIS | DOMINANT NEMALINE MYOPATHY | STRIATED-MUSCLE
Book Chapter
International Journal of Molecular Sciences, ISSN 1661-6596, 07/2008, Volume 9, Issue 7, pp. 1259 - 1275
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2008, Volume 3, Issue 1, pp. 26 - 26
Journal Article