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 (48) 48
male (41) 41
neurosciences (41) 41
mutation (38) 38
nemaline myopathy (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 (21) 21
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
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
genotype (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 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
myosin (7) 7
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Neuromuscular Disorders, ISSN 0960-8966, 04/2018, Volume 28, Issue 4, pp. 323 - 326
We present here a Finnish nemaline myopathy family with a dominant mutation in the skeletal muscle α-actin gene, p.(Glu85Lys), segregating in three... 
Dominant inheritance | Skeletal muscle alpha-actin | Three-generation family | Clinical variability | Nemaline myopathy | Muscles | Genetic aspects | Genetic disorders | Muscle proteins | Actin | Genes
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2011, Volume 6, Issue 12, p. e28699
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2014, Volume 24, Issue 4, pp. 331 - 334
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 02/2019, Volume 29, Issue 2, pp. 97 - 107
We report the first family with a dominantly inherited mutation of the nebulin gene ( ). This ∼100 kb in-frame deletion encompasses exons 14–89, causing distal... 
Distal myopathy | Nemaline myopathy-CGH Array | Dominant nemaline myopathy | Nebulin | Cap myopathy | MYOSIN | RODS | IDENTIFICATION | NEUROSCIENCES | CLINICAL NEUROLOGY | ALPHA-ACTIN GENE | DISEASE | CONGENITAL MYOPATHY | MUTATIONS | Genetic research | Cytogenetics | RNA | Gene mutations | Genes
Journal Article
European Journal of Neurology, ISSN 1351-5101, 06/2018, Volume 25, Issue 6, pp. 841 - 847
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2012, Volume 23, Issue 3, pp. 239 - 242
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 03/2018, Volume 14, Issue 3, pp. 151 - 167
Journal Article
Annals of Neurology, ISSN 0364-5134, 07/2019, Volume 86, Issue 1, pp. 129 - 142
Objective To define a distinct, dominantly inherited, mild skeletal myopathy associated with prominent and consistent tremor in two unrelated, three‐generation... 
BINDING-PROTEIN-C | ARTHROGRYPOSIS MYOPATHY | NEMALINE MYOPATHY | GENE | AUTOSOMAL-DOMINANT MYOPATHY | PHOSPHORYLATION | ABNORMALITIES | SLOW | DISEASE | ONSET DISTAL MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | Phenotypes | Tremor | Muscles | Modular structures | Proteins | Phenomenology | Genetic variance | Missense mutation | Molecular modelling | Filaments | Biopsy | Actin | Myosin | Mutation | Tremors | Myopathy
Journal Article