X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (56) 56
humans (54) 54
male (42) 42
female (32) 32
adult (30) 30
middle aged (29) 29
clinical neurology (27) 27
neurosciences (25) 25
aged (17) 17
biopsy (13) 13
muscle, skeletal - pathology (12) 12
mutation (12) 12
adolescent (11) 11
muscle, skeletal - metabolism (10) 10
pathology (10) 10
neurology (9) 9
diagnosis (8) 8
phenotype (8) 8
young adult (8) 8
brain - pathology (7) 7
genetics & heredity (7) 7
medicine & public health (7) 7
muscular dystrophy, facioscapulohumeral - genetics (7) 7
research (7) 7
abridged index medicus (6) 6
aged, 80 and over (6) 6
animals (6) 6
facioscapulohumeral muscular dystrophy (6) 6
mitochondrial diseases (6) 6
muscular diseases - pathology (6) 6
mutations (6) 6
oxidative stress (6) 6
apoptosis (5) 5
fshd (5) 5
infant (5) 5
muscles (5) 5
muscles - pathology (5) 5
muscular diseases - metabolism (5) 5
muscular dystrophy (5) 5
myopathy (5) 5
skeletal-muscle (5) 5
activation (4) 4
age of onset (4) 4
biomarkers (4) 4
brain - metabolism (4) 4
d4f104s1 (4) 4
disease (4) 4
dna mutational analysis (4) 4
dna, mitochondrial - genetics (4) 4
electromyography (4) 4
expression (4) 4
gene (4) 4
genetic aspects (4) 4
genotype (4) 4
magnetic resonance imaging (4) 4
medicine, research & experimental (4) 4
microscopy, electron (4) 4
mitochondria (4) 4
mitochondrial diseases - genetics (4) 4
mitochondrial diseases - metabolism (4) 4
mngie (4) 4
molecular diagnosis (4) 4
muscle (4) 4
muscle fibers, skeletal - metabolism (4) 4
muscle fibers, skeletal - pathology (4) 4
mutation - genetics (4) 4
neuropathology (4) 4
patients (4) 4
proteins (4) 4
registries (4) 4
risk factors (4) 4
age (3) 3
analysis (3) 3
calcium (3) 3
calsequestrin (3) 3
child, preschool (3) 3
deficiency (3) 3
differential diagnosis (3) 3
dna rearrangements (3) 3
encephalomyopathies (3) 3
exons (3) 3
family (3) 3
gene expression (3) 3
genetic research (3) 3
genetics (3) 3
immunology (3) 3
locus (3) 3
mechanisms (3) 3
medicine (3) 3
medicine, general & internal (3) 3
mice (3) 3
mitochondrial encephalomyopathies - genetics (3) 3
muscular atrophy - pathology (3) 3
muscular diseases - genetics (3) 3
muscular dystrophy, facioscapulohumeral - diagnosis (3) 3
muscular dystrophy, facioscapulohumeral - physiopathology (3) 3
musculoskeletal diseases (3) 3
neuroradiology (3) 3
original (3) 3
patient (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Clinical Pathology, ISSN 0021-9746, 08/2019, p. jclinpath-2019-206090
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 628 - 635
Journal Article
PloS one, ISSN 1932-6203, 2014, Volume 9, Issue 11, pp. e111490 - e111490
Autophagy has a large range of physiological functions and its dysregulation contributes to several human disorders, including autoinflammatory/autoimmune... 
CELLS | IN-VITRO | POLYMYOSITIS | HEAT-SHOCK-PROTEIN-60 | MULTIDISCIPLINARY SCIENCES | TOLL-LIKE RECEPTORS | SKELETAL-MUSCLES | HMGB1 | MYCOPLASMA-PNEUMONIAE INFECTION | EXPRESSION | ANTIGEN | Chaperonin 60 - genetics | Myositis - etiology | Microtubule-Associated Proteins - metabolism | Humans | Phagosomes - metabolism | Immunity, Innate - genetics | Myositis - diagnosis | Protein Transport | Autophagy - immunology | Regeneration - genetics | Toll-Like Receptors - genetics | HMGB Proteins - genetics | Biomarkers | Protein Binding | HMGB Proteins - metabolism | Transcription, Genetic | Chaperonin 60 - metabolism | HLA-DR Antigens - immunology | Myositis - pathology | Autophagy - genetics | Toll-Like Receptors - metabolism | HLA-DR Antigens - metabolism | Regeneration - immunology | RNA | Heat shock proteins | Hsp60 protein | Pneumonia | Transcription | Pathogenesis | Disorders | Immunoblotting | Innate immunity | Activation | Tissues | Autophagy | Immunity | HMGB1 protein | Subgroups | Proteins | Rodents | Toll-like receptors | Bacteria | Localization | Inducers | Immune system | Antigens | Neuromuscular diseases | Immunoglobulins | Dermatomyositis | Muscles | Hazards | TLR4 protein | Patients | TLR3 protein | Neurology | Polymyositis | Biopsy | Myositis | Autoimmune diseases | Immunofluorescence | Phagocytosis | Index Medicus
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/2017, Volume 55, Issue 1, pp. 55 - 68
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1761 - 1773
Journal Article
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1163 - 1170
A missense mutation in the calsequestrin‐1 gene ( CASQ 1 ) was found in a group of patients with a myopathy characterized by weakness, fatigue, and the... 
CASQ | calsequestrin | aggregate myopathy | skeletal muscle | sarcoplasmic reticulum | Calsequestrin | CASQ1 | Sarcoplasmic reticulum | Aggregate myopathy | Skeletal muscle | CALSEQUESTRIN | SLOW-TWITCH MUSCLE | CAFFEINE | POLYMERIZATION | CONGENITAL MYOPATHIES | RELEASE | aggregate myoPathy | GENETICS & HEREDITY | SKELETAL-MUSCLE FIBERS | MICE | BINDING | CASQl | casequestrin | Vacuoles - ultrastructure | Calcium - metabolism | Humans | Middle Aged | Cercopithecus aethiops | Male | Mitochondrial Proteins - genetics | Mutation, Missense | Young Adult | Mitochondrial Proteins - metabolism | Muscle Fibers, Skeletal - ultrastructure | Adult | Female | Sarcoplasmic Reticulum - ultrastructure | Sarcoplasmic Reticulum - metabolism | Protein Aggregation, Pathological - genetics | Calcium-Binding Proteins - chemistry | Calcium-Binding Proteins - metabolism | Recombinant Proteins - metabolism | Muscular Diseases - metabolism | Lysosomal Storage Diseases - genetics | Recombinant Proteins - chemistry | Muscular Diseases - pathology | Recombinant Proteins - genetics | Lysosomal Storage Diseases - pathology | Animals | Pedigree | Mitochondrial Proteins - chemistry | Lysosomal Storage Diseases - metabolism | Vacuoles - metabolism | Mice | Muscular Diseases - genetics | COS Cells | Calcium-Binding Proteins - genetics | Genes | Muscles | Aspartate | Genetic aspects | Single nucleotide polymorphisms | Calcium-binding proteins | Glycine | Proteins | Binding sites | Mutation | Index Medicus
Journal Article
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 11/2018, Volume 77, Issue 11, pp. 987 - 992
Abstract M-line is the narrow transverse band located in the center of the sarcomeric A-band that is mainly responsible for the stabilization of myosin thick... 
ANTIBODIES | M-line | ATP synthase subunit alpha | Ecto-F1-ATPase | MYOPATHY | PATHOLOGY | NEUROSCIENCES | Ankylosing spondylitis | CLINICAL NEUROLOGY | AntiTNF-alpha agents
Journal Article
Journal of Neurology, ISSN 0340-5354, 12/2012, Volume 259, Issue 12, pp. 2699 - 2706
Journal Article
Journal of Neurology, ISSN 0340-5354, 6/2016, Volume 263, Issue 6, pp. 1204 - 1214
Journal Article
ELECTROPHORESIS, ISSN 0173-0835, 12/2015, Volume 36, Issue 24, pp. 3097 - 3100
Journal Article
Muscle & Nerve, ISSN 0148-639X, 08/2010, Volume 42, Issue 2, pp. 213 - 217
Journal Article