X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (11) 11
humans (9) 9
adult (8) 8
female (8) 8
male (8) 8
adolescent (5) 5
cardiac & cardiovascular systems (5) 5
life sciences (5) 5
middle aged (5) 5
mutation (5) 5
phenotype (5) 5
animals (4) 4
cardiovascular (4) 4
mice (4) 4
muscle proteins - genetics (4) 4
muscle, skeletal - pathology (4) 4
mutations (4) 4
pedigree (4) 4
aged (3) 3
arrhythmia (3) 3
article (3) 3
biochemistry, molecular biology (3) 3
biology (3) 3
child, preschool (3) 3
gene (3) 3
genetic aspects (3) 3
genetics (3) 3
muscle (3) 3
neurosciences (3) 3
proteins (3) 3
scn5a (3) 3
selenoproteins - genetics (3) 3
skeletal-muscle (3) 3
young adult (3) 3
aged, 80 and over (2) 2
analysis (2) 2
atrial fibrillation (2) 2
atrial fibrillation - genetics (2) 2
biochemistry & molecular biology (2) 2
brugada syndrome (2) 2
brugada syndrome - genetics (2) 2
bundle-branch block (2) 2
cells, cultured (2) 2
centronuclear myopathy (2) 2
child (2) 2
clinical neurology (2) 2
congenital muscular-dystrophy (2) 2
congenital myopathy (2) 2
disease models, animal (2) 2
diseases (2) 2
electrocardiography (2) 2
embryo, mammalian - metabolism (2) 2
expression (2) 2
family (2) 2
gene expression (2) 2
gene expression regulation, developmental (2) 2
genetics & heredity (2) 2
infant (2) 2
kcnq potassium channels (2) 2
kcnq1 potassium channel (2) 2
long qt syndrome (2) 2
long qt syndrome - genetics (2) 2
long-qt syndrome (2) 2
magnetic resonance imaging (2) 2
mesh : humans (2) 2
mesh : muscle proteins (2) 2
mice, knockout (2) 2
mtm1 gene (2) 2
mtm1 mutations (2) 2
muscle proteins - metabolism (2) 2
muscular diseases - genetics (2) 2
muscular-dystrophy (2) 2
mutation, missense (2) 2
myopathy (2) 2
nav1.5 voltage-gated sodium channel (2) 2
oxidative stress (2) 2
patch-clamp techniques (2) 2
pathology (2) 2
phenotypes (2) 2
physiological aspects (2) 2
polymerase chain reaction (2) 2
potassium channels - genetics (2) 2
potassium channels, voltage-gated (2) 2
prevalence (2) 2
research (2) 2
research article (2) 2
retrospective studies (2) 2
selenoproteins - metabolism (2) 2
sodium channels - genetics (2) 2
[ sdv.bdd ] life sciences [q-bio]/development biology (1) 1
[ sdv.mhep.phy ] life sciences [q-bio]/human health and pathology/tissues and organs [q-bio.to] (1) 1
abridged index medicus (1) 1
activation (1) 1
age of onset (1) 1
aging (1) 1
amino acid sequence (1) 1
amino acid substitution (1) 1
amino acids (1) 1
anatomy and physiology (1) 1
animal behavior (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Heart Rhythm, ISSN 1547-5271, 2010, Volume 7, Issue 1, pp. 33 - 46
Journal Article
Journal Article
Circulation: Cardiovascular Genetics, ISSN 0016-6731, 12/2009, Volume 2, Issue 6, pp. 552 - 557
Journal Article
Circulation, ISSN 0009-7322, 11/1997, Volume 96, Issue 9, p. 2778
KVLQT1, the gene encoding the alpha-subunit of a cardiac potassium channel, is the most common cause of the dominant form of long-QT syndrome (LQT1-type), the... 
KCNQ1 Potassium Channel | Potassium Channels, Voltage-Gated | Humans | Electrocardiography | Long QT Syndrome - genetics | Adult | Female | Male | Mutation | KCNQ Potassium Channels | Potassium Channels - genetics
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 8, pp. e23094 - e23094
Selenium is an essential trace element and selenoprotein N (SelN) was the first selenium-containing protein shown to be directly involved in human inherited... 
SKELETAL-MUSCLE | OXIDATIVE STRESS | ZEBRAFISH | ATROPHY | BIOLOGY | MUSCULAR-DYSTROPHY | PHENOTYPE | MICE | MUTATIONS | FORCED SWIMMING TEST | EXPRESSION | Protein Carbonylation | Selenoproteins - genetics | Muscle Contraction - genetics | Immunoblotting | Male | Mice, 129 Strain | Motor Activity | Stress, Psychological - psychology | Embryo, Mammalian - metabolism | Swimming - psychology | Gene Expression Regulation, Developmental | Muscular Diseases - physiopathology | Muscle Proteins - metabolism | Female | Selenoproteins - physiology | Muscle Proteins - physiology | Disease Models, Animal | Muscular Diseases - metabolism | Mice, Inbred C57BL | Mice, Transgenic | Reverse Transcriptase Polymerase Chain Reaction | Selenoproteins - metabolism | Mice, Knockout | Muscle Proteins - genetics | Phenotype | Animals | Embryo, Mammalian - embryology | Muscle, Skeletal - abnormalities | Muscle Contraction - physiology | Muscle, Skeletal - physiopathology | Mice | Muscle, Skeletal - pathology | Muscular Diseases - genetics | Stress, Psychological - physiopathology | Exercise | Animal behavior | Analysis | Genes | Muscles | Genetic aspects | Physical exercise | Oxidative stress | Calcium | Spine | Homeostasis | Muscle recovery | Amino acids | Rigidity | Inactivation | Proteins | Gene targeting | Rodents | Aging | Swimming | Selenium | Calcium homeostasis | Phenotypes | Deactivation | Contractility | Gene expression | Embryos | Muscle contraction | Skeletal muscle | Hereditary diseases | Musculoskeletal system | Life span | Trace elements | In vivo methods and tests | Mutation | Curvature | Myopathy | Index Medicus | Life Sciences | Molecular biology | Biochemistry, Molecular Biology
Journal Article
FASEB JOURNAL, ISSN 0892-6638, 07/2019, Volume 33, Issue 7, pp. 8504 - 8518
Dynamin 2 (DNM2) is a GTP-binding protein that controls endocytic vesicle scission and defines a whole class of dynamin-dependent endocytosis, including... 
SUPERRESOLUTION | CLATHRIN-MEDIATED ENDOCYTOSIS | CELLS | clathrin | myopathy | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | SCANNING ION-CONDUCTANCE | Charcot-Marie-Tooth | CELL BIOLOGY | TRANSFERRIN RECEPTOR | FLUORESCENCE | BIOLOGY | FISSION | CAVEOLAE | caveolin | Life Sciences | Cellular Biology | Research
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2009, Volume 117, Issue 3, pp. 283 - 291
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 3/2009, Volume 117, Issue 3, pp. 283 - 291
Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular... 
Pathology | Neurosciences | MTM1 gene | Medicine & Public Health | MTM1 mutations | Congenital myopathy | Centronuclear myopathy
Journal Article
No results were found for your search.

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