X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (15) 15
female (13) 13
male (12) 12
index medicus (11) 11
genetics & heredity (10) 10
pedigree (10) 10
adult (9) 9
mutation (9) 9
middle aged (7) 7
aged (6) 6
haplotypes (6) 6
norway (6) 6
diagnosis (5) 5
genetics (5) 5
phenotype (5) 5
adolescent (4) 4
gene (4) 4
genetic aspects (4) 4
genetic linkage (4) 4
lod score (4) 4
neuropathy (4) 4
research article (4) 4
vdp (4) 4
article (3) 3
charcot-marie-tooth disease - genetics (3) 3
child (3) 3
chromosome mapping (3) 3
clinical neurology (3) 3
deafness (3) 3
dna mutational analysis (3) 3
genes, dominant (3) 3
genetic screening (3) 3
genomes (3) 3
hearing loss, sensorineural - genetics (3) 3
linkage analysis (3) 3
medical disciplines: 700 (3) 3
medisinske fag: 700 (3) 3
neuromuscular diseases (3) 3
proteins (3) 3
research (3) 3
young adult (3) 3
age (2) 2
age of onset (2) 2
alleles (2) 2
als (2) 2
analysis (2) 2
association (2) 2
autosomal (2) 2
basale medisinske, odontologiske og veterinærmedisinske fag: 710 (2) 2
basic medical, dental and veterinary science disciplines: 710 (2) 2
biochemistry & molecular biology (2) 2
cell line (2) 2
charcot-marie-tooth (2) 2
charcot-marie-tooth disease (2) 2
charcot-marie-tooth disease - diagnosis (2) 2
child, preschool (2) 2
clinical medicine (2) 2
connexins - genetics (2) 2
disease (2) 2
dystrophy (2) 2
families & family life (2) 2
features (2) 2
follow-up studies (2) 2
genes (2) 2
genetic and inherited disorders (2) 2
genetic disorders (2) 2
genotype (2) 2
gtp phosphohydrolases - genetics (2) 2
h46r (2) 2
hearing loss - genetics (2) 2
hereditary diseases (2) 2
hmn (2) 2
hospitals (2) 2
impairment (2) 2
localization (2) 2
medical and health sciences (2) 2
medical genetics: 714 (2) 2
medicin och hälsovetenskap (2) 2
medicine (2) 2
medisinsk genetikk: 714 (2) 2
missense mutation (2) 2
molecular sequence data (2) 2
mpz (2) 2
muscles (2) 2
muscular dystrophy (2) 2
mutation analysis (2) 2
mutation, missense - genetics (2) 2
mutations (2) 2
neurology (2) 2
neurosciences (2) 2
otorhinolaryngology (2) 2
p.his47arg (2) 2
phenotypes (2) 2
polymorphism, single nucleotide (2) 2
sequence analysis, dna (2) 2
severity of illness index (2) 2
sod1 (2) 2
strategies (2) 2
subtypes (2) 2
sweden (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 neuromuscular diseases, ISSN 2214-3599, 2019, Volume 6, Issue 3, p. 349
As new gene-related treatment options for Duchenne muscular dystrophy (DMD) are being developed, precise information about the patients' genetic diagnosis and... 
Heart | Phenotypes | Glucocorticoids | Patients | Muscular dystrophy | Genetic screening | Duchenne's muscular dystrophy | Genetic analysis | Ventilation | Mutation | Dystrophy | Ventricle | Diagnosis | Age | Genotypes
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 09/2013, Volume 14, Issue 1, pp. 94 - 94
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2011, Volume 6, Issue 8, p. e22968
Limb-Girdle Muscular Dystrophy type 2I (LGMD2I) is an inheritable autosomal, recessive disorder caused by mutations in the FuKutin-Related Protein (FKRP) gene... 
ALPHA-DYSTROGLYCAN | CONGENITAL MUSCULAR-DYSTROPHY | ABNORMAL GLYCOSYLATION | MENTAL-RETARDATION | MULTIDISCIPLINARY SCIENCES | GLYCOPROTEIN COMPLEX | WALKER-WARBURG-SYNDROME | SUBCELLULAR-LOCALIZATION | BETA-DYSTROGLYCAN | MUTATIONS | EYE-BRAIN DISEASE | Disulfides - metabolism | Immunoprecipitation | Golgi Apparatus - drug effects | Humans | Sialoglycoproteins - metabolism | Protein Transport - drug effects | Muscle Fibers, Skeletal - drug effects | Muscle Fibers, Skeletal - metabolism | Glycosylation - drug effects | Mannose - metabolism | Multiprotein Complexes - metabolism | Myofibrils - ultrastructure | Muscle Fibers, Skeletal - ultrastructure | Protein Binding - drug effects | Oxidation-Reduction - drug effects | Cysteine - metabolism | Golgi Apparatus - ultrastructure | Dithiothreitol - pharmacology | Biomarkers - metabolism | Recombinant Proteins - metabolism | Cell Line | Cell Survival - drug effects | Myofibrils - drug effects | Oligosaccharides - metabolism | Two-Hybrid System Techniques | Animals | Proteins - metabolism | Models, Biological | Receptors, Fibroblast Growth Factor - metabolism | Golgi Apparatus - metabolism | Myofibrils - metabolism | Protein Multimerization - drug effects | Muscles | Cysteine | Genetic aspects | Genetic disorders | Precipitation (Meteorology) | Chromosome 19 | Cell culture | Brain | Yeast | Genes | Mannose | Genomes | Muscular dystrophy | Fibers | Proteins | Extracellular matrix | FCMD protein | Labeling | Localization | Dystroglycan | Enzymes | Disulfide bonds | Immunoglobulins | Crosslinking | Histology | Glycosylation | Electron microscopy | Myofibrils | Skeletal muscle | Glycan | Hereditary diseases | Golgi apparatus | Membrane proteins | Medicine | Musculoskeletal system | Hospitals | Microscopy | Ligands | Clinical medicine | Mutation | Dystrophy | Endoplasmic reticulum | Structure-function relationships | Medisinsk genetikk: 714 | VDP | Basic medical, dental and veterinary science disciplines: 710 | Medical genetics: 714 | Medisinske Fag: 700 | Medical disciplines: 700 | Basale medisinske, odontologiske og veterinærmedisinske fag: 710
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 08/2018, Volume 28, Issue 8, pp. 639 - 645
Autosomal recessive Charcot–Marie–Tooth disease (CMT) is considered rare and phenotypic descriptions are scarce for the different subgroups. Mutations in the... 
Autosomal | CMT4C | Homozygous | Demyelinating | PROTEIN | SERIES | MYELINATION | DEFORMITIES | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | CHROMOSOME 5Q23-Q33 | SH3TC2 GENE-MUTATIONS | NEUROPATHY | JAPAN | Medical records | Genetic aspects | Genetic disorders | Paralysis
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/1999, Volume 36, Issue 9, pp. 664 - 669
Journal Article
BMC Medical Genomics, ISSN 1755-8794, 2010, Volume 3, Issue 1, pp. 9 - 9
Background: Increased mammographic density is one of the strongest independent risk factors for breast cancer. It is believed that one third of breast cancers... 
CIRCULATING LEVELS | HORMONE-THERAPY | GENETIC POLYMORPHISMS | IGFBP-3 | BREAST-CANCER RISK | POSTMENOPAUSAL NORWEGIAN WOMEN | I IGF-I | SERUM-LEVELS | GENETICS & HEREDITY | ASSOCIATION | CHINESE WOMEN | Haplotypes | Humans | Middle Aged | Insulin-Like Growth Factor Binding Proteins - blood | Insulin-Like Growth Factor I - genetics | Receptor, IGF Type 2 - genetics | Insulin-Like Growth Factor II - analysis | Insulin-Like Growth Factor II - genetics | Female | Body Mass Index | Glycoproteins - genetics | Carrier Proteins - blood | Insulin-Like Growth Factor Binding Proteins - genetics | Genotype | Glycoproteins - blood | Mammography | Receptor, IGF Type 2 - blood | Insulin-Like Growth Factor I - analysis | Receptor, IGF Type 1 - genetics | Biomarkers, Tumor - blood | Carrier Proteins - genetics | Breast Neoplasms - genetics | Receptor, IGF Type 1 - blood | Breast Neoplasms - blood | Insulin-Like Growth Factor Binding Protein 3 | Aged | Biomarkers, Tumor - genetics | Breast Neoplasms - diagnosis | Polymorphism, Single Nucleotide | Usage | Physiological aspects | Breast cancer | Genetic aspects | Insulin-like growth factors | Diagnosis | Research | Growth factor receptors | Health aspects | Risk factors | Radiology and diagnostic imaging: 763 | VDP | Oncology: 762 | Klinisk medisinske fag: 750 | Onkologi: 762 | Medisinske Fag: 700 | Radiologi og bildediagnostikk: 763 | Clinical medical disciplines: 750 | Medical disciplines: 700
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2012, Volume 22, Issue 6, pp. 511 - 521
Abstract Mutant genes associated with Charcot Marie Tooth type 2, distal hereditary motor neuropathy and familial amyotrophic lateral sclerosis may cause... 
Neurology | HMN | ALS | H46R | p.His47Arg | SOD1
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2011, Volume 155, Issue 6, pp. 1298 - 1313
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 06/2012, Volume 22, Issue 6, pp. 511 - 521
Mutant genes associated with Charcot Marie Tooth type 2, distal hereditary motor neuropathy and familial amyotrophic lateral sclerosis may cause overlapping... 
Haplotypes | neuromuscular system | Etiology | Motor neuron disease | Amyotrophic lateral sclerosis | Superoxide dismutase | Genomes | Mutation | Neuropathy | Survival | Linkage analysis
Journal Article