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Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 915 - 926
The GNE gene encodes the rate‐limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate‐N‐acetylglucosamine... 
distal myopathy with rimmed vacuoles | hereditary inclusion body myopathy | DMRV | HIBM | adult onset muscular dystrophy | GNE | Adult onset muscular dystrophy | Hereditary inclusion body myopathy | Distal myopathy with rimmed vacuoles | RIMMED VACUOLES DMRV | BIFUNCTIONAL ENZYME | GLCNAC 2-EPIMERASE/MANNAC KINASE | DISTAL MYOPATHY | INCLUSION-BODY MYOPATHY | ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | SIALIC-ACID BIOSYNTHESIS | GENETICS & HEREDITY | KEY ENZYME | HETEROZYGOUS MUTATIONS | N-ACETYLNEURAMINIC ACID | Gene Expression | Exons | Introns | Distal Myopathies - pathology | Gene Frequency | Humans | Sialic Acids - metabolism | Databases, Genetic | European Continental Ancestry Group | Muscle, Skeletal - metabolism | Multienzyme Complexes - genetics | Genetic Heterogeneity | Multienzyme Complexes - chemistry | Exome | Asian Continental Ancestry Group | Distal Myopathies - genetics | Distal Myopathies - physiopathology | Muscle, Skeletal - physiopathology | Alleles | Muscle, Skeletal - pathology | Mutation | Distal Myopathies - ethnology | Enzymes | Analysis | Genes | Genomics | Therapeutics | Physiological aspects | Genetic aspects | Population genetics | Organic acids | Homeopathy | Materia medica and therapeutics | Kinases | GNE myopathy | N-acetylmannosamine (ManNAc) | sialic acid | hereditary inclusion body myopathy (HIBM) | disease prevalence | distal myopathy with rimmed vacuoles (DMRV)
Journal Article
Journal of Hand Surgery, ISSN 0363-5023, 06/2019, Volume 44, Issue 6, pp. 473 - 479
Purpose: To investigate whether the location of distal radius osteotomy/shortening relative to the radial insertion of the distal interosseous membrane (DIOM)... 
distal oblique bundle | DRUJ | Distal radioulnar joint | distal interosseous membrane | distal radius fracture
Journal Article
HAND, ISSN 1558-9447, 7/2019, Volume 14, Issue 4, pp. 540 - 546
Background: Acute management of fractures of the distal ulna that are associated with fractures of the distal radius remains difficult, particularly in the... 
complication | distal ulna fracture | distal ulna resection | distal ulna and distal radius fractures | distal radius fracture
Journal Article
Annals of Surgery, ISSN 0003-4932, 01/2019, Volume 269, Issue 1, pp. 18 - 19
Journal Article
Journal Article
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 10, pp. 2670 - 2679
Journal Article
Experimental Neurology, ISSN 0014-4886, 08/2018, Volume 306, pp. 222 - 231
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 07/2018, Volume 115, Issue 28, pp. E6566 - E6575
Myosin is a molecular motor indispensable for body movement and heart contractility. Apart from pure cardiomyopathy, mutations in MYH7 encoding... 
Laing distal myopathy | Abba/Thin | Myosin myopathy | Drosophila | Myosin | STABILITY | MULTIDISCIPLINARY SCIENCES | myosin myopathy | HEAVY-CHAIN GENE | CARDIOMYOPATHY | myosin | MUSCLE | DISTAL MYOPATHY | INTEGRITY | STORAGE MYOPATHY | MUTATIONS | EXPRESSION | MYH7 | Tripartite Motif Proteins - biosynthesis | Distal Myopathies - pathology | Humans | Myosin Heavy Chains - genetics | Tripartite Motif Proteins - genetics | Myocardium - pathology | Genetic Loci | Drosophila Proteins - metabolism | Myosin Heavy Chains - metabolism | Homozygote | Distal Myopathies - genetics | Animals | Myocardium - metabolism | Distal Myopathies - metabolism | Drosophila Proteins - genetics | Mutation | Drosophila melanogaster | Disease Models, Animal | Genetic aspects | Muscle diseases | Gene expression | Health aspects | Heart | Larvae | Body wall | Cardiomyopathy | Flight | Proteins | Genotype & phenotype | Filaments | Heart diseases | Phenotypes | Cardiac muscle | Molecular motors | Muscles | Cardiomyocytes | Muscle contraction | Coronary artery disease | Skeletal muscle | Insects | Life span | Morphology | Sarcomeres | Myopathy | Structure-function relationships | Biological Sciences | PNAS Plus | Thin | Abba | Neurologi | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Biomedical Genetics | Genetik | Clinical Medicine | Neurology | Biomedicinsk genetik | Naturvetenskap | Biologiska vetenskaper | Genetics | Natural Sciences
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