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Neurology, ISSN 0028-3878, 08/2015, Volume 85, Issue 8, pp. 665 - 674
Journal Article
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
PLoS ONE, ISSN 1932-6203, 04/2013, Volume 8, Issue 4, p. e61540
The establishment of human induced pluripotent stem cells (hiPSCs) has enabled the production of in vitro, patient-specific cell models of human disease. In... 
PLURIPOTENT STEM-CELLS | SKELETAL-MUSCLE | PROGENITORS | GENE | MULTIDISCIPLINARY SCIENCES | MOUSE | DUCHENNE MUSCULAR-DYSTROPHY | DYSFERLIN | EXPRESSION | FIBROBLASTS | DEFICIENCY | Electric Stimulation | MyoD Protein - genetics | Humans | Gene Expression Profiling | Muscle Fibers, Skeletal - drug effects | Muscle Fibers, Skeletal - metabolism | Cell Differentiation - genetics | Transfection | Muscle Proteins - metabolism | Distal Myopathies - metabolism | Membrane Proteins - metabolism | Induced Pluripotent Stem Cells - cytology | Induced Pluripotent Stem Cells - metabolism | Biomarkers - metabolism | Gene Expression | Induced Pluripotent Stem Cells - drug effects | Muscular Atrophy - metabolism | Membrane Proteins - genetics | Distal Myopathies - pathology | Muscular Atrophy - pathology | Cells, Cultured | Dysferlin | Muscular Atrophy - genetics | MyoD Protein - metabolism | Mice, SCID | Muscle Proteins - genetics | Distal Myopathies - genetics | Animals | Cell Differentiation - drug effects | Models, Biological | Doxycycline - pharmacology | Muscle Fibers, Skeletal - cytology | Mice | Genetic Vectors | Gene expression | Analysis | Genes | Stem cells | Cell culture | Health sciences | Disease | Muscular diseases | Myocytes | Cell fusion | Muscular dystrophy | Defects | Embryology | Immunology | Miyoshi myopathy | Rodents | Fibroblasts | Genetics | Modelling | Repair | Myotubes | Health promotion | Muscles | Twitching | Electrical stimuli | Medicine | Pathology | Musculoskeletal system | Reproducibility | Mutation | Differentiation | Pluripotency | Myopathy
Journal Article
by Palmio, J and Udd, B
Revue Neurologique, ISSN 0035-3787, 10/2016, Volume 172, Issue 10, pp. 587 - 593
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 1/2018, Volume 135, Issue 1, pp. 131 - 148
Mutations in the small heat shock protein B8 gene (HSPB8/HSP22) have been associated with distal hereditary motor neuropathy, Charcot–Marie–Tooth disease, and... 
Pathology | Neurosciences | Medicine & Public Health | HSPB8 | Myofibrillar myopathy | Peripheral neuropathy | Autophagy | MARIE-TOOTH-DISEASE | AUTOPHAGIC REMOVAL | AMYOTROPHIC-LATERAL-SCLEROSIS | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | CHAPERONE ACTIVITY | HEAT-SHOCK PROTEINS | SPINAL MUSCULAR-ATROPHY | PROTEIN B8 HSPB8 | MISSENSE MUTATION | MISFOLDED PROTEINS | Sciatic Nerve - pathology | Distal Myopathies - pathology | Atrophy - pathology | HSP20 Heat-Shock Proteins - genetics | Mice, Transgenic | Muscle, Skeletal - metabolism | Autophagy - physiology | Mitochondria - metabolism | Mitochondria - pathology | HSP20 Heat-Shock Proteins - metabolism | Muscle Proteins - genetics | Peripheral Nervous System Diseases - metabolism | Sciatic Nerve - metabolism | Animals | Muscle Proteins - metabolism | Myopathies, Structural, Congenital - pathology | Distal Myopathies - metabolism | Female | Myopathies, Structural, Congenital - metabolism | Gain of Function Mutation | Muscle, Skeletal - pathology | Atrophy - metabolism | Disease Models, Animal | Muscles | Heat shock proteins | Nervous system diseases | Genetic aspects | Glutamine | Neurodegenerative diseases | Peripheral nerves | Transgenic mice | Skeletal muscle | Desmin | Myofibrils | Atrophy | Proteins | Mitochondria | Crystallin | Neurodegeneration | Rodents | Charcot-Marie-Tooth disease | Mutation | Phagocytosis | Sciatic nerve | Myopathy | Original Paper
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 10, pp. 2670 - 2679
Journal Article