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American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 196 - 205
Journal Article
Journal of Neuropathology and Experimental Neurology, ISSN 0022-3069, 06/2006, Volume 65, Issue 6, pp. 571 - 581
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1663 - 1667
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S75 - S75
Journal Article
Nature, ISSN 0028-0836, 03/2013, Volume 495, Issue 7442, pp. 467 - 473
Algorithms designed to identify canonical yeast prions predict that around 250 human proteins, including several RNA-binding proteins associated with... 
RNA-BINDING PROTEINS | DROSOPHILA MODEL | TDP-43 | MULTIDISCIPLINARY SCIENCES | FRONTOTEMPORAL DEMENTIA | VCP MUTATIONS | DISEASE | AMYOTROPHIC-LATERAL-SCLEROSIS | SACCHAROMYCES-CEREVISIAE | STRESS GRANULES | MULTIPLE ALIGNMENT | Prions - genetics | Humans | Molecular Sequence Data | Osteitis Deformans - metabolism | Male | Drosophila melanogaster - genetics | Osteitis Deformans - genetics | Drosophila melanogaster - metabolism | Frontotemporal Dementia - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Myositis, Inclusion Body - pathology | Female | Inclusion Bodies - metabolism | Muscular Dystrophies, Limb-Girdle - pathology | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - genetics | Frontotemporal Dementia - pathology | RNA - metabolism | Frontotemporal Dementia - genetics | Amino Acid Sequence | Prions - metabolism | Peptide Termination Factors - genetics | Amyotrophic Lateral Sclerosis - genetics | Drosophila melanogaster - cytology | Mutant Proteins - genetics | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism | Mutant Proteins - metabolism | Protein Structure, Tertiary - genetics | Prions - chemistry | Saccharomyces cerevisiae Proteins - genetics | Mutation - genetics | Myositis, Inclusion Body - genetics | Peptide Termination Factors - metabolism | Amyotrophic Lateral Sclerosis - pathology | Inclusion Bodies - genetics | Osteitis Deformans - pathology | Animals | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - chemistry | Muscular Dystrophies, Limb-Girdle - metabolism | Mutant Proteins - chemistry | Amyotrophic Lateral Sclerosis - metabolism | Saccharomyces cerevisiae Proteins - metabolism | Inclusion Bodies - pathology | Myositis, Inclusion Body - metabolism | Mice | Peptide Termination Factors - chemistry | HeLa Cells | Saccharomyces cerevisiae Proteins - chemistry | Pathology | Insects | Genomics | Genetics | Software | Genomes | Mutation | Genetic testing | Patients
Journal Article
Medicine and Science in Sports and Exercise, ISSN 0195-9131, 05/2014, Volume 46, Issue 5, p. 803
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 12/2008, Volume 1782, Issue 12, pp. 744 - 748
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 11/2018, Volume 27, Issue 21, pp. 3697 - 3709
Abstract Complex I deficiency is a common cause of mitochondrial disease, resulting from mutations in genes encoding structural subunits, assembly factors or... 
SITE | NADH | BIOGENESIS | UBIQUINONE OXIDOREDUCTASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | GENERATION | MITOCHONDRIAL DISEASE | MATURATION | BINDING | DEFICIENCY | SUBUNIT | General
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2015, Volume 10, Issue 4, p. e0122888
Mutations in the valosin containing protein (VCP) gene cause hereditary Inclusion body myopathy (hIBM) associated with Paget disease of bone (PD B),... 
MAMMALIAN TARGET | LIFE-SPAN | INCLUSION-BODY MYOPATHY | MULTIDISCIPLINARY SCIENCES | FRONTOTEMPORAL DEMENTIA | VCP MUTATIONS | MOUSE MODEL | MUSCULAR-DYSTROPHY | BONE | PAGET-DISEASE | FAMILY | TOR Serine-Threonine Kinases - metabolism | Apoptosis - drug effects | Humans | Peptides - genetics | Ubiquitin - metabolism | Osteitis Deformans - metabolism | Male | Muscle, Skeletal - metabolism | Autophagy - drug effects | DNA-Binding Proteins - metabolism | Frontotemporal Dementia - metabolism | Chloroquine - pharmacology | Myoblasts - drug effects | Myoblasts - metabolism | Peptides - metabolism | Myoblasts - cytology | Disease Models, Animal | Frontotemporal Dementia - pathology | Cell Line | Sirolimus - pharmacology | Gene Knock-In Techniques | Osteitis Deformans - pathology | Animals | Eye Proteins - metabolism | Signal Transduction - drug effects | Mice | Muscle, Skeletal - pathology | Ubiquitin | Rapamycin | Analysis | Protein binding | TOR protein | Drugs | Chloroquine | Disorders | Lysosomes | Kinases | Accumulation | Defects | Signal transduction | DNA-binding protein | Rodents | Inclusion bodies | Dementia disorders | Heart diseases | Deoxyribonucleic acid--DNA | Cardiac muscle | Muscles | Amyotrophic lateral sclerosis | Substrate inhibition | Pharmacology | Patients | Substrates | Myoblasts | Pathology | Signaling | Inhibitors | Quadriceps muscle | Mutation | Frontotemporal dementia | Vacuoles | Phagocytosis | Myopathy | Deoxyribonucleic acid | DNA
Journal Article
Alzheimer Disease & Associated Disorders, ISSN 0893-0341, 01/2015, Volume 29, Issue 1, pp. 90 - 93
Hereditary inclusion body myopathy is a heterogeneous group of disorders characterized by rimmed vacuoles and by the presence of filamentous cytoplasmic and... 
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 10, p. e13183
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 04/2015, Volume 76, pp. 77 - 86
Genetic defects in the UBE3A gene, which encodes for the imprinted E6-AP ubiquitin E3 ligase (UBE3A), is responsible for the occurrence of Angelman syndrome... 
Neurodegenerative disorder | Angelman syndrome | Glutathione disulfide | Idebenone | Coenzyme Q 10 analogue | Cytochrome oxidase subunit IV | Mitochondrial respiratory chain
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2009, Volume 5, Issue 7, p. e1000559
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the... 
MAMMALIAN CHROMATIN | CONTROL REGION | HP1 PROTEINS | FISSION YEAST | NIPPED-B | ICF SYNDROME | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | DE-LANGE-SYNDROME | SILENT-CHROMATIN | GENE ACTIVATION
Journal Article