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The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 553 - 561
Journal Article
Child Psychiatry & Human Development, ISSN 0009-398X, 2/2018, Volume 49, Issue 1, pp. 109 - 122
Journal Article
Neuropediatrics, ISSN 0174-304X, 02/2014, Volume 45, Issue 1, pp. 056 - 060
Abstract Pyruvate dehydrogenase complex (PDHC) deficiency is an inborn error of metabolism that occurs most commonly due to mutations in the X-linked E1α... 
Short Communication | pyruvate dehydrogenase | lactic acidosis | neuropathy | ataxia | complex deficiency | PEDIATRICS | MUTATIONS | SPECTRUM | CLINICAL NEUROLOGY
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2013, Volume 8, Issue 10, pp. e76187 - e76187
Background: The therapeutic effects of exercise resistance and endurance training in the alleviation of muscle hypertrophy/atrophy should be considered in the... 
VALOSIN-CONTAINING PROTEIN | INCLUSION-BODY MYOPATHY | GENE | MULTIDISCIPLINARY SCIENCES | FRONTOTEMPORAL DEMENTIA | MUSCULAR-DYSTROPHY | MICE | BONE | MUTATIONS | PAGET-DISEASE | REVEALS | Mitochondria - enzymology | Muscular Atrophy - pathology | Muscular Atrophy - therapy | Valosin Containing Protein | Muscular Atrophy - genetics | Autophagy | Phenotype | Animals | Muscular Atrophy - physiopathology | Muscle, Skeletal - physiopathology | Cell Cycle Proteins - genetics | Adenosine Triphosphatases - genetics | Mice | Muscle, Skeletal - pathology | Mutation | Muscle Strength | Physical Conditioning, Animal | Apoptosis | Disease Models, Animal | Ubiquitin | Analysis | Muscles | Amyotrophic lateral sclerosis | Genetic aspects | Health aspects | Histochemistry | Pediatrics | Oxidative stress | Physical training | Mental disorders | Kinases | Muscular dystrophy | Sclerosis | Training | Proteins | Atrophy | Paget's disease | Histopathology | Rodents | Cell cycle | Dementia disorders | Endurance | Grip strength | Muscular strength | Fitness training programs | Heart failure | Phenotypes | Fitness equipment | Metabolism | Patients | Skeletal muscle | Quality of life | Diseases | Musculoskeletal system | Physical fitness | Exercise physiology | Frontotemporal dementia | Phagocytosis | Hypertrophy | Myopathy | Index Medicus
Journal Article
Sexual Abuse: A Journal of Research and Treatment, ISSN 1079-0632, 12/2014, Volume 26, Issue 6, pp. 523 - 545
Journal Article
Clinical Genetics, ISSN 0009-9163, 05/2013, Volume 83, Issue 5, pp. 422 - 431
Valosin containing protein ( VCP) disease associated with inclusion body myopathy, Paget disease of the bone and frontotemporal dementia is a progressive... 
genotype–phenotype | valosin containing protein | frontotemporal dementia | amyotrophic lateral sclerosis | inclusion body myopathy | Paget's disease of bone | Amyotrophic lateral sclerosis | Inclusion body myopathy | Valosin containing protein | Frontotemporal dementia | Genotype-phenotype | GENE-MUTATIONS | VALOSIN-CONTAINING-PROTEIN | IBMPFD | LOBAR DEGENERATION | ALS | genotype-phenotype | FAMILY | FEATURES | HETEROGENEITY | TDP-43 | GENETICS & HEREDITY | DISORDER | Exons | Humans | Middle Aged | Valosin Containing Protein | Male | Frontotemporal Dementia - mortality | Osteitis Deformans - diagnosis | Young Adult | Frontotemporal Dementia - complications | Myositis, Inclusion Body - diagnosis | Myositis, Inclusion Body - mortality | Cell Cycle Proteins - genetics | Adult | Female | Electromyography | Genetic Association Studies | Osteitis Deformans - mortality | Cell Cycle Proteins - metabolism | Adenosine Triphosphatases - metabolism | Genotype | Neural Conduction | Frontotemporal Dementia - diagnosis | Myositis, Inclusion Body - genetics | Osteitis Deformans - complications | Biopsy | Myositis, Inclusion Body - complications | Adenosine Triphosphatases - genetics | Aged | Muscle, Skeletal - pathology | Mutation | Medical research | Analysis | Genes | Medical genetics | Medicine, Experimental | Genetic aspects | Dementia | Proteins | Genotype & phenotype | Pathology | Bone diseases | Genomics | Index Medicus | Paget’s disease of bone
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 10, p. e13183
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2008, Volume 79, Issue 10, pp. 1186 - 1189
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 | Index Medicus
Journal Article
PLOS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, pp. e0176919 - e0176919
Journal Article