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The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2016, Volume 25, Issue 5, pp. 936 - 950
Adult-onset inherited myopathies with similar pathological features, including hereditary inclusion body myopathy (hIBM) and limb-girdle muscular dystrophy... 
RNA-PROCESSING PROTEIN | PRION-LIKE DOMAINS | BIOCHEMISTRY & MOLECULAR BIOLOGY | BINDING PROTEINS | GENETICS & HEREDITY | MOLECULAR CHAPERONE | GIRDLE MUSCULAR-DYSTROPHY | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTATIONS | STRESS GRANULES | AGGREGATION | MULTIPLE ALIGNMENT | RNA-Binding Proteins - genetics | Molecular Chaperones - metabolism | Humans | Myositis, Inclusion Body - congenital | Molecular Sequence Data | Contracture - genetics | Drosophila Proteins - metabolism | Drosophila melanogaster - genetics | Muscles - pathology | DNA-Binding Proteins - metabolism | Drosophila melanogaster - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Myositis, Inclusion Body - pathology | Adult | Muscles - metabolism | Muscular Dystrophies, Limb-Girdle - pathology | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - genetics | Disease Models, Animal | Amino Acid Sequence | HSP40 Heat-Shock Proteins - metabolism | HSP40 Heat-Shock Proteins - genetics | Signal Transduction | Ophthalmoplegia - pathology | Contracture - pathology | Gene Expression Regulation | Molecular Chaperones - genetics | Heterogeneous-Nuclear Ribonucleoproteins - metabolism | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism | DNA-Binding Proteins - genetics | Myositis, Inclusion Body - genetics | Nerve Tissue Proteins - genetics | Heterogeneous-Nuclear Ribonucleoproteins - genetics | Nerve Tissue Proteins - metabolism | Sequence Homology, Amino Acid | Contracture - metabolism | Contracture - congenital | Phenotype | Sequence Alignment | Animals | Muscular Dystrophies, Limb-Girdle - metabolism | Age of Onset | Protein Binding | Myositis, Inclusion Body - metabolism | Ophthalmoplegia - genetics | Drosophila Proteins - genetics | Mutation | RNA-Binding Proteins - metabolism | Ophthalmoplegia - metabolism | Index Medicus
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 10/2012, Volume 1822, Issue 10, pp. 1570 - 1580
Deleterious consequences of heterozygous mutations responsible for autosomal dominant optic atrophy remain a matter of debate. Primary skin fibroblasts derived... 
Mitochondrial fusion | Energy metabolism | Oxidative phosphorylation | Mitochondrial disease | Mitochondrial compartment | OXIDATIVE-PHOSPHORYLATION | APOPTOSIS | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | COUPLING DEFECT | DOMINANT OPTIC ATROPHY | BIOPHYSICS | DNA | EXTERNAL OPHTHALMOPLEGIA | FISSION | DYNAMIN-RELATED PROTEIN | MORPHOLOGY | Skin - cytology | Skin Physiological Phenomena - drug effects | Microtubule-Associated Proteins - genetics | Apoptosis - drug effects | Microtubule-Associated Proteins - metabolism | Skin - metabolism | Humans | Optic Atrophy, Autosomal Dominant - metabolism | Membrane Fusion - genetics | Apoptosis - genetics | Mitochondrial Proteins - genetics | Glycolysis - drug effects | Electron Transport Complex IV - metabolism | Glycolysis - genetics | Oxidative Phosphorylation - drug effects | Cell Respiration - genetics | DNA, Mitochondrial - genetics | Mitochondria - genetics | Mitochondrial Proteins - metabolism | Carbonyl Cyanide m-Chlorophenyl Hydrazone - pharmacology | Skin Physiological Phenomena - genetics | Cell Respiration - drug effects | Cell Respiration - physiology | bcl-Associated Death Protein - metabolism | Membrane Fusion - drug effects | bcl-2-Associated X Protein - genetics | Fibroblasts - metabolism | bcl-Associated Death Protein - genetics | Cells, Cultured | Oxidative Stress - genetics | bcl-2-Associated X Protein - metabolism | Mitochondria - metabolism | Protein Structure, Tertiary - genetics | Electron Transport Complex IV - genetics | Mitochondria - drug effects | GTP Phosphohydrolases - metabolism | GTP Phosphohydrolases - genetics | Fibroblasts - drug effects | Optic Atrophy, Autosomal Dominant - genetics | Heterozygote | Oxidative Stress - drug effects | Membrane Fusion - physiology | Skin - drug effects | Protein Structure, Tertiary - drug effects | Proteins | Glucose metabolism | Analysis | Physiological aspects | Skin | Genetic aspects | Mitochondrial DNA | Cyanides | Ophthalmology
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, pp. e67527 - e67527
Journal Article
Human Mutation, ISSN 1059-7794, 01/2015, Volume 36, Issue 1, pp. 20 - 25
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1206 - 1216
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2010, Volume 87, Issue 1, pp. 115 - 122
We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in two unrelated pedigrees who... 
CYTOCHROME-C-OXIDASE | RIBOSOME RECYCLING FACTOR | LEIGH-SYNDROME | PROTEIN-BIOSYNTHESIS | COMPLEXES | GENETICS & HEREDITY | TERMINATION CODONS UAA | BLUE-NATIVE-ELECTROPHORESIS | IDENTIFICATION | TRANSFER-RNA HYDROLASE | I-TASSER | Peptide Elongation Factors - metabolism | Protein Biosynthesis | Humans | Child, Preschool | Ribosomes - metabolism | Male | Leigh Disease - metabolism | Mitochondrial Proteins | RNA, Messenger - metabolism | Young Adult | Mitochondria - genetics | Optic Atrophy - metabolism | Female | Child | Fibroblasts - metabolism | Optic Atrophy - genetics | Peptide Termination Factors - genetics | RNA, Transfer - metabolism | Cells, Cultured | Oxidative Phosphorylation | RNA, Ribosomal - metabolism | Electron Transport Chain Complex Proteins - genetics | Mitochondria - metabolism | Leigh Disease - genetics | Peptide Termination Factors - metabolism | Pedigree | Electron Transport Chain Complex Proteins - metabolism | Ophthalmoplegia - genetics | Mutation | Ophthalmoplegia - metabolism | Enzymes | Encephalomyelitis | Chromosome deletion | Mitochondrial DNA | Research | Genetic translation | Gene mutations | Analysis | Physiological aspects | Hydrolases | Genetic aspects | Chemical properties | Transfer RNA | Proteins | Mitochondria | Phosphorylation | Genetic disorders | Peptides | Genomics | Genetics | Ribonucleic acid--RNA | Gene expression | Index Medicus | Report
Journal Article
Human Mutation, ISSN 1059-7794, 04/2014, Volume 35, Issue 4, pp. 478 - 485
Mandibulofacial dysostosis, G uion‐ A lmeida type ( MFDGA ) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by... 
microcephaly | mandibulofacial dysostosis | spliceosome | EFTUD | EFTUD2 | Spliceosome | Microcephaly | Mandibulofacial dysostosis | ESOPHAGEAL ATRESIA | COMPLEX | MENTAL-RETARDATION | ANOMALIES | GENETICS & HEREDITY | OTO-FACIAL SYNDROME | MUTATIONS | SPECTRUM | Abnormalities, Multiple - pathology | Peptide Elongation Factors - metabolism | Microcephaly - genetics | Ear, External - pathology | Humans | Mandibulofacial Dysostosis - pathology | Child, Preschool | Ribonucleoprotein, U5 Small Nuclear - metabolism | Infant | Male | Anus, Imperforate - pathology | Ribonucleoprotein, U5 Small Nuclear - genetics | Intellectual Disability - genetics | Thrombocytopenia - genetics | Mandibulofacial Dysostosis - genetics | Hearing Loss, Bilateral - pathology | Microcephaly - pathology | Female | Child | Peptide Elongation Factors - genetics | Abnormalities, Multiple - genetics | Diagnosis, Differential | Ophthalmoplegia - pathology | Prenatal Diagnosis | Intellectual Disability - pathology | Hearing Loss, Bilateral - genetics | Thrombocytopenia - pathology | Haploinsufficiency | Pregnancy | Phenotype | Hand Deformities, Congenital - genetics | Anus, Imperforate - genetics | Ophthalmoplegia - genetics | Mutation | Hand Deformities, Congenital - pathology | Genetic aspects | Genetic disorders | Birth defects | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 1998, Volume 63, Issue 2, pp. 447 - 454
Mitochondrial diseases are characterized by considerable clinical variability and are most often caused by mutations in mtDNA. Because of the phenotypic... 
Mitochondrial encephalomyopathy | Genetic epidemiology | Diabetes mellitus | Hearing loss | DIABETES-MELLITUS | ENCEPHALOPATHY | FINLAND | POINT MUTATION | DISEASES | GENOTYPE | DNA | TRANSFER RNALEU(UUR) GENE | GENETICS & HEREDITY | PHENOTYPE | MYOPATHY | Calcinosis - genetics | Prevalence | Diabetes Mellitus - genetics | Acidosis, Lactic - genetics | Humans | Middle Aged | Male | Hearing Disorders - epidemiology | Epilepsy - epidemiology | Mouth Mucosa - chemistry | DNA, Mitochondrial - isolation & purification | Hearing Disorders - genetics | DNA, Mitochondrial - genetics | Ophthalmoplegia - epidemiology | Acidosis, Lactic - epidemiology | Adult | Epilepsy - genetics | Female | Cerebrovascular Disorders - epidemiology | Ataxia - genetics | Cardiomyopathy, Hypertrophic - genetics | Mitochondrial Encephalomyopathies - genetics | Ataxia - epidemiology | DNA, Mitochondrial - blood | Syndrome | Calcinosis - epidemiology | Point Mutation | Phenotype | Diabetes Mellitus - epidemiology | Adolescent | Cerebrovascular Disorders - genetics | Mitochondrial Encephalomyopathies - epidemiology | Ophthalmoplegia - genetics | Cardiomyopathy, Hypertrophic - epidemiology | Finland - epidemiology | Cohort Studies | Mitochondria | Genetic disorders | Neurogenetics | Encephalopathy | Genetic aspects | Muscle diseases | Research | Lactic acidosis | Index Medicus
Journal Article
Neurology, ISSN 0028-3878, 04/2005, Volume 64, Issue 7, pp. 1204 - 1208
Journal Article