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Journal Article
Journal Article
Journal of Neurophysiology, ISSN 0022-3077, 06/2012, Volume 107, Issue 12, pp. 3227 - 3234
Journal Article
Analytical Chemistry, ISSN 0003-2700, 02/2017, Volume 89, Issue 3, pp. 2138 - 2146
In recent years, the number of investigations based on nontargeted metabolomics has increased, although often without a thorough assessment of analytical... 
MINIMUM REPORTING STANDARDS | CHEMISTRY, ANALYTICAL | MASS-SPECTROMETRY | Analytical chemistry | Biomarkers | Molecules | Metabolites | Index Medicus | Statistical analysis | Methodology | Efficiency | Pipelines | Mathematical analysis | Strategy
Journal Article
Brain, ISSN 0006-8950, 2/2008, Volume 131, Issue 2, pp. 338 - 351
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic... 
Chronic progressive external ophthalmoplegia | Dominant optic atrophy | Mitochondrial encephalomyopathy | Mitochondria | mtDNA multiple deletions | PROTEIN | mitochondria | NEUROSCIENCES | chronic progressive external ophthalmoplegia | R445H MUTATION | CLINICAL NEUROLOGY | mitochondrial encephalomyopathy | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | HEARING-LOSS | GENE | DISEASE | dominant optic atrophy | DEAFNESS | FISSION | DELETIONS | Ophthalmoplegia, Chronic Progressive External - pathology | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Mutation, Missense | DNA Mutational Analysis - methods | Ophthalmoplegia, Chronic Progressive External - genetics | DNA, Mitochondrial - genetics | Base Sequence | Muscle, Skeletal - chemistry | Adult | Female | Optic Atrophy, Autosomal Dominant - pathology | Child | Muscle, Skeletal - ultrastructure | Models, Molecular | Fibroblasts - pathology | Mitochondrial Myopathies - pathology | Syndrome | Magnetic Resonance Imaging | Point Mutation | Mitochondrial Myopathies - genetics | GTP Phosphohydrolases - genetics | Pedigree | Optic Atrophy, Autosomal Dominant - genetics | Aged | Index Medicus | Abridged Index Medicus | GTP Phosphohydrolases | Neurons and Cognition | DNA, Mitochondrial | Life Sciences | DNA Mutational Analysis | Fibroblasts | Optic Atrophy, Autosomal Dominant | Mitochondrial Myopathies | Ophthalmoplegia, Chronic Progressive External | Muscle, Skeletal
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2015, Volume 10, Issue 12, pp. e0144290 - e0144290
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 04/2019, Volume 9, Issue 1, pp. 6107 - 8
Pathogenic variants of OPA1, which encodes a dynamin GTPase involved in mitochondrial fusion, are responsible for a spectrum of neurological disorders sharing... 
RETINAL GANGLION-CELLS | MITOCHONDRIAL FUSION | DOMINANT OPTIC ATROPHY | PROTEIN | MULTIDISCIPLINARY SCIENCES | NEURODEGENERATION | MUTATIONS | AUTOPHAGY | MODEL | Metabolomics | Optic nerve | Threonine | RNA-mediated interference | Cortex | Phospholipids | Multivariate analysis | Neurological diseases | Atrophy | Mitochondria | Metabolites | Lysine | Dynamin | Electron transport | Guanosinetriphosphatase
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 2468 - 6
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2017, Volume 12, Issue 5, pp. e0176516 - e0176516
The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or... 
PROTEIN STABILITY | DFNB2 | USHER-SYNDROME | SYNDROME TYPE 1B | SERVER | MULTIDISCIPLINARY SCIENCES | PHENOTYPE | DEAFNESS | SPECTRUM | MYOSIN-VIIA GENE | MISSENSE MUTATIONS | Humans | Models, Molecular | Male | Myosins - chemistry | Myosins - genetics | Exome | Morocco | Usher Syndromes - genetics | Pedigree | Adult | Female | Heterozygote | Mutation | Care and treatment | Gene mutations | Analysis | Genetic aspects | Research | Muscle proteins | Risk factors | Hearing loss | Impact prediction | Gait | Lung | Retina | Hearing protection | Fragmentation | Proteins | Alterations | Coding | Cell adhesion | Genetics | Libraries | Diagnosis | Cell body | Deoxyribonucleic acid--DNA | Hair | Evaluation | Deafness | Pathogens | Human motion | Amino acid sequence | Nucleic acids | Adaptors | Cadherin | Hereditary diseases | Pathogenicity | Hearing | Software packages | Plates (structural members) | Quality control | Cell migration | Methods | Kidney transplantation | Cargo | Audiometry | Structural stability | Laboratories | Identification methods | Retinitis pigmentosa | Exons | Genes | Missense mutation | Adhesive strength | Filaments | Actin | Kidneys | Chloroform | Nucleotide sequence | Hearing impairment | Computer programs | Cadherin 23 | Reagents | Speech | Gene mapping | Cancer | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2000, Volume 26, Issue 2, pp. 207 - 210
Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals that features progressive loss in... 
CHROMOSOME 3Q REGION | HETEROGENEITY | REFINEMENT | NEUROPATHY | KJER TYPE |