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1Report
المؤلفون: Casimir, LLC, Astellas Pharma Inc
المساهمون: Ralitza Gavrilova, Associate Professor of Medical Genetics and Neurology, College of Medicine
المصدر: Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial
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2Report
المؤلفون: National Eye Institute (NEI)
المساهمون: Kevin Houston, Assistant Professor
المصدر: A Randomized Cross-Over Clinical Trial Comparing Two Non-Surgical Treatments for Severe Blepharoptosis
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3Report
المؤلفون: Julius Clinical, ProPharma Group, Certara
المصدر: A Phase IIb Open-label, Multi-centre, Extension Study to Explore the Long-term Safety and Efficacy of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation Who Have Completed the KHENERGYZE Study KH176-202.
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4Report
المساهمون: Patrick Chinnery, Professor
المصدر: The Role of Nicotinamide Riboside in Mitochondrial Biogenesis
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5Report
المساهمون: Gitte Hedermann Pedersen, Bsc.
المصدر: Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia
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6
المؤلفون: Yu Takeda, Hiroko Suzuki, Katsuhiro Hosono, Akiko Hikoya, Miwa Komori, Risako Inagaki, Takashi Haseoka, Shinji Arai, Yuri Takagi, Yoshihiro Hotta, Miho Sato
المصدر: Japanese Journal of Ophthalmology. 66:314-319
مصطلحات موضوعية: Adult, Male, Ophthalmoplegia, Chronic Progressive External, Adolescent, General Medicine, Middle Aged, DNA, Mitochondrial, Young Adult, Ophthalmology, Oculomotor Muscles, Exophthalmos, Humans, Female, Retrospective Studies
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7
المؤلفون: Suat Fitoz, Seda Kaynak Sahap, Derya Bako, Serap Teber Tıras, Serdar Ceylaner, Berna Ucan
المصدر: Klinische Pädiatrie. 234:52-55
مصطلحات موضوعية: Ophthalmoplegia, Chronic Progressive External, medicine.medical_specialty, business.industry, Infant, Horizontal gaze palsy, Scoliosis, medicine.disease, Magnetic Resonance Imaging, Progressive scoliosis, Physical medicine and rehabilitation, Pediatrics, Perinatology and Child Health, medicine, Humans, business
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8
المساهمون: University of Zurich, Murgia, Marta
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 11080, p 11080 (2021)
International Journal of Molecular Sciences
International journal of molecular sciences 22(20), 11080 (2021). doi:10.3390/ijms222011080 special issue: "Novel Molecular Approaches to Skeletal Muscle Disease and Disuse"
Int. J. Mol. Sci. 22:11080 (2021)
Volume 22
Issue 20مصطلحات موضوعية: Male, Ophthalmoplegia, Chronic Progressive External, skeletal muscle, mtDNA deletions, transcriptomics, proteomics, myopathy, disease models, Muscle Fibers, Skeletal, Respiratory chain, 1607 Spectroscopy, Proteomics, Transcriptome, genetics [Ophthalmoplegia, Chronic Progressive External], Gene Regulatory Networks, Biology (General), Spectroscopy, Laser capture microdissection, General Medicine, genetics [DNA, Mitochondrial], Computer Science Applications, Cell biology, ddc, Succinate Dehydrogenase, Chemistry, Proteome, ddc:540, Female, 1606 Physical and Theoretical Chemistry, Mitochondrial DNA, genetics [Mitochondria, Muscle], 1503 Catalysis, QH301-705.5, pathology [Mitochondria, Muscle], 610 Medicine & health, Laser Capture Microdissection, Biology, genetics [NADPH Dehydrogenase], DNA, Mitochondrial, Catalysis, Article, Inorganic Chemistry, Electron Transport Complex IV, metabolism [Succinate Dehydrogenase], medicine, 1312 Molecular Biology, 1706 Computer Science Applications, Humans, Physical and Theoretical Chemistry, Molecular Biology, QD1-999, metabolism [NADPH Dehydrogenase], 1604 Inorganic Chemistry, metabolism [Electron Transport Complex IV], Gene Expression Profiling, Organic Chemistry, NADPH Dehydrogenase, pathology [Ophthalmoplegia, Chronic Progressive External], medicine.disease, Mitochondria, Muscle, Disease Models, Mtdna Deletions, Myopathy, Skeletal Muscle, Transcriptomics, 10054 Clinic for Psychiatry, Psychotherapy, and Psychosomatics, Translational elongation, pathology [Muscle Fibers, Skeletal], methods [Proteomics], Chronic progressive external ophthalmoplegia, 1605 Organic Chemistry
وصف الملف: application/pdf; application/zip; ijms_22_11080_v2.pdf - application/pdf
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9
المؤلفون: Carola Hedberg-Oldfors, Sara Nordström, Kittichate Visuttijai, Ólöf Elíasdóttir, Christopher Lindberg, U. Lindgren, Anders Oldfors
المصدر: Acta Neurologica Scandinavica
مصطلحات موضوعية: Male, Mitochondrial DNA, Ophthalmoplegia, Chronic Progressive External, Mitochondrial disease, Exercise intolerance, DNA, Mitochondrial, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, medicine, Humans, 030212 general & internal medicine, Myopathy, Muscle, Skeletal, Aged, Muscle biopsy, medicine.diagnostic_test, Base Sequence, business.industry, Mitochondrial Myopathies, General Medicine, Original Articles, Middle Aged, medicine.disease, Molecular biology, Heteroplasmy, Neurology, Mutation, Original Article, Female, Neurology (clinical), medicine.symptom, Chronic progressive external ophthalmoplegia, business, 030217 neurology & neurosurgery
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10
المؤلفون: Danni Wang, Songmu Huang, Xuejiao Chen, Zhe Lv, Yanghui Xiu, Meihua Pan
المصدر: Journal of Molecular Neuroscience. 71:293-301
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Ophthalmoplegia, Chronic Progressive External, Pathology, medicine.medical_specialty, Nonsense mutation, Pyramidal Tracts, Neuroimaging, Receptors, Cell Surface, Gene mutation, Compound heterozygosity, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Asian People, Evoked Potentials, Somatosensory, Pons, Humans, Missense mutation, Medicine, Child, Medulla Oblongata, business.industry, Horizontal gaze palsy, General Medicine, medicine.disease, Magnetic Resonance Imaging, Diffusion Tensor Imaging, 030104 developmental biology, Scoliosis, Codon, Nonsense, Somatosensory evoked potential, Mutation (genetic algorithm), Female, business, 030217 neurology & neurosurgery
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11
المؤلفون: Anu Suomalainen, Kristin N. Varhaug, Gonzalo S. Nido, Charalampos Tzoulis, Pirjo Isohanni, Irenaeus F.M. de Coo, Laurence A. Bindoff, Per M. Knappskog
المساهمون: RS: MHeNs - R3 - Neuroscience, Klinische Genetica, HUS Children and Adolescents, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Clinicum, Children's Hospital, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki University Hospital Area, HUSLAB, Department of Neurosciences, Neuroscience Center, Helsinki Institute of Life Science HiLIFE
المصدر: Annals of Clinical and Translational Neurology, 7(8), 1318-1326. Wiley
Annals of Clinical and Translational Neurology, Vol 7, Iss 8, Pp 1318-1326 (2020)
Annals of clinical and translational neurology
Annals of Clinical and Translational Neurologyمصطلحات موضوعية: Male, 0301 basic medicine, Ophthalmoplegia, Chronic Progressive External, MITOCHONDRIAL-DNA, Urine, Polymerase Chain Reaction, 3124 Neurology and psychiatry, law.invention, 0302 clinical medicine, law, Medicine, Research Articles, Polymerase chain reaction, Sequence Deletion, Sanger sequencing, medicine.diagnostic_test, General Neuroscience, Mitochondrial Myopathies, Middle Aged, Heteroplasmy, READ ALIGNMENT, 3. Good health, Real-time polymerase chain reaction, SINGLE, symbols, DETECT, Female, Research Article, RC321-571, Adult, Mitochondrial DNA, Adolescent, DISORDERS, Neurosciences. Biological psychiatry. Neuropsychiatry, PHENOTYPES, Urinalysis, DNA, Mitochondrial, Sensitivity and Specificity, DNA sequencing, 03 medical and health sciences, symbols.namesake, Humans, RC346-429, Muscle biopsy, business.industry, 3112 Neurosciences, Sequence Analysis, DNA, Molecular biology, 030104 developmental biology, Neurology. Diseases of the nervous system, Neurology (clinical), business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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12
المؤلفون: Ronan Walsh, Sinéad M. Murphy, John Craig, Petya Bogdanova-Mihaylova, Karen Baty, Francesca Brett, Robert W. Taylor, Luke O'Donnell, Michael D Alexander, Emma L. Blakely
المصدر: Journal of Neuromuscular Diseases. 7:355-360
مصطلحات موضوعية: 0301 basic medicine, Ophthalmoplegia, Chronic Progressive External, Mitochondrial DNA, RNA, Transfer, Leu, Mitochondrial disease, Cytochrome-c Oxidase Deficiency, Biology, DNA, Mitochondrial, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Cytochrome c oxidase, Gene, Muscle biopsy, medicine.diagnostic_test, medicine.disease, Pathogenicity, Molecular biology, Heteroplasmy, 030104 developmental biology, Neurology, biology.protein, Neurology (clinical), Chronic progressive external ophthalmoplegia, 030217 neurology & neurosurgery
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13
المؤلفون: Robyn P. Thom, Colleen G Bilancia, Shirley H. Wray, Ann M. Neumeyer, Harsimran Kaur, Christopher J. McDougle
المصدر: Psychiatric Genetics. 30:119-123
مصطلحات موضوعية: Adult, 0301 basic medicine, Ophthalmoplegia, Chronic Progressive External, Pediatrics, medicine.medical_specialty, Autism Spectrum Disorder, Developmental Disabilities, Recurrent ear infections, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Deformity, Humans, Ataxic Gait, Biological Psychiatry, Genetics (clinical), Dystonia, business.industry, Syndrome, Microdeletion syndrome, medicine.disease, Psychiatry and Mental health, Phenotype, 030104 developmental biology, Autism spectrum disorder, Anxiety, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, medicine.symptom, business, 030217 neurology & neurosurgery
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14
المؤلفون: Juan J. Vílchez, Eduardo Gutiérrez-Rivas, Nuria Muelas, Beatriz San Millán-Tejado, Gerardo Gutiérrez-Gutiérrez, Claudia Rodríguez-López, Luis M. García-Cárdaba, Alberto Blázquez, Joaquín Arenas, Aurelio Hernández-Laín, Miguel A. Martín, Cristina Domínguez-González, Pablo Serrano-Lorenzo
المصدر: JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: Male, 0301 basic medicine, Ophthalmoplegia, Chronic Progressive External, medicine.medical_specialty, Mitochondrial DNA, Pathology, Mitochondrial Diseases, Adolescent, Biopsy, Cell Cycle Proteins, Kearns-Sayre Syndrome, Biology, DNA, Mitochondrial, Thymidine Kinase, Ophthalmoparesis, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Ptosis, Molecular genetics, Ribonucleotide Reductases, diagnostics, Genetics, medicine, Humans, Point Mutation, Child, Muscle, Skeletal, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, External ophthalmoplegia, DNA Helicases, Infant, Newborn, Infant, neuromuscular disease, DNA Polymerase gamma, Mitochondria, Phenotype, 030104 developmental biology, Palpebral fissure, muscle disease, Child, Preschool, molecular genetics, Medical genetics, Female, medicine.symptom, clinical genetics, 030217 neurology & neurosurgery
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15
المصدر: Journal of binocular vision and ocular motility. 72(2)
مصطلحات موضوعية: Strabismus, Ophthalmoplegia, Chronic Progressive External, Ocular Motility Disorders, Scoliosis, Twins, Dizygotic, Humans, Receptors, Cell Surface, Magnetic Resonance Imaging
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16
المؤلفون: V. Montano, P. Lopriore, F. Gruosso, V. Carelli, G. P. Comi, M. Filosto, C. Lamperti, T. Mongini, O. Musumeci, S. Servidei, P. Tonin, A. Toscano, G. Primiano, M. L. Valentino, S. Bortolani, S. Marchet, G. Ricci, A. Modenese, S. Cotti Piccinelli, B. Risi, M. Meneri, I. G. Arena, G. Siciliano, Michelangelo Mancuso
المساهمون: Montano V., Lopriore P., Gruosso F., Carelli V., Comi G.P., Filosto M., Lamperti C., Mongini T., Musumeci O., Servidei S., Tonin P., Toscano A., Primiano G., Valentino M.L., Bortolani S., Marchet S., Ricci G., Modenese A., Cotti Piccinelli S., Risi B., Meneri M., Arena I.G., Siciliano G., Mancuso M.
مصطلحات موضوعية: Ophthalmoplegia, Chronic Progressive External, Mitochondrial disorders, Time Factors, Ophthalmoplegia, Time Factor, Primary mitochondrial myopathy, Pain, Mitochondrial Myopathies, Walk Test, Walking, Outcome measures, Mitochondrial disorder, Follow-Up Studie, Outcome measure, Mitochondrial Myopathie, Neurology, 6MWT, Chronic Progressive External, Humans, Neurology (clinical), Fatigue, Follow-Up Studies, Human
وصف الملف: STAMPA
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17
المؤلفون: Yue Hou, Xutong Zhao, Zhiying Xie, Meng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang
المصدر: Molecular geneticsgenomic medicine. 10(5)
مصطلحات موضوعية: Male, China, Ophthalmoplegia, Chronic Progressive External, Genetics, Humans, Female, Molecular Biology, DNA, Mitochondrial, Genetics (clinical), Mitochondria, Pedigree
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18
المؤلفون: Sinda Zarrouk, Josef Finsterer
المصدر: American journal of ophthalmology. 236
مصطلحات موضوعية: medicine.medical_specialty, Ophthalmoplegia, Chronic Progressive External, business.industry, Eyelids, Long term results, medicine.disease, Ophthalmoparesis, Ophthalmology, medicine.anatomical_structure, Palpebral fissure, Ptosis, medicine, Humans, Eyelid, medicine.symptom, Chronic progressive external ophthalmoplegia, business
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19
المؤلفون: Fabrício Castro de Borba, Marcondes Cavalcante França Junior, João Pedro Nunes Gonçalves, Brunno Machado de Campos, Carlos Roberto Martins Junior
المصدر: Arquivos de Neuro-Psiquiatria, Volume: 79, Issue: 12, Pages: 1153-1154, Published: 01 OCT 2021
Arquivos de Neuro-Psiquiatria, Issue: ahead, Published: 01 OCT 2021
Arquivos de Neuro-Psiquiatria
Arquivos de Neuro-Psiquiatria v.79 n.12 2021
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEUROمصطلحات موضوعية: medicine.medical_specialty, Ophthalmoplegia, Chronic Progressive External, Head tremor, Receptors, Cell Surface, Neurosciences. Biological psychiatry. Neuropsychiatry, Young Adult, Progressive scoliosis, medicine, Humans, Past medical history, medicine.diagnostic_test, business.industry, Horizontal gaze palsy, medicine.disease, Gaze, Diffusion Magnetic Resonance Imaging, Neurology, Scoliosis, Female, Neurology (clinical), Radiology, business, Functional magnetic resonance imaging, Diffusion MRI, Tractography, RC321-571
وصف الملف: text/html
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20
المؤلفون: Huan Zhao, Min Shi, Fang Yang, Xuhong Yang
المصدر: Neurosciences (Riyadh, Saudi Arabia). 27(2)
مصطلحات موضوعية: Adult, Male, Psychiatry and Mental health, Ophthalmoplegia, Chronic Progressive External, Young Adult, Mutation, Adenine Nucleotide Translocator 1, Humans, Mothers, Female, Kearns-Sayre Syndrome, Neurology (clinical), Atrophy