-
1
المؤلفون: Maaike de Vries, David C. Samuels, Bianca J.C. van den Bosch, Douglass M. Turnbull, Angela Abicht, Elke Holinski-Feder, Ireneus F. M. de Coo, Gavin Hudson, Rita Horvath, Hanns Lochmüller, Bart W. Smits, Anne Lombès, Laurence A. Bindoff, Robert W. Taylor, Michio Hirano, Vivienne C.M. Neeve, Bianca-Cortina Keiling, S. DiMauro, Jan A.M. Smeitink, Hubert J.M. Smeets, Carsten Saft, Thomas Klopstock, G. Gorman, Gert Van Goethem, Birgit Czermin, Claude Jardel, Patrick F. Chinnery
المساهمون: Chinnery, Patrick [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Erasmus MC other, Neurology, MUMC+: DA KG Lab Centraal Lab (9), Psychiatrie & Neuropsychologie, Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction
المصدر: Brain, 135, 3614-26
Brain, 135, Pt 12, pp. 3614-26
Brain, 135, 3614-3626. Oxford University Press
Brain
Brain, 135(12), 3614-3626. Oxford University Pressمصطلحات موضوعية: Male, Threonine, Ophthalmoplegia, Chronic Progressive External, DNA Mutational Analysis, Statistics as Topic, DNA-Directed DNA Polymerase, neuromuscular disorders, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Missense mutation, molecular biology, genetics, Age of Onset, Child, Genetics, 0303 health sciences, Mutation, mitochondrial diseases, Alanine, Homozygote, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Middle Aged, Phenotype, 3. Good health, DNA Polymerase gamma, Europe, Female, Adult, Mitochondrial DNA, Adolescent, phenotype, Biology, Statistics, Nonparametric, 03 medical and health sciences, Young Adult, SDG 3 - Good Health and Well-being, medicine, Humans, Genetic Predisposition to Disease, Epigenetics, Allele, Muscle, Skeletal, Gene, DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Family Health, Haplotype, Diffuse Cerebral Sclerosis of Schilder, Original Articles, Human Reproduction [NCEBP 12], Neurology (clinical), Human medicine, 030217 neurology & neurosurgery
وصف الملف: application/pdf; pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e86a14fb203538bd4f9cdcdfbb7632e
https://doi.org/10.1093/brain/aws298 -
2
المؤلفون: Peter Nürnberg, Rita Horvath, Mauro Santibanez-Koref, Elke Holinski-Feder, Gavin Hudson, Bernd Rautenstrauss, Hanns Lochmüller, Charlotte Foley, Gudrun Nürnberg, Sophie Hambleton, Thahira Rahman, Bernard Keavney, Patrick F. Chinnery, Vivienne C.M. Neeve, Angela Pyle, Helen Griffin, Benedikt Schoser, Ingelore Bäßmann, Jörg Kortler, Deephthi Ashok, Birgit Neitzel, John Loughlin
المصدر: Movement Disorders. 27:789-793
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Neurodegeneration with brain iron accumulation, Iron, Mutation, Missense, Biology, Consanguinity, Atrophy, Chromosome 19, medicine, Humans, Missense mutation, Child, Dystonia, Genetics, Genetic heterogeneity, Brain, Peripheral Nervous System Diseases, Syndrome, medicine.disease, Disease gene identification, Pedigree, Optic Atrophy, Peripheral neuropathy, Neurology, Dystonic Disorders, Nerve Degeneration, Neurology (clinical)
-
3
المؤلفون: Grainne S. Gorman, Robert McFarland, Emma L. Blakely, Angela Pyle, Grace Vassallo, Helen Griffin, Elke Holinski-Feder, Angela Abicht, Haluk Topaloglu, Ivo Barić, Robert W. Taylor, Andrew Best, John W. Yarham, Patrick F. Chinnery, Stephanie Kleinle, Mauro Santibanez-Koref, Rita Horvath, Ulrike Schara, Beril Talim, Charlotte L. Alston, Janbernd Kirschner, Tania Smertenko, Venkateswaran Ramesh, Jennifer Duff, Langping He, Vivienne C.M. Neeve, Birgit Czermin, Andrew A. M. Morris, Douglass M. Turnbull
المساهمون: Çocuk Sağlığı ve Hastalıkları
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, Mitochondrial disease, DNA Mutational Analysis, Respiratory chain, Medizin, whole exome sequencing, respiratory chain defects, Article, General & Internal Medicine, medicine, Humans, Exome, Leigh disease, Child, Exome sequencing, Genetics, business.industry, Haplotype, Genetic disorder, Computational Biology, Infant, Sequence Analysis, DNA, General Medicine, medicine.disease, Mitochondrial respiratory chain, Haplotypes, Child, Preschool, Female, business
وصف الملف: text/plain
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b8f092916ac109b068ca565fe945cba
http://hdl.handle.net/11655/14508 -
4
المؤلفون: Ulrike Schara, Vivienne C.M. Neeve, Angela Abicht, Zofia M.A. Chrzanowska-Lightowlers, Beril Talim, Robert N. Lightowlers, Hanns Lochmüller, Helen A. L. Tuppen, Paul M. Smith, Rita Horvath, Angela Pyle, John P. Kemp, Elke Holinski-Feder, Robert McFarland, Robert W. Taylor, Haluk Topaloglu, Patrick F. Chinnery, Birgit Czermin
المساهمون: Chinnery, Patrick [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Çocuk Sağlığı ve Hastalıkları
المصدر: Brain
مصطلحات موضوعية: Mitochondrial encephalomyopathy, Adult, Male, Candidate gene, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Genotype, Mitochondrial translation, early-onset encephalomyopathy, Blotting, Western, Respiratory chain, Medizin, combined respiratory chain deficiency, Biology, Mitochondrion, medicine.disease_cause, mitochondrial translation, DNA, Mitochondrial, Cell Line, Electron Transport, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Child, Muscle, Skeletal, 030304 developmental biology, Genetics, Cell Nucleus, 0303 health sciences, Mutation, Infant, Original Articles, Middle Aged, medicine.disease, Molecular biology, 3. Good health, Mitochondria, Child, Preschool, Protein Biosynthesis, Transfer RNA, Female, Neurology (clinical), 030217 neurology & neurosurgery
وصف الملف: application/pdf; text/plain
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb794d3e92571d83bc74a5c77c633d32
https://www.ncbi.nlm.nih.gov/pubmed/21169334 -
5
المؤلفون: Michio Hirano, Robert W. Taylor, Gavin Hudson, Patrick F. Chinnery, Birgit Czermin, S. DiMauro, B. Smeets, G. Van Goethem, J. A. M. Smeitink, M. De Vries, Vivienne C.M. Neeve, Anne Lombès, Laurence A. Bindoff, B.J.C. van den Bosch, D.M. Turnbull, Rita Horvath, Elke Holinski-Feder
المصدر: Neuromuscular Disorders. 20:S26
مصطلحات موضوعية: Genetics, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, Neurology (clinical), Presentation (obstetrics), business, Genetics (clinical)
Full Text via ClinicalKey