المؤلفون: B Bansagi, Ramesh, Andreas Roos, Hanns Lochmüller, Helen Griffin, Alan J. Robinson, Rita Horvath, Boczonadi, Filmon Eyassu, Ers Kunji, Monika Oláhová, Angela Pyle, Tuomo Polvikoski, Patrick F. Chinnery, Roger G. Whittaker, Robert W. Taylor, Christoph H. Borchers, King, Anthony C. Smith

المصدر: Genetics in Medicine. 21:2163-2164

مصطلحات موضوعية: Mitochondrial DNA, Pathology, medicine.medical_specialty, business.industry, medicine, Disease, Spinal muscular atrophy, medicine.disease, business, OXODICARBOXYLATE CARRIER, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::173d69b4dcb58bf6371c7dd1f366570bTest
https://doi.org/10.1038/s41436-019-0506-1Test

المؤلفون: Patrick F. Chinnery, Joana Nunes, Renata Oliveira, Robert W. Taylor, Luísa Diogo, Manuela Grazina, Ewen W. Sommerville, Angela Pyle, Paula Garcia, Kyle Thompson

المصدر: JIMD Reports ISBN: 9783662550113

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Pediatrics, biology, business.industry, Mitochondrial translation, Mitochondrial disease, Encephalopathy, medicine.disease, Article, Leukoencephalopathy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mitochondrial respiratory chain, Lactic acidosis, biology.protein, Medicine, Cytochrome c oxidase, Brainstem, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66527aeca7f73596d731058dd89f0c1aTest
https://doi.org/10.1007/8904_2016_581Test

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)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e98eb96a0b081e03bee6d78ccc5ef3Test
https://doi.org/10.1002/mds.24980Test

المؤلفون: Hanns Lochmüller, Bertold Schrank, Rolf Stucka, Elke Holinski-Feder, Angela Abicht, Jürgen Seeger, Rita Horvath, Ulrich Lörcher, Solvig Müller-Ziermann, Angela Pyle, Birgit Czermin

المصدر: Neuromuscular Disorders. 20:720-724

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Respiratory Chain Deficiency, Cytochrome-c Oxidase Deficiency, Basal Ganglia, Electron Transport Complex IV, Sex Factors, Neuroimaging, Basal ganglia, Humans, Medicine, Cytochrome c oxidase, In patient, Child, Muscle, Skeletal, Gene, Genetics (clinical), Dystonia, biology, business.industry, Microfilament Proteins, medicine.disease, Magnetic Resonance Imaging, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), Leigh Disease, Cognition Disorders, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da54c9114ff4f6bc4ba73660a0aaafaeTest
https://doi.org/10.1016/j.nmd.2010.06.017Test

المؤلفون: David N, Herrmann, Rita, Horvath, Janet E, Sowden, Michael, Gonzalez, Michael, Gonzales, Avencia, Sanchez-Mejias, Zhuo, Guan, Roger G, Whittaker, Jorge L, Almodovar, Maria, Lane, Boglarka, Bansagi, Angela, Pyle, Veronika, Boczonadi, Hanns, Lochmüller, Helen, Griffin, Patrick F, Chinnery, Thomas E, Lloyd, J Troy, Littleton, Stephan, Zuchner

المساهمون: Massachusetts Institute of Technology. Department of Biology, Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences, Picower Institute for Learning and Memory, Littleton, J. Troy, Guan, Zhuo

المصدر: Prof. Littleton

مصطلحات موضوعية: Male, Pathology, medicine.disease_cause, Synaptic Transmission, Synaptotagmin II, Missense mutation, Medicine, Genetics(clinical), Child, Genetics (clinical), Genes, Dominant, Genetics, Mutation, 0303 health sciences, 030305 genetics & heredity, Peripheral Nervous System Diseases, Middle Aged, Cell biology, 3. Good health, Pedigree, Synaptic vesicle exocytosis, Electrophysiology, Lambert-Eaton Myasthenic Syndrome, medicine.anatomical_structure, Drosophila, Female, Erratum, Lambert-Eaton myasthenic syndrome, Adult, medicine.medical_specialty, endocrine system, Adolescent, Biology, Neurotransmission, Synaptic vesicle, Neuromuscular junction, Synaptotagmin 1, Exocytosis, 03 medical and health sciences, Young Adult, Report, Animals, Humans, Motor Neuron Disease, 030304 developmental biology, Aged, business.industry, medicine.disease, Human genetics, Autosomal dominant form, business, Motor neuropathy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d71e9f753067c3308aba45fc083e3824Test
https://pubmed.ncbi.nlm.nih.gov/25192047Test

المؤلفون: Helen Griffin, Rita Horvath, Aurora Gomez-Duran, Konstantinos Douroudis, Marina Bartsakoulia, Angela Pyle, Hanns Lochmüller, Tania Smertenko, Veronika Karcagi, Gail Eglon, Patrick Yu-Wai-Man, Veronika Boczonadi, Venkateswaran Ramesh, Jennifer Duff, Emma L. Blakely, Agnes Herczegfalvi, Mauro Santibanez-Koref, Robert W. Taylor, Patrick F. Chinnery, David Moore

المساهمون: Yu Wai Man, Patrick [0000-0001-7847-9320], Chinnery, Patrick [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, peripheral neuropathy, spastic paraplegia, Mitochondrial translation, business.industry, Nonsense mutation, ataxia, medicine.disease, mitochondrial translation, 3. Good health, Ophthalmoparesis, Peripheral neuropathy, Atrophy, Neurology, medicine, Behr’s syndrome, optic atrophy, Neurology (clinical), medicine.symptom, business, Gene, Exome sequencing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9569ea050f394dd1213ab9e339e71e63Test
https://www.repository.cam.ac.uk/handle/1810/290355Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b8f092916ac109b068ca565fe945cbaTest
http://hdl.handle.net/11655/14508Test

المؤلفون: L.V.B. Anderson, Keith Davison, Kate Bushby, Robert Pogue, Angela Pyle, C Pollitt

المصدر: Neuromuscular Disorders. 11:287-296

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Muscular Dystrophies, Atrophy, medicine, Humans, Muscular dystrophy, Muscle, Skeletal, Genetics (clinical), Muscle contracture, Muscle biopsy, Pelvic girdle, medicine.diagnostic_test, Calpain, business.industry, Middle Aged, medicine.disease, Phenotype, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Presentation (obstetrics), business, Limb-girdle muscular dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7a703cc9fe2d5eb61686205e4a6a28Test
https://doi.org/10.1016/s0960-8966Test(00)00197-8

المؤلفون: Michael Larsen, Gitte J Almind, Robert W. Taylor, Patrick Yu-Wai-Man, Patrick F. Chinnery, Karen Grønskov, Kamil S. Sitarz, Rita Horvath, Birgit Czermin, Angela Pyle

المصدر: Neurology. 79(14)

مصطلحات موضوعية: Male, Mitochondrial DNA, Pathology, medicine.medical_specialty, DNA Copy Number Variations, Visual Acuity, Biology, medicine.disease_cause, Retinal ganglion, DNA, Mitochondrial, GTP Phosphohydrolases, Optic neuropathy, Cohort Studies, Atrophy, Germany, Biopsy, Optic Atrophy, Autosomal Dominant, medicine, Leukocytes, Cytochrome c oxidase, Humans, Inner mitochondrial membrane, Clinical/Scientific Notes, Cell Proliferation, Netherlands, Mutation, medicine.diagnostic_test, medicine.disease, eye diseases, England, biology.protein, Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dca1fbd6c1f033d5cc66a20b298971dTest
https://pubmed.ncbi.nlm.nih.gov/22993284Test

المؤلفون: Rita Horvath, Patrick F. Chinnery, Pavel Seeman, Patrick Yu-Wai-Man, Joanna Stewart, Angela Pyle, Bernd Rautenstrauss, Kamil S. Sitarz, Mary M. Reilly

المساهمون: Yu Wai Man, Patrick [0000-0001-7847-9320], Horvath, Rita [0000-0002-9841-170X], Chinnery, Patrick [0000-0002-7065-6617], Apollo - University of Cambridge Repository

المصدر: Brain

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Mitochondrial DNA, MFN2, Respiratory chain, Biology, medicine.disease_cause, DNA, Mitochondrial, GTP Phosphohydrolases, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Atrophy, medicine, Missense mutation, Humans, Letters to the Editor, 030304 developmental biology, 0303 health sciences, Mutation, Cerebellar ataxia, Multiple mitochondrial DNA deletions, Mitochondrial Myopathies, medicine.disease, 3. Good health, Optic Atrophy, Female, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

وصف الملف: text; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::241f106e2171d13ee86f47d17ba9d74fTest
https://pubmed.ncbi.nlm.nih.gov/22189565Test