المؤلفون: Pitceathly, RD, Smith, C, Fratter, C, Alston, CL, He, L, Craig, K, Blakely, EL, Evans, JC, Taylor, J, Shabbir, Z, Deschauer, M, Pohl, U, Roberts, ME, Jackson, MC, Halfpenny, CA, Turnpenny, PD, Lunt, PW, Hanna, MG, Schaefer, AM, McFarland, R, Horvath, R, Chinnery, PF, Turnbull, DM, Poulton, J, Taylor, RW, Gorman, GS

المصدر: Brain , 135 (11) 3392 -3403. (2012)

مصطلحات موضوعية: Adult, Aged, 80 and over, Brain diseases, Cell cycle proteins, Cohort studies, Gene deletion, Heterozygote, Humans, Middle aged, Mitochondrial myopathies, Models, Genetic, Muscle, Skeletal, Mutation, Missense, Neuromuscular Diseases, Phenotype, Ribonucleotide reductases

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1380635/1/Brain-2012-Pitceathly-3392-403.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1380635Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1380635/1/Brain-2012-Pitceathly-3392-403.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1380635Test/

المؤلفون: Yu-Wai-Man, P, Griffiths, PG, Gorman, GS, Lourenco, CM, Wright, AF, Auer-Grumbach, M, Toscano, A, Musumeci, O, Valentino, ML, Caporali, L, Lamperti, C, Tallaksen, CM, Duffey, P, Miller, J, Whittaker, RG, Baker, MR, Jackson, MJ, Clarke, MP, Dhillon, B, Czermin, B, Stewart, JD, Hudson, G, Reynier, P, Bonneau, D, Marques, W, Lenaers, G, McFarland, R, Taylor, RW, Turnbull, DM, Votruba, M, Zeviani, M, Carelli, V, Bindoff, LA, Horvath, R, Amati-Bonneau, P, Chinnery, PF

مصطلحات موضوعية: Adolescent, Adult, Aged, Central Nervous System Diseases, Child, Cohort Studies, DNA, Mitochondrial, Family, Female, GTP Phosphohydrolases, Heterozygote, Humans, Male, Middle Aged, Muscle, Skeletal, Mutation, Optic Atrophy, Autosomal Dominant, Phenotype, Young Adult

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/290368Test

الإتاحة: https://doi.org/10.17863/CAM.37598Test
https://www.repository.cam.ac.uk/handle/1810/290368Test

المؤلفون: Yu-Wai-Man, P, Griffiths, PG, Gorman, GS, Lourenco, CM, Wright, AF, Auer-Grumbach, M, Toscano, A, Musumeci, O, Valentino, ML, Caporali, L, Lamperti, C, Tallaksen, CM, Duffey, P, Miller, J, Whittaker, RG, Baker, MR, Jackson, MJ, Clarke, MP, Dhillon, B, Czermin, B, Stewart, JD, Hudson, G, Reynier, P, Bonneau, D, Marques, W, Lenaers, G, McFarland, R, Taylor, RW, Turnbull, DM, Votruba, M, Zeviani, M, Carelli, V, Bindoff, LA, Horvath, R, Amati-Bonneau, P, Chinnery, PF

مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Middle Aged, DNA, Mitochondrial, eye diseases, 3. Good health, GTP Phosphohydrolases, Cohort Studies, Young Adult, Phenotype, Central Nervous System Diseases, Mutation, Optic Atrophy, Autosomal Dominant, Humans, Family, Female, Child, Muscle, Skeletal, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::12725d42fc3c52821977f17c6e5cc972Test

المؤلفون: Joanna Stewart, Alan F. Wright, Mark R. Baker, P. Duffey, Patrick F. Chinnery, Birgit Czermin, Pascal Reynier, Patrizia Amati-Bonneau, Grainne S. Gorman, Dominique Bonneau, Douglass M. Turnbull, James Miller, Gavin Hudson, Costanza Lamperti, Baljean Dhillon, Michaela Auer-Grumbach, Margaret Jackson, Patrick Yu-Wai-Man, Michael P. Clarke, Charles Marques Lourenço, Marcela Votruba, Maria Lucia Valentino, Wilson Marques, Laurence A. Bindoff, Massimo Zeviani, Antonio Toscano, Chantal M. E. Tallaksen, Rita Horvath, Guy Lenaers, Robert McFarland, Roger G. Whittaker, Philip G. Griffiths, Leonardo Caporali, Olimpia Musumeci, Valerio Carelli, Robert W. Taylor

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, Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF, Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Yu-Wai-Man, P, Griffiths, P G, Gorman, G S, Lourenco, C M, Wright, A, Auer-Grumbach, M, Toscano, A, Musumeci, O, Valentino, M L, Caporali, L, Lamperti, C, Tallaksen, C M, Duffey, P, Miller, J, Whittaker, R G, Baker, M R, Jackson, M J, Clarke, M P, Dhillon, B, Czermin, B, Stewart, J D, Hudson, G, Reynier, P, Bonneau, D, Marques, W, Lenaers, G, McFarland, R, Taylor, R W, Turnbull, D M, Votruba, M, Zeviani, M, Carelli, V, Bindoff, L A, Horvath, R, Amati-Bonneau, P & Chinnery, P F 2010, ' Multi-system neurological disease is common in patients with OPA1 mutations ', Brain, vol. 133, pp. 771-786 . https://doi.org/10.1093/brain/awq007Test
Brain
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2010, 133 (3), pp.771-786. ⟨10.1093/brain/awq007⟩

مصطلحات موضوعية: Male, Pathology, [SDV]Life Sciences [q-bio], Hereditary spastic paraplegia, Neurological disorder, OPA1, GTP Phosphohydrolases, Optic neuropathy, Cohort Studies, 0302 clinical medicine, Central Nervous System Diseases, Medicine, Deletions, Child, 0303 health sciences, Skeletal, Middle Aged, Mitochondrial DNA, 3. Good health, Mitochondrial, Phenotype, Autosomal Dominant, Optic nerve, Muscle, Female, medicine.symptom, Adult, medicine.medical_specialty, Heterozygote, Ataxia, Dominant optic atrophy, Adolescent, Multiple sclerosis, Aged, DNA, Mitochondrial, Family, Humans, Muscle, Skeletal, Mutation, Optic Atrophy, Autosomal Dominant, Young Adult, optic atrophy, mitochondrial DNA, deletions, multiple sclerosis, 03 medical and health sciences, Atrophy, Letters to the Editor, 030304 developmental biology, business.industry, DELETION, Original Articles, DNA, medicine.disease, eye diseases, Optic Atrophy, Behr syndrome, Neurology (clinical), Mitochondrial optic neuropathies, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; STAMPA; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c4e2c40b79916278ce0c7faf4a43e2bTest
http://hdl.handle.net/11577/3354278Test