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1دورية أكاديمية
المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Kalkan Ucar, S, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Barić, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Garcia Silva, MT, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Hörster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB
مصطلحات موضوعية: Adolescent, Adult, Amino Acid Sequence, Carboxylic Ester Hydrolases, Child, Preschool, Cohort Studies, Deaf-Blind Disorders, Dystonia, Female, Humans, Infant, Newborn, Intellectual Disability, Male, Mutation, Optic Atrophy, Young Adult, Disease Progression, HDE MTB
العلاقة: Ann Neurol. 2017 Dec;82(6):1004-1015; http://hdl.handle.net/10400.17/3195Test
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2دورية أكاديميةAdults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
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/
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3دورية أكاديمية
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
الإتاحة: https://doi.org/10.17863/CAM.37598Test
https://www.repository.cam.ac.uk/handle/1810/290368Test -
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المؤلفون: Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R
المصدر: Annals of Neurology
مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Mitochondrial Diseases, Adolescent, Genetic Variation, Middle Aged, Mitochondrial Proton-Translocating ATPases, Brief Communication, United Kingdom, Cohort Studies, Young Adult, Humans, Female, Brief Communications, Child, Aged, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5e406cb62705e9180f68b1e21123416eTest
http://ora.ox.ac.uk/objects/uuidTest: -
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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
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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