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Mutations in the SPG7 gene cause chronic progressive extern..:
Pfeffer, Gerald
;
Gorman, Gráinne S
;
Griffin, Helen
...
https://www.repository.cam.ac.uk/handle/1810/290360. , 2014
Link:
https://www.repository.cam.ac.uk/handle/1810/290360
RT Journal T1
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
UL https://suche.suub.uni-bremen.de/peid=base-ftunivcam:oai:www.repository.cam.ac.uk:1810_290360&Exemplar=1&LAN=DE A1 Pfeffer, Gerald A1 Gorman, Gráinne S A1 Griffin, Helen A1 Kurzawa-Akanbi, Marzena A1 Blakely, Emma L A1 Wilson, Ian A1 Sitarz, Kamil A1 Moore, David A1 Murphy, Julie L A1 Alston, Charlotte L A1 Pyle, Angela A1 Coxhead, Jon A1 Payne, Brendan A1 Gorrie, George H A1 Longman, Cheryl A1 Hadjivassiliou, Marios A1 McConville, John A1 Dick, David A1 Imam, Ibrahim A1 Hilton, David A1 Norwood, Fiona A1 Baker, Mark R A1 Jaiser, Stephan R A1 Yu-Wai-Man, Patrick A1 Farrell, Michael A1 McCarthy, Allan A1 Lynch, Timothy A1 McFarland, Robert A1 Schaefer, Andrew M A1 Turnbull, Douglass M A1 Horvath, Rita A1 Taylor, Robert W A1 Chinnery, Patrick F PB Oxford University Press (OUP); http://dx.doi.org/10.1093/brain/awu060; Brain YR 2014 K1 SPG7 K1 chronic progressive external ophthalmoplegia K1 hereditary spastic paraplegia K1 mtDNA maintenance K1 paraplegin K1 ATPases Associated with Diverse Cellular Activities K1 Aged K1 Chronic Disease K1 DNA Mutational Analysis K1 DNA K1 Mitochondrial K1 Electric Stimulation K1 Electron Transport Complex IV K1 Evoked Potentials K1 Motor K1 Female K1 Genetic Association Studies K1 Humans K1 Magnetic Resonance Imaging K1 Male K1 Metalloendopeptidases K1 Middle Aged K1 Mitochondrial Diseases K1 Muscle K1 Skeletal K1 Mutation K1 Ophthalmoplegia K1 Chronic Progressive External K1 Phenotype K1 Reaction Time JF https://www.repository.cam.ac.uk/handle/1810/290360 LK http://dx.doi.org/https://www.repository.cam.ac.uk/handle/1810/290360 DO https://www.repository.cam.ac.uk/handle/1810/290360 SF ELIB - SuUB Bremen
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