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Dr Charlotte L Alston
Dr Charlotte L Alston
Wellcome Centre for Mitochondrial Research
Verifierad e-postadress på ncl.ac.uk - Startsida
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Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
GS Gorman, AM Schaefer, Y Ng, N Gomez, EL Blakely, CL Alston, ...
Annals of neurology 77 (5), 753-759, 2015
9192015
Cognitive reserve and the neurobiology of cognitive aging
LJ Whalley, IJ Deary, CL Appleton, JM Starr
Ageing research reviews 3 (4), 369-382, 2004
6842004
The genetics and pathology of mitochondrial disease
CL Alston, MC Rocha, NZ Lax, DM Turnbull, RW Taylor
The Journal of pathology 241 (2), 236-250, 2017
4652017
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
RW Taylor, A Pyle, H Griffin, EL Blakely, J Duff, L He, T Smertenko, ...
Jama 312 (1), 68-77, 2014
3682014
Mitochondrial protein interaction mapping identifies regulators of respiratory chain function
BJ Floyd, EM Wilkerson, MT Veling, CE Minogue, C Xia, ET Beebe, ...
Molecular cell 63 (4), 621-632, 2016
2702016
Recent advances in mitochondrial disease
L Craven, CL Alston, RW Taylor, DM Turnbull
Annual review of genomics and human genetics 18, 257-275, 2017
2452017
mt DNA heteroplasmy level and copy number indicate disease burden in m. 3243A> G mitochondrial disease
JP Grady, SJ Pickett, YS Ng, CL Alston, EL Blakely, SA Hardy, CL Feeney, ...
EMBO molecular medicine 10 (6), e8262, 2018
2202018
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations
JW Yarham, M Al‐Dosary, EL Blakely, CL Alston, RW Taylor, JL Elson, ...
Human mutation 32 (11), 1319-1325, 2011
1872011
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
G Pfeffer, GS Gorman, H Griffin, M Kurzawa-Akanbi, EL Blakely, I Wilson, ...
Brain 137 (5), 1323-1336, 2014
1712014
Recent advances in understanding the molecular genetic basis of mitochondrial disease
K Thompson, JJ Collier, RIC Glasgow, FM Robertson, A Pyle, EL Blakely, ...
Journal of inherited metabolic disease 43 (1), 36-50, 2020
1452020
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
CL Alston, JE Davison, F Meloni, FH van der Westhuizen, L He, ...
Journal of medical genetics 49 (9), 569-577, 2012
1352012
Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number
K Thompson, H Majd, C Dallabona, K Reinson, MS King, CL Alston, L He, ...
The American Journal of Human Genetics 99 (4), 860-876, 2016
1292016
Recessive mutations in TRMT10C cause defects in mitochondrial RNA processing and multiple respiratory chain deficiencies
MD Metodiev, K Thompson, CL Alston, AAM Morris, L He, Z Assouline, ...
The American Journal of Human Genetics 98 (5), 993-1000, 2016
1122016
Urine heteroplasmy is the best predictor of clinical outcome in the m. 3243A> G mtDNA mutation
RG Whittaker, JK Blackwood, CL Alston, EL Blakely, JL Elson, ...
Neurology 72 (6), 568-569, 2009
1102009
Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement
TB Haack, CB Jackson, K Murayama, LS Kremer, A Schaller, ...
Annals of clinical and translational neurology 2 (5), 492-509, 2015
1062015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
M Oláhová, SA Hardy, J Hall, JW Yarham, TB Haack, WC Wilson, ...
Brain 138 (12), 3503-3519, 2015
1032015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
U Ahting, JA Mayr, AV Vanlander, SA Hardy, S Santra, C Makowski, ...
Frontiers in genetics 6, 123, 2015
1012015
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
RDS Pitceathly, C Smith, C Fratter, CL Alston, L He, K Craig, EL Blakely, ...
Brain 135 (11), 3392-3403, 2012
1012012
TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies
CA Powell, R Kopajtich, AR D’Souza, J Rorbach, LS Kremer, RA Husain, ...
The American Journal of Human Genetics 97 (2), 319-328, 2015
962015
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ...
Genome medicine 14 (1), 38, 2022
942022
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Artiklar 1–20