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Laurence Bindoff
Laurence Bindoff
Unversity of Bergen & Haukeland University Hospital
Verified email at uib.no
Title
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Cited by
Year
Correlation between genetic and geographic structure in Europe
O Lao, TT Lu, M Nothnagel, O Junge, S Freitag-Wolf, A Caliebe, ...
Current Biology 18 (16), 1241-1248, 2008
6072008
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
ARJ Curtis, C Fey, CM Morris, LA Bindoff, PG Ince, PF Chinnery, ...
Nature genetics 28 (4), 350-354, 2001
5972001
The epidemiology of pathogenic mitochondrial DNA mutations
PF Chinnery, MA Johnson, TM Wardell, R Singh‐Kler, C Hayes, ...
Annals of Neurology: Official Journal of the American Neurological …, 2000
5592000
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
N Howell, LA Bindoff, DA McCullough, I Kubacka, J Poulton, D Mackey, ...
American journal of human genetics 49 (5), 939, 1991
4741991
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
A Suomalainen, JM Elo, KH Pietiläinen, AH Hakonen, K Sevastianova, ...
The Lancet Neurology 10 (9), 806-818, 2011
4592011
Multi-system neurological disease is common in patients with OPA1 mutations
P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco, AF Wright, ...
Brain 133 (3), 771-786, 2010
4362010
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases
C Tzoulis, BA Engelsen, W Telstad, J Aasly, M Zeviani, S Winterthun, ...
Brain 129 (7), 1685-1692, 2006
3642006
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
AH Hakonen, S Heiskanen, V Juvonen, I Lappalainen, PT Luoma, ...
The American Journal of Human Genetics 77 (3), 430-441, 2005
3582005
An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria
MA Birchmachin, HL Briggs, AA Saborido, LA BINDoFF, DM Turnbull
Biochemical medicine and metabolic biology 51 (1), 35-42, 1994
3291994
Mitochondrial function in Parkinson's disease
LA Bindoff, MM BIRCH, NEF CARTIDGE
LANCET 1, 49-49, 1989
3131989
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations
S Winterthun, G Ferrari, L He, RW Taylor, M Zeviani, DM Turnbull, ...
Neurology 64 (7), 1204-1208, 2005
2762005
Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease
LA Bindoff, MA Birch-Machin, NEF Cartlidge, WD Parker Jr, DM Turnbull
Journal of the neurological sciences 104 (2), 203-208, 1991
2751991
Risk of developing a mitochondrial DNA deletion disorder
PF Chinnery, S DiMauro, S Shanske, EA Schon, M Zeviani, C Mariotti, ...
The Lancet 364 (9434), 592-596, 2004
2722004
Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease
C Dölle, I Flønes, GS Nido, H Miletic, N Osuagwu, S Kristoffersen, ...
Nature communications 7 (1), 13548, 2016
2452016
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.
K Weber, JN Wilson, L Taylor, E Brierley, MA Johnson, DM Turnbull, ...
American journal of human genetics 60 (2), 373, 1997
2421997
A multicenter study on Leigh syndrome: disease course and predictors of survival
K Sofou, IFM De Coo, P Isohanni, E Ostergaard, K Naess, L De Meirleir, ...
Orphanet journal of rare diseases 9, 1-16, 2014
2402014
Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism
T Fiskerstrand, DHB Brahim, S Johansson, A M'zahem, BI Haukanes, ...
The American Journal of Human Genetics 87 (3), 410-417, 2010
2312010
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
ZA Jenkins, M van Kogelenberg, T Morgan, A Jeffs, R Fukuzawa, E Pearl, ...
Nature genetics 41 (1), 95-100, 2009
2172009
Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form
J Poulton, ME Deadman, L Bindoff, K Morten, J Land, G Brown
Human Molecular Genetics 2 (1), 23-30, 1993
2121993
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.
LA Bindoff, N Howell, J Poulton, DA McCullough, KJ Morten, ...
Journal of Biological Chemistry 268 (26), 19559-19564, 1993
2071993
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