Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations
Winterthun, S, Ferrari, G, He, L, Taylor, R W, Zeviani, M, Turnbull, D M, Engelsen, B A, Moen, G, Bindoff, L A
Published in Neurology (12.04.2005)
Published in Neurology (12.04.2005)
Get more information
Journal Article
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
Hikmat, O., Tzoulis, C., Knappskog, P. M., Johansson, S., Boman, H., Sztromwasser, P., Lien, E., Brodtkorb, E., Ghezzi, D., Bindoff, L. A.
Published in European journal of neurology (01.07.2016)
Published in European journal of neurology (01.07.2016)
Get full text
Journal Article
The epidemiology of pathogenic mitochondrial DNA mutations
Chinnery, P. F., Johnson, M. A., Wardell, T. M., Singh-Kler, R., Hayes, C., Brown, D. T., Taylor, R. W., Bindoff, L. A., Turnbull, D. M.
Published in Annals of neurology (01.08.2000)
Published in Annals of neurology (01.08.2000)
Get full text
Journal Article
EFNS review on the role of muscle biopsy in the investigation of myalgia
Kyriakides, T., Angelini, C., Schaefer, J., Mongini, T., Siciliano, G., Sacconi, S., Joseph, J., Burgunder, J. M., Bindoff, L. A., Vissing, J., de Visser, M., Hilton-Jones, D.
Published in European journal of neurology (01.07.2013)
Published in European journal of neurology (01.07.2013)
Get full text
Journal Article
A novel Refsum-like disorder that maps to chromosome 20
Fiskerstrand, T, Knappskog, P, Majewski, J, Wanders, R J, Boman, H, Bindoff, L A
Published in Neurology (06.01.2009)
Published in Neurology (06.01.2009)
Get more information
Journal Article
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle
WEBER, K, WILSON, J. N, TAYLOR, L, BRIERLEY, E, JOHNSON, M. A, TURNBULL, D. M, BINDOFF, L. A
Published in American journal of human genetics (01.02.1997)
Get full text
Published in American journal of human genetics (01.02.1997)
Journal Article
Multi-system neurological disease is common in patients with OPA1 mutations
Yu-Wai-Man, P., Griffiths, P.G., Gorman, G.S., Lourenco, C.M., Wright, A.F., 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.
Published in Brain (London, England : 1878) (01.03.2010)
Published in Brain (London, England : 1878) (01.03.2010)
Get full text
Journal Article
Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure
Sanaker, P. S., Husebye, E. S., Fondenes, O., Bindoff, L. A.
Published in Acta neurologica Scandinavica (01.05.2007)
Published in Acta neurologica Scandinavica (01.05.2007)
Get full text
Journal Article
Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations
Tzoulis, C., Papingji, M., Fiskestrand, T., Røste, L. S., Bindoff, L. A.
Published in Acta neurologica Scandinavica (01.08.2009)
Published in Acta neurologica Scandinavica (01.08.2009)
Get full text
Journal Article
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene
Tzoulis, C., Denora, P. S., Santorelli, F. M., Bindoff, L. A.
Published in Journal of neurology (01.08.2008)
Published in Journal of neurology (01.08.2008)
Get full text
Journal Article
Unusual features in a boy with the rapsyn N88K mutation
Skeie, G O, Aurlien, H, Müller, J S, Lochmüller, H, Norgârd, G, Bindoff, L A
Published in Neurology (26.12.2006)
Published in Neurology (26.12.2006)
Get more information
Journal Article
Deficiency of respiratory chain complex I is a common cause of Leigh disease
Morris, A A, Leonard, J V, Brown, G K, Bidouki, S K, Bindoff, L A, Woodward, C E, Harding, A E, Lake, B D, Harding, B N, Farrell, M A, Bell, J E, Mirakhur, M, Turnbull, D M
Published in Annals of neurology (01.07.1996)
Published in Annals of neurology (01.07.1996)
Get more information
Journal Article
Opsoclonus myoclonus syndrome in two cases with neuroborreliosis
Skeie, G. O., Eldøen, G., Skeie, B. S., Midgard, R., Kristoffersen, E. K., Bindoff, L. A.
Published in European journal of neurology (01.12.2007)
Published in European journal of neurology (01.12.2007)
Get full text
Journal Article
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism
BINDOFF, L. A, HOWELL, N, POULTON, J, MCCULLOUGH, D. A, MORTEN, K. J, LIGHTOWLERS, R. N, TURNBULL, D. M, WEBER, K
Published in The Journal of biological chemistry (15.09.1993)
Published in The Journal of biological chemistry (15.09.1993)
Get full text
Journal Article
Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract
Chinnery, P F, Jones, S, Sviland, L, Andrews, R M, Parsons, T J, Turnbull, D M, Bindoff, L A
Published in Gut (01.01.2001)
Published in Gut (01.01.2001)
Get full text
Journal Article