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Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
Published in:
Nature Genetics, 2001, v. 28, n. 4, p. 350, doi. 10.1038/ng571
By:
- Curtis, Andrew R.J.;
- Fey, Constanze;
- Morris, Christopher M;
- Bindoff, Laurence A.;
- Ince, Paul G.;
- Chinnery, Patrick F.;
- Coulthard, Alan;
- Jackson, Margaret J.;
- Jackson, Andrew P.;
- McHale, Duncan P.;
- Hay, David;
- Barker, William A.;
- Markham, Alex F.;
- Bates, David;
- Curtis, Ann;
- Burn, John
Publication type:
Article
A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.
Published in:
FEBS Journal, 2005, v. 272, n. 14, p. 3583, doi. 10.1111/j.1742-4658.2005.04779.x
By:
- Blakely, Emma L.;
- Mitchell, Anna L.;
- Fisher, Nicholas;
- Meunier, Brigitte;
- Nijtmans, Leo G.;
- Schaefer, Andrew M.;
- Jackson, Margaret J.;
- Turnbull, Douglass M.;
- Taylor, Robert W.
Publication type:
Article
Concise guidance: diagnosis and management of the epilepsies in adults.
Published in:
Clinical Medicine, 2014, v. 14, n. 4, p. 422, doi. 10.7861/clinmedicine.14-4-422
By:
- Jackson, Margaret J.
Publication type:
Article
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 1, p. 110
By:
- Patrick F. Chinnery;
- Douglas E. Crompton;
- Daniel Birchall;
- Margaret J. Jackson;
- Alan Coulthard;
- Anne LombÃ¨s;
- Niall Quinn;
- Adrian Wills;
- Nicholas Fletcher;
- John P. Mottershead;
- Paul Cooper;
- Mark Kellett;
- David Bates;
- John Burn
Publication type:
Article
Insulin and proinsulin secretion in subjects with abnormal glucose tolerance and a mitochondrial tRNA(Leu(UUR)) mutation.
Published in:
1995
By:
- Walker, Mark;
- Taylor, Robert W.;
- Stewart, Murray W.;
- Bindoff, Laurie A.;
- Shearing, Patricia A.;
- Anyaoku, Victor;
- Jackson, Margaret J.;
- Humphriss, David B.;
- Johnston, Desmond G.;
- Alberti, K. George M. M.;
- Turnbull, Douglas M.;
- Walker, M;
- Taylor, R W;
- Stewart, M W;
- Bindoff, L A;
- Shearing, P A;
- Anyaoku, V;
- Jackson, M J;
- Humphriss, D B;
- Johnston, D G
Publication type:
research
Insulin sensitivity and mitochondrial gene mutation.
Published in:
1995
By:
- Walker, Mark;
- Taylor, Robert W.;
- Stewart, Murray W.;
- Bindoff, Laurie A.;
- Jackson, Margaret J.;
- Alberti, George K. M. M.;
- Turnbull, Douglass M.;
- Kanamori, Akira;
- Tanaka, Keiji;
- Umezawa, Shin-chi;
- Matoba, Kiyozaku;
- Fujita, Yoshikuni;
- Tajima, Yoshitada;
- Walker, M;
- Taylor, R W;
- Stewart, M W;
- Bindoff, L A;
- Jackson, M J;
- Alberti, G K;
- Turnbull, D M
Publication type:
commentary
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
Published in:
1994
By:
- Jackson, Margaret J.;
- Bindoff, Laurence A.;
- Weber, Katharina;
- Wilson, Jonathan N.;
- Ince, Paul;
- Alberti, K. George M. M.;
- Turnbull, Douglass M.;
- Jackson, M J;
- Bindoff, L A;
- Weber, K;
- Wilson, J N;
- Ince, P;
- Alberti, K G;
- Turnbull, D M
Publication type:
journal article
Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia.
Published in:
Annals of Neurology, 1996, v. 39, n. 2, p. 224, doi. 10.1002/ana.410390212
By:
- Taylor, Robert W.;
- Birch-Machin, Mark A.;
- Schaefer, Jochen;
- Taylor, Louise;
- Shakir, Raad;
- Ackrell, Brian A. C.;
- Cochran, Bruce;
- Bindoff, Laurence A.;
- Jackson, Margaret J.;
- Griffiths, Philip;
- Turnbull, Douglass M.
Publication type:
Article
Spectrum of movement disorders in neuroferritinopathy.
Published in:
Movement Disorders, 2005, v. 20, n. 1, p. 95, doi. 10.1002/mds.20284
By:
- Crompton, Douglas E.;
- Chinnery, Patrick F.;
- Bates, David;
- Walls, Timothy J.;
- Jackson, Margaret J.;
- Curtis, Andrew J.;
- Burn, John
Publication type:
Article

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