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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 1967, doi. 10.1093/brain/awae057
By:
- Blickhäuser, Beryll;
- Stenton, Sarah L;
- Neuhofer, Christiane M;
- Floride, Elisa;
- Nesbitt, Victoria;
- Fratter, Carl;
- Koch, Johannes;
- Kauffmann, Birgit;
- Catarino, Claudia;
- Schlieben, Lea Dewi;
- Kopajtich, Robert;
- Carelli, Valerio;
- Sadun, Alfredo A;
- McFarland, Robert;
- Fang, Fang;
- Morgia, Chiara La;
- Paquay, Stéphanie;
- Nassogne, Marie Cécile;
- Ghezzi, Daniele;
- Lamperti, Costanza
Publication type:
Article
Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.
Published in:
Journal of Clinical Medicine, 2017, v. 6, n. 8, p. 80, doi. 10.3390/jcm6080080
By:
- Morovat, Alireza;
- Weerasinghe, Gayani;
- Nesbitt, Victoria;
- Hofer, Monika;
- Agnew, Thomas;
- Quaghebeur, Geralrine;
- Sergeant, Kate;
- Fratter, Carl;
- Guha, Nishan;
- Mirzazadeh, Mehdi;
- Poulton, Joanna
Publication type:
Article
Risk and causes of death in children with a seizure disorder.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 7, p. 612, doi. 10.1111/j.1469-8749.2012.04295.x
By:
- NESBITT, VICTORIA;
- KIRKPATRICK, MARTIN;
- PEARSON, GALE;
- COLVER, ALLAN;
- FORSYTH, ROB
Publication type:
Article
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 6, p. 500, doi. 10.1111/j.1469-8749.2012.04224.x
By:
- NESBITT, VICTORIA;
- MORRISON, PATRICK J;
- CRUSHELL, ELLEN;
- DONNELLY, DEIRDRE E;
- ALSTON, CHARLOTTE L;
- HE, LANGPING;
- MCFARLAND, ROBERT;
- TAYLOR, ROBERT W
Publication type:
Article
A national perspective on prenatal testing for mitochondrial disease.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1255, doi. 10.1038/ejhg.2014.35
By:
- Nesbitt, Victoria;
- Alston, Charlotte L;
- Blakely, Emma L;
- Fratter, Carl;
- Feeney, Catherine L;
- Poulton, Joanna;
- Brown, Garry K;
- Turnbull, Doug M;
- Taylor, Robert W;
- McFarland, Robert
Publication type:
Article
Disease progression in patients with single, large-scale mitochondrial DNA deletions.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 323, doi. 10.1093/brain/awt321
By:
- Grady, John P.;
- Campbell, Georgia;
- Ratnaike, Thiloka;
- Blakely, Emma L.;
- Falkous, Gavin;
- Nesbitt, Victoria;
- Schaefer, Andrew M.;
- McNally, Richard J.;
- Gorman, Grainne S.;
- Taylor, Robert W.;
- Turnbull, Doug M.;
- McFarland, Robert
Publication type:
Article
Christmas special: A double-blind study to determine the best caterpillar cake in a paediatric ward environment.
Published in:
Diabetes Care for Children & Young People, 2021, v. 11, n. 1, p. 1
By:
- Nesbitt, Victoria;
- Sze May Ng
Publication type:
Article
Age at diagnosis, anthropometry and birthweight in two ethnically different cohorts of children with type 1 diabetes living in Northwest England or Singapore.
Published in:
Acta Paediatrica, 2022, v. 111, n. 5, p. 1070, doi. 10.1111/apa.16274
By:
- Ng, Sze May;
- Chandrasekaran, Surendran;
- Nesbitt, Victoria;
- Grey, Alexandra;
- Lim, Pei Kwee;
- Hui, Yuen Ching;
- Lek, Ngee
Publication type:
Article
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Published in:
Annals of Neurology, 2022, v. 91, n. 1, p. 117, doi. 10.1002/ana.26260
By:
- Lim, Albert Z.;
- Ng, Yi Shiau;
- Blain, Alasdair;
- Jiminez‐Moreno, Cecilia;
- Alston, Charlotte L.;
- Nesbitt, Victoria;
- Simmons, Louise;
- Santra, Saikat;
- Wassmer, Evangeline;
- Blakely, Emma L.;
- Turnbull, Doug M.;
- Taylor, Robert W.;
- Gorman, Gráinne S.;
- McFarland, Robert
Publication type:
Article
Epilepsy in adults with mitochondrial disease: A cohort study.
Published in:
2015
By:
- Whittaker, Roger G.;
- Devine, Helen E.;
- Gorman, Grainne S.;
- Schaefer, Andrew M.;
- Horvath, Rita;
- Ng, Yi;
- Nesbitt, Victoria;
- Lax, Nichola Z.;
- McFarland, Robert;
- Cunningham, Mark O.;
- Taylor, Robert W.;
- Turnbull, Douglass M.
Publication type:
journal article

Found: 10