Browse by UCL people
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Number of items: 7.
Article
Bugiardini, E;
Mitchell, AL;
Rosa, ID;
Horning-Do, H-T;
Pitmann, A;
Poole, OV;
Holton, JL;
... Spinazzola, A; + view all
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Human Molecular Genetics
10.1093/hmg/ddz093.
(In press).
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Bugiardini, E;
Poole, OV;
Manole, A;
Pittman, AM;
Horga, A;
Hargreaves, I;
Woodward, CE;
... Pitceathly, RDS; + view all
(2017)
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.
Neurology Genetics
, 3
(3)
, Article e149. 10.1212/NXG.0000000000000149.
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Bugiardini, E;
Pope, S;
Feichtinger, RG;
Poole, OV;
Pittman, AM;
Woodward, CE;
Heales, S;
... Pitceathly, RDS; + view all
(2019)
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
Journal Of Clinical Medicine
, 8
(7)
, Article 991. 10.3390/jcm8070991.
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Holmes, S;
Male, AJ;
Ramdharry, G;
Woodward, C;
James, N;
Skorupinska, I;
Skorupinska, M;
... Pitceathly, RDS; + view all
(2018)
Vestibular dysfunction: a frequent problem for adults with mitochondrial disease.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2018-319267.
(In press).
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Poole, OV;
Everett, CM;
Gandhi, S;
Marino, S;
Bugiardini, E;
Woodward, C;
Lam, A;
... Pitceathly, RDS; + view all
(2019)
Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.
Mitochondrion
, 47
pp. 294-297.
10.1016/j.mito.2019.02.004.
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Poole, OV;
Horga, A;
Hardy, SA;
Bugiardini, E;
Woodward, CE;
Hargreaves, IP;
Merve, A;
... Pitceathly, RDS; + view all
(2020)
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.
Neurology Genetics
, 6
(2)
, Article e413. 10.1212/nxg.0000000000000413.
(In press).
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Poole, OV;
Uchiyama, T;
Skorupinska, I;
Skorupinska, M;
Germain, L;
Kozyra, D;
Holmes, S;
... Pitceathly, RDS; + view all
(2019)
Urogenital symptoms in mitochondrial disease: overlooked and undertreated.
European Journal of Neurology
, 26
(8)
pp. 1111-1120.
10.1111/ene.13952.
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