Browse by UCL people
Group by: Type | Date
Number of items: 9.
2023
O'Callaghan, Benjamin;
Hardy, John;
Plun-Favreau, Helene;
(2023)
PINK1: From Parkinson's disease to mitophagy and back again.
PLoS Biology
, 21
(6)
, Article e3002196. 10.1371/journal.pbio.3002196.
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Pocratsky, Amanda M;
Nascimento, Filipe;
Özyurt, M Görkem;
White, Ian J;
Sullivan, Roisin;
O'Callaghan, Benjamin J;
Smith, Calvin C;
... Brownstone, Robert M; + view all
(2023)
Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction.
Science Translational Medicine
, 15
(694)
, Article eadg3904. 10.1126/scitranslmed.adg3904.
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2021
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Gayathri, S;
Gowda, VK;
Udhayabanu, T;
O'Callaghan, B;
Efthymiou, S;
Varalakshmi, P;
Benakappa, N;
... Ashokkumar, B; + view all
(2021)
Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.
European Journal of Neurology
, 28
(3)
pp. 945-954.
10.1111/ene.14682.
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O'Callaghan, Benjamin John;
(2021)
Development of an in vitro Model to Explore the Impact of mtDNA Mutations on the Metabolism and Epigenome of Myogenic Cells.
Doctoral thesis (Ph.D), UCL (University College London).
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2020
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Hostettler, IC;
O'Callaghan, B;
Bugiardini, E;
O'Connor, E;
Vandrovcova, J;
Davagnanam, I;
Alg, V;
... Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study, .; + view all
(2020)
ANGPTL6 genetic variants are an underlying cause of familial intracranial aneurysms.
Neurology
10.1212/WNL.0000000000011125.
(In press).
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Schottlaender, LV;
Abeti, R;
Jaunmuktane, Z;
Macmillan, C;
Chelban, V;
O'Callaghan, B;
McKinley, J;
... Houlden, H; + view all
(2020)
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
AJHG
, 106
(3)
pp. 412-421.
10.1016/j.ajhg.2020.02.007.
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Wu, Z;
Lape, R;
Jopp-Saile, L;
O'Callaghan, BJ;
Greiner, T;
Sivilotti, LG;
(2020)
The Startle disease mutation, α1S270T, predicts shortening of glycinergic synaptic currents.
The Journal of Physiology
, 598
(16)
pp. 3417-3438.
10.1113/JP279803.
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2019
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O'Callaghan, B;
Houlden, H;
Bosch, AM;
(2019)
An Update on the Genetics, Clinical Presentation and Pathomechanisms of Human Riboflavin Transporter Deficiency.
Journal of Inherited Metabolic Disease
, 42
(4)
pp. 598-607.
10.1002/jimd.12053.
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2018
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Sampedro Castañeda, M;
Zanoteli, E;
Scalco, RS;
Scaramuzzi, V;
Marques Caldas, V;
Conti Reed, U;
da Silva, AMS;
... Matthews, E; + view all
(2018)
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Brain
, 141
(12)
pp. 3308-3318.
10.1093/brain/awy283.
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