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Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies.
Published in:
Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00985-8
By:
- Hatton, Christopher;
- Reeve, Amy;
- Lax, Nichola Zoe;
- Blain, Alasdair;
- Ng, Yi Shiau;
- El-Agnaf, Omar;
- Attems, Johannes;
- Taylor, John-Paul;
- Turnbull, Doug;
- Erskine, Daniel
Publication type:
Article
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
Published in:
EMBO Molecular Medicine, 2018, v. 10, n. 6, p. 1, doi. 10.15252/emmm.201708262
By:
- Grady, John P.;
- Pickett, Sarah J.;
- Ng, Yi Shiau;
- Alston, Charlotte L.;
- Blakely, Emma L.;
- Hardy, Steven A.;
- Feeney, Catherine L.;
- Bright, Alexandra A.;
- Schaefer, Andrew M.;
- Gorman, Gráinne S.;
- McNally, Richard J. Q.;
- Taylor, Robert W.;
- Turnbull, Doug M.;
- McFarland, Robert
Publication type:
Article
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Published in:
2022
By:
- Ng, Yi Shiau;
- Lax, Nichola Z;
- Blain, Alasdair P;
- Erskine, Daniel;
- Baker, Mark R;
- Polvikoski, Tuomo;
- Thomas, Rhys H;
- Morris, Christopher M;
- Lai, Ming;
- Whittaker, Roger G;
- Gebbels, Alasdair;
- Winder, Amy;
- Hall, Julie;
- Feeney, Catherine;
- Farrugia, Maria Elena;
- Hirst, Claire;
- Roberts, Mark;
- Lawthom, Charlotte;
- Chrysostomou, Alexia;
- Murphy, Kevin
Publication type:
journal article
Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9698, doi. 10.3390/ijms24119698
By:
- Olkhova, Elizaveta A.;
- Smith, Laura A.;
- Bradshaw, Carla;
- Gorman, Gráinne S.;
- Erskine, Daniel;
- Ng, Yi Shiau
Publication type:
Article
A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 6, p. 789, doi. 10.3390/jcm8060789
By:
- Zierz, Charlotte M.;
- Baty, Karen;
- Blakely, Emma L.;
- Hopton, Sila;
- Falkous, Gavin;
- Schaefer, Andrew M.;
- Hadjivassiliou, Marios;
- Sarrigiannis, Ptolemaios G.;
- Ng, Yi Shiau;
- Taylor, Robert W.
Publication type:
Article
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Published in:
Cerebellum, 2024, v. 23, n. 4, p. 1566, doi. 10.1007/s12311-023-01625-2
By:
- Ilg, Winfried;
- Milne, Sarah;
- Schmitz-Hübsch, Tanja;
- Alcock, Lisa;
- Beichert, Lukas;
- Bertini, Enrico;
- Mohamed Ibrahim, Norlinah;
- Dawes, Helen;
- Gomez, Christopher M.;
- Hanagasi, Hasmet;
- Kinnunen, Kirsi M.;
- Minnerop, Martina;
- Németh, Andrea H.;
- Newman, Jane;
- Ng, Yi Shiau;
- Rentz, Clara;
- Samanci, Bedia;
- Shah, Vrutangkumar V.;
- Summa, Susanna;
- Vasco, Gessica
Publication type:
Article
The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes.
Published in:
Life (2075-1729), 2020, v. 10, n. 9, p. 164, doi. 10.3390/life10090164
By:
- Chapman, James;
- Ng, Yi Shiau;
- Nicholls, Thomas J.
Publication type:
Article
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
Published in:
Scientific Reports, 2016, p. 30610, doi. 10.1038/srep30610
By:
- Vincent, Amy E.;
- Ng, Yi Shiau;
- White, Kathryn;
- Davey, Tracey;
- Mannella, Carmen;
- Falkous, Gavin;
- Feeney, Catherine;
- Schaefer, Andrew M.;
- McFarland, Robert;
- Gorman, Grainne S.;
- Taylor, Robert W.;
- Turnbull, Doug M.;
- Picard, Martin
Publication type:
Article
TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study.
Published in:
BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03907-6
By:
- Bangel, Katrin A.;
- Lim, Albert Z.;
- Blain, Alasdair;
- Ng, Yi Shiau;
- Winder, Amy;
- Bulmer, Joseph;
- Gorman, Grainne;
- Baker, Mark;
- McFarland, Robert
Publication type:
Article
T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants.
Published in:
Life Science Alliance, 2023, v. 6, n. 11, p. 1, doi. 10.26508/lsa.202302271
By:
- Franklin, Imogen G.;
- Milne, Paul;
- Childs, Jordan;
- Boggan, Róisín M.;
- Barrow, Isabel;
- Lawless, Conor;
- Gorman, Gráinne S.;
- Yi Shiau Ng;
- Collin, Matthew;
- Russell, Oliver M.;
- Pickett, Sarah J.
Publication type:
Article
Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 45, doi. 10.1002/jmd2.12107
By:
- Cotta, Ana;
- Alston, Charlotte L.;
- Baptista‐Junior, Sidney;
- Paim, Julia F.;
- Carvalho, Elmano;
- Navarro, Monica M.;
- Appleton, Marie;
- Ng, Yi Shiau;
- Valicek, Jaquelin;
- da‐Cunha‐Junior, Antonio L.;
- Lima, Maria I.;
- Rocque Ferreira, Alessandra;
- Takata, Reinaldo I.;
- Hargreaves, Iain P.;
- Gorman, Gráinne S.;
- McFarland, Robert;
- Pierre, Germaine;
- Taylor, Robert W.
Publication type:
Article
The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent‐onset POLG‐related mitochondrial disease.
Published in:
Epilepsia Open, 2018, v. 3, n. 1, p. 103, doi. 10.1002/epi4.12094
By:
- Ng, Yi Shiau;
- Ruiten, Henriette;
- Lai, H. Ming;
- Scott, Rebecca;
- Ramesh, Venkateswaran;
- Horridge, Karen;
- Taylor, Robert W.;
- Turnbull, Doug M.;
- Gorman, Gráinne S.;
- McFarland, Robert;
- Baker, Mark R.
Publication type:
Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Published in:
JAMA Neurology, 2017, v. 74, n. 6, p. 686, doi. 10.1001/jamaneurol.2016.4357
By:
- Sommerville, Ewen W.;
- Yi Shiau Ng;
- Alston, Charlotte L.;
- Dallabona, Cristina;
- Gilberti, Micol;
- Langping He;
- Knowles, Charlotte;
- Chin, Sophie L.;
- Schaefer, Andrew M.;
- Falkous, Gavin;
- Murdoch, David;
- Longman, Cheryl;
- de Visser, Marianne;
- Bindoff, Laurence A.;
- Rawles, John M.;
- Dean, John C. S.;
- Petty, Richard K.;
- Farrugia, Maria E.;
- Haack, Tobias B.;
- Prokisch, Holger
Publication type:
Article
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.
Published in:
JAMA Neurology, 2016, v. 73, n. 6, p. 668, doi. 10.1001/jamaneurol.2016.0355
By:
- Martikainen, Mika H.;
- Yi Shiau Ng;
- Gorman, Gráinne S.;
- Alston, Charlotte L.;
- Blakely, Emma L.;
- Schaefer, Andrew M.;
- Chinnery, Patrick F.;
- Burn, David J.;
- Taylor, Robert W.;
- McFarland, Robert;
- Turnbull, Doug M.
Publication type:
Article
Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.
Published in:
Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00024
By:
- Ng, Yi Shiau;
- Thompson, Kyle;
- Loher, Daniela;
- Hopton, Sila;
- Falkous, Gavin;
- Hardy, Steven A.;
- Schaefer, Andrew M.;
- Shaunak, Sandip;
- Roberts, Mark E.;
- Lilleker, James B.;
- Taylor, Robert W.
Publication type:
Article
Epilepsy due to mutations in the mitochondrial polymerase gamma ( POLG) gene: A clinical and molecular genetic review.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 10, p. 1531, doi. 10.1111/epi.13508
By:
- Anagnostou, Maria‐Eleni;
- Ng, Yi Shiau;
- Taylor, Robert W.;
- McFarland, Robert
Publication type:
Article
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.
Published in:
Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 333, doi. 10.1002/acn3.532
By:
- Pickett, Sarah J.;
- Grady, John P.;
- Ng, Yi Shiau;
- Gorman, Gráinne S.;
- Schaefer, Andrew M.;
- Wilson, Ian J.;
- Cordell, Heather J.;
- Turnbull, Doug M.;
- Taylor, Robert W.;
- McFarland, Robert
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
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Published in:
2019
By:
- Ng, Yi Shiau;
- Martikainen, Mika H.;
- Gorman, Gráinne S.;
- Blain, Alasdair;
- Bugiardini, Enrico;
- Bunting, Apphia;
- Schaefer, Andrew M.;
- Alston, Charlotte L.;
- Blakely, Emma L.;
- Sharma, Sunil;
- Hughes, Imelda;
- Lim, Albert;
- de Goede, Christian;
- McEntagart, Meriel;
- Spinty, Stefan;
- Horrocks, Iain;
- Roberts, Mark;
- Woodward, Cathy E.;
- Chinnery, Patrick F.;
- Horvath, Rita
Publication type:
journal article
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
Published in:
2018
By:
- Rocha, Mariana C.;
- Rosa, Hannah S.;
- Grady, John P.;
- Blakely, Emma L.;
- He, Langping;
- Romain, Nadine;
- Haller, Ronald G.;
- Newman, Jane;
- McFarland, Robert;
- Ng, Yi Shiau;
- Gorman, Grainne S.;
- Schaefer, Andrew M.;
- Tuppen, Helen A.;
- Taylor, Robert W.;
- Turnbull, Doug M.
Publication type:
journal article
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.
Published in:
2016
By:
- Ng, Yi Shiau;
- Feeney, Catherine;
- Schaefer, Andrew M.;
- Holmes, Carol Ellen;
- Hynd, Paula;
- Alston, Charlotte L.;
- Grady, John P.;
- Roberts, Mark;
- Maguire, Mellisa;
- Bright, Alexandra;
- Taylor, Robert W.;
- Yiannakou, Yan;
- McFarland, Robert;
- Turnbull, Doug M.;
- Gorman, Gráinne S.;
- Gorman, Gráinne S
Publication type:
journal article
Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome".
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 6, doi. 10.1002/jimd.12329
By:
- Bindoff, Laurence A.;
- Brown, David A.;
- Gorman, Gráinne S.;
- Karaa, Amel;
- Keshavan, Nandaki;
- Lamperti, Constanza;
- Mancuso, Michelangelo;
- McFarland, Robert;
- Ng, Yi Shiau;
- O'Callaghan, Mar;
- Pitceathly, Robert D. S.;
- Rahman, Shamima;
- Russel, Frans G. M.;
- Schirris, Tom J. J.;
- Varhaug, Kristin N.;
- De Vries, Maaike C.
Publication type:
Article
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 800, doi. 10.1002/jimd.12196
By:
- De Vries, Maaike C.;
- Brown, David A.;
- Allen, Mitchell E.;
- Bindoff, Laurence;
- Gorman, Gráinne S.;
- Karaa, Amel;
- Keshavan, Nandaki;
- Lamperti, Costanza;
- McFarland, Robert;
- Ng, Yi Shiau;
- O'Callaghan, Mar;
- Pitceathly, Robert D. S.;
- Rahman, Shamima;
- Russel, Frans G. M.;
- Varhaug, Kristin N.;
- Schirris, Tom J. J.;
- Mancuso, Michelangelo
Publication type:
Article
Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 20, p. R245, doi. 10.1093/hmg/ddab156
By:
- Gomes, Tiago M Bernardino;
- Ng, Yi Shiau;
- Pickett, Sarah J;
- Turnbull, Doug M;
- Vincent, Amy E
Publication type:
Article
Adult presentation of a rare mitochondrial tRNA Val gene mutation—an expanding clinical phenotype.
Published in:
European Journal of Neurology, 2024, v. 31, n. 10, p. 1, doi. 10.1111/ene.16405
By:
- Joyce, Eimear;
- Ali, Mohib;
- Richard, Georgia;
- Kelly, Siobhan;
- Martin, Fiachra;
- Conlon, Peter J.;
- Whelehan, Anna;
- Ng, Yi Shiau;
- Lefter, Stela
Publication type:
Article
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Published in:
European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16275
By:
- Mancuso, Michelangelo;
- Papadopoulou, Maria T.;
- Ng, Yi Shiau;
- Ardissone, Anna;
- Bellusci, Marcello;
- Bertini, Enrico;
- Di Vito, Lidia;
- Evangelista, Teresinha;
- Fons, Carmen;
- Hikmat, Omar;
- Horvath, Rita;
- Klopstock, Thomas;
- Kornblum, Cornelia;
- Lamperti, Costanza;
- Licchetta, Laura;
- Molnar, Maria Judit;
- Varhaug, Kristin N.;
- O'Callaghan, Mar;
- Pressler, Ronit M.;
- Schiff, Manuel
Publication type:
Article
Delineating mechanisms underlying parvalbumin neuron impairment in different neurological and neurodegenerative disorders: the emerging role of mitochondrial dysfunction.
Published in:
Biochemical Society Transactions, 2024, v. 52, n. 2, p. 553, doi. 10.1042/BST20230191
By:
- Olkhova, Elizaveta A.;
- Smith, Laura A.;
- Dennis, Bethany H.;
- Yi Shiau Ng;
- LeBeau, Fiona E. N.;
- Gorman, Gráinne S.
Publication type:
Article
Endocrine Manifestations and New Developments in Mitochondrial Disease.
Published in:
Endocrine Reviews, 2022, v. 43, n. 3, p. 583, doi. 10.1210/endrev/bnab036
By:
- Ng, Yi Shiau;
- Lim, Albert Zishen;
- Panagiotou, Grigorios;
- Turnbull, Doug M;
- Walker, Mark
Publication type:
Article
Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.
Published in:
2018
By:
- Boal, Rachel L;
- Ng, Yi Shiau;
- Pickett, Sarah;
- Schaefer, Andrew M;
- Feeney, Catherine;
- Bright, Alex;
- Taylor, Robert W;
- Turnbull, Doug M;
- Gorman, Grainne S;
- Cheetham, Tim;
- McFarland, Robert;
- Pickett, Sarah J;
- Bright, Alexandra
Publication type:
journal article
A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.
Published in:
Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05238-7
By:
- Olkhova, Elizaveta A.;
- Bradshaw, Carla;
- Blain, Alasdair;
- Alvim, Debora;
- Turnbull, Doug M.;
- LeBeau, Fiona E. N.;
- Ng, Yi Shiau;
- Gorman, Gráinne S.;
- Lax, Nichola Z.
Publication type:
Article
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.
Published in:
European Heart Journal, 2016, v. 37, n. 32, p. 2552, doi. 10.1093/eurheartj/ehv306
By:
- Yi Shiau Ng;
- Grady, John P.;
- Lax, Nichola Z.;
- Bourke, John P.;
- Alston, Charlotte L.;
- Hardy, Steven A.;
- Falkous, Gavin;
- Schaefer, Andrew G.;
- Radunovic, Aleksandar;
- Mohiddin, Saidi A.;
- Ralph, Matilda;
- Alhakim, Ali;
- Taylor, Robert W.;
- McFarland, Robert;
- Turnbull, Douglass M.;
- Gorman, Gráinne S.
Publication type:
Article

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