Works by Robert McFarland

Results: 123

Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.

Published in:

Acta Neuropathologica, 2025, v. 149, n. 1, p. 1, doi. 10.1007/s00401-025-02891-6

By:

Smith, Laura A.;
Olkhova, Elizaveta A.;
Lax, Nichola Z.;
Ng, Yi Shiau;
Taylor, Robert W.;
Gorman, Grainne S.;
Erskine, Daniel;
McFarland, Robert

Publication type:

Article

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.

Published in:

Neurogenetics, 2017, v. 18, n. 4, p. 227, doi. 10.1007/s10048-017-0526-4

By:

Glasgow, Ruth;
Thompson, Kyle;
Barbosa, Inês;
He, Langping;
Alston, Charlotte;
Deshpande, Charu;
Simpson, Michael;
Morris, Andrew;
Neu, Axel;
Löbel, Ulrike;
Hall, Julie;
Prokisch, Holger;
Haack, Tobias;
Hempel, Maja;
McFarland, Robert;
Taylor, Robert

Publication type:

Article

Clinical, biochemical, and genetic features associated with <italic>VARS2</italic>‐related mitochondrial disease.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 563, doi. 10.1002/humu.23398

By:

Bruni, Francesco;
Di Meo, Ivano;
Bellacchio, Emanuele;
Webb, Bryn D.;
McFarland, Robert;
Chrzanowska‐Lightowlers, Zofia M. A.;
He, Langping;
Skorupa, Ewa;
Moroni, Isabella;
Ardissone, Anna;
Walczak, Anna;
Tyynismaa, Henna;
Isohanni, Pirjo;
Mandel, Hanna;
Prokisch, Holger;
Haack, Tobias;
Bonnen, Penelope E.;
Enrico, Bertini;
Pronicka, Ewa;
Ghezzi, Daniele

Publication type:

Article

Loss‐of‐function mutations in <italic>ISCA2</italic> disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 537, doi. 10.1002/humu.23396

By:

Alaimo, Joseph T.;
Besse, Arnaud;
Alston, Charlotte L.;
Pang, Ki;
Appadurai, Vivek;
Samanta, Monisha;
Smpokou, Patroula;
McFarland, Robert;
Taylor, Robert W.;
Bonnen, Penelope E.

Publication type:

Article

Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1260, doi. 10.1002/humu.22358

By:

Blakely, Emma L.;
Yarham, John W.;
Alston, Charlotte L.;
Craig, Kate;
Poulton, Joanna;
Brierley, Charlotte;
Park, Soo‐Mi;
Dean, Andrew;
Xuereb, John H.;
Anderson, Kirstie N.;
Compston, Alistair;
Allen, Chris;
Sharif, Saba;
Enevoldson, Peter;
Wilson, Martin;
Hammans, Simon R.;
Turnbull, Douglass M.;
McFarland, Robert;
Taylor, Robert W.

Publication type:

Article

Toward a mtDNA locus-specific mutation database using the LOVD platform.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1352, doi. 10.1002/humu.22118

By:

Elson, Joanna L.;
Sweeney, Mary G.;
Procaccio, Vincent;
Yarham, John W.;
Salas, Antonio;
Kong, Qing-Peng;
van der Westhuizen, Francois H.;
Pitceathly, Robert D.S.;
Thorburn, David R.;
Lott, Marie T.;
Wallace, Douglas C.;
Taylor, Robert W.;
McFarland, Robert

Publication type:

Article

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1319, doi. 10.1002/humu.21575

By:

Yarham, John W.;
Al-Dosary, Mazhor;
Blakely, Emma L.;
Alston, Charlotte L.;
Taylor, Robert W.;
Elson, Joanna L.;
McFarland, Robert

Publication type:

Article

Pathogenic mitochondrial tRNA mutations - Which mutations are inherited and why?

Published in:

Human Mutation, 2009, v. 30, n. 11, p. E984, doi. 10.1002/humu.21113

By:

Elson, Joanna L.;
Swalwell, Helen;
Blakely, Emma L.;
McFarland, Robert;
Taylor, Robert W.;
Turnbull, Doug M.

Publication type:

Article

Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 826, doi. 10.1002/acn3.736

By:

Moore, Heather L.;
Kelly, Thomas;
Bright, Alexandra;
Field, Robert H.;
Schaefer, Andrew M.;
Blain, Alasdair P.;
Taylor, Robert W.;
McFarland, Robert;
Turnbull, Doug M.;
Gorman, Gráinne S.

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

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

Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28.

Published in:

JAMA Neurology, 2015, v. 72, n. 1, p. 106, doi. 10.1001/jamaneurol.2014.1753

By:

Gorman, Gráinne S.;
Pfeffer, Gerald;
Griffin, Helen;
Blakely, Emma L.;
Kurzawa-Akanbi, Marzena;
Gabriel, Jessica;
Sitarz, Kamil;
Roberts, Mark;
Schoser, Benedikt;
Pyle, Angela;
Schaefer, Andrew M.;
McFarland, Robert;
Turnbull, Douglass M.;
Horvath, Rita;
Chinnery, Patrick F.;
Taylor, Robert W.

Publication type:

Article

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.

Published in:

Genome Biology, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13059-020-02138-5

By:

Lujan, Scott A.;
Longley, Matthew J.;
Humble, Margaret H.;
Lavender, Christopher A.;
Burkholder, Adam;
Blakely, Emma L.;
Alston, Charlotte L.;
Gorman, Grainne S.;
Turnbull, Doug M.;
McFarland, Robert;
Taylor, Robert W.;
Kunkel, Thomas A.;
Copeland, William C.

Publication type:

Article

Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 778, doi. 10.1038/sj.ejhg.5201216

By:

Mcdonnell, Martina T.;
Schaefer, Andrew M.;
Blakely, Emma L.;
McFarland, Robert;
Chinnery, Patrick F.;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.

Published in:

Brain Pathology, 2019, v. 29, n. 1, p. 97, doi. 10.1111/bpa.12640

By:

Hayhurst, Hannah;
Anagnostou, Maria‐Eleni;
Bogle, Helen J.;
Grady, John P.;
Taylor, Robert W.;
Bindoff, Laurence A.;
McFarland, Robert;
Turnbull, Doug M.;
Lax, Nichola Z.

Publication type:

Article

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

Published in:

Nature Genetics, 2002, v. 30, n. 2, p. 145, doi. 10.1038/ng819

By:

McFarland, Robert;
Clark, Kim M.;
Morris, Andrew A.M.;
Taylor, Robert W.;
Macphail, Sheila;
Lightowlers, Robert N.;
Turnbull, Douglass M.

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

Scientific and Ethical Issues in Mitochondrial Donation.

Published in:

New Bioethics, 2018, v. 24, n. 1, p. 57, doi. 10.1080/20502877.2018.1440725

By:

Craven, Lyndsey;
Murphy, Julie;
Turnbull, Doug M.;
Taylor, Robert W.;
Gorman, Grainne S.;
McFarland, Robert

Publication type:

Article

Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome.

Published in:

Neuropathology & Applied Neurobiology, 2022, v. 48, n. 6, p. 1, doi. 10.1111/nan.12833

By:

Smith, Laura A.;
Erskine, Daniel;
Blain, Alasdair;
Taylor, Robert W.;
McFarland, Robert;
Lax, Nichola Z.

Publication type:

Article

2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26829-0

By:

Pantic, Boris;
Ives, Daniel;
Mennuni, Mara;
Perez-Rodriguez, Diego;
Fernandez-Pelayo, Uxoa;
Lopez de Arbina, Amaia;
Muñoz-Oreja, Mikel;
Villar-Fernandez, Marina;
Dang, Thanh-mai Julie;
Vergani, Lodovica;
Johnston, Iain G.;
Pitceathly, Robert D. S.;
McFarland, Robert;
Hanna, Michael G.;
Taylor, Robert W.;
Holt, Ian J.;
Spinazzola, Antonella

Publication type:

Article

Sporotrichosis Revisited.

Published in:

Annals of Internal Medicine, 1966, v. 65, n. 2, p. 363, doi. 10.7326/0003-4819-65-2-363

By:

McFarland, Robert B.

Publication type:

Article

A SURVEY OF ONE HUNDRED SUSPECTED DRUG ADDICTS.

Published in:

Journal of Criminal Law, Criminology & Police Science, 1953, v. 44, n. 3, p. 308, doi. 10.2307/1139227

By:

McFarland, Robert L.;
Hall, William A.

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

The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study.

Published in:

Developmental Medicine & Child Neurology, 2010, v. 52, n. 5, p. 434, doi. 10.1111/j.1469-8749.2009.03463.x

By:

VERITY, CHRISTOPHER M.;
WINSTONE, ANNE MARIE;
STELLITANO, LESLEY;
KRISHNAKUMAR, DEEPA;
WILL, ROBERT;
MCFARLAND, ROBERT

Publication type:

Article

Mitochondrial diseases in childhood: a clinical approach to investigation and management.

Published in:

Developmental Medicine & Child Neurology, 2010, v. 52, n. 5, p. 422, doi. 10.1111/j.1469-8749.2009.03605.x

By:

KISLER, JILL EDITH;
WHITTAKER, ROGER GRAHAM;
MCFARLAND, ROBERT

Publication type:

Article

Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

Published in:

Brain Communications, 2024, v. 6, n. 6, p. 1, doi. 10.1093/braincomms/fcae342

By:

Frezatti, Rodrigo Siqueira Soares;
Tomaselli, Pedro José;
Record, Christopher J;
Wilson, Lindsay A;
Alves, Gustavo Maximiano;
Dominik, Natalia;
Efthymiou, Stephanie;
Patel, Krutik;
Vandrovcova, Jana;
Männikkö, Roope;
Pitceathly, Robert D S;
Sobreira, Claudia Ferreira da Rosa;
McFarland, Robert;
Taylor, Robert W;
Houlden, Henry;
Hanna, Michael G;
Reilly, Mary M;
Marques, Wilson

Publication type:

Article

Elective Divinities: Exile and Religious Conversion in Alfred Döblin's "Schicksalsreise" ("Destiny's Journey"), Karl Jakob Hirsch's "Heimkehr zu Gott" ("Return to God"), and Karl Stern's "The Pillar of Fire."

Published in:

2007

By:

McFarland, Robert B.

Publication type:

Literary Criticism

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

Published in:

2015

By:

Brito, Sara;
Thompson, Kyle;
Campistol, Jaume;
Colomer, Jaime;
Hardy, Steven A.;
He, Langping;
Fernández-Marmiesse, Ana;
Palacios, Lourdes;
Jou, Cristina;
Jiménez-Mallebrera, Cecilia;
Armstrong, Judith;
Montero, Raquel;
Artuch, Rafael;
Tischner, Christin;
Wenz, Tina;
McFarland, Robert;
Taylor, Robert W.

Publication type:

Correction Notice

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

Published in:

Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00102

By:

Brito, Sara;
Thompson, Kyle;
Campistol, Jaume;
Colomer, Jaime;
Hardy, Steven A.;
Langping He;
Fernández-Marmiesse, Ana;
Palacios, Lourdes;
Jou, Cristina;
Jiménez-Mallebrera, Cecilia;
Armstrong, Judith;
Montero, Raquel;
Artuch, Rafael;
Tischner, Christin;
Tina Wenz;
McFarland, Robert;
Taylor, Robert W.

Publication type:

Article

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 258, doi. 10.1093/hmg/ddy294

By:

Sommerville, Ewen W;
Zhou, Xiao-Long;
Oláhová, Monika;
Jenkins, Janda;
Euro, Liliya;
Konovalova, Svetlana;
Hilander, Taru;
Pyle, Angela;
He, Langping;
Habeebu, Sultan;
Saunders, Carol;
Kelsey, Anna;
Morris, Andrew A M;
McFarland, Robert;
Suomalainen, Anu;
Gorman, Gráinne S;
Wang, En-Duo;
Thiffault, Isabelle;
Tyynismaa, Henna;
Taylor, Robert W

Publication type:

Article

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4135, doi. 10.1093/hmg/ddy305

By:

Pacheu-Grau, David;
Callegari, Sylvie;
Emperador, Sonia;
Thompson, Kyle;
Aich, Abhishek;
Topol, Sarah E;
Spencer, Emily G;
McFarland, Robert;
Ruiz-Pesini, Eduardo;
Torkamani, Ali

Publication type:

Article

Mitochondrial tRNA mutations and disease.

Published in:

Wiley Interdisciplinary Reviews: RNA, 2010, v. 1, n. 2, p. 304, doi. 10.1002/wrna.27

By:

Yarham, John W.;
Elson, Joanna L.;
Blakely, Emma L.;
McFarland, Robert;
Taylor, Robert W.

Publication type:

Article

Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63881

By:

Hassaan, Hebatallah M;
Pyle, Angela;
Almenabawy, Nihal;
Robertson, Fiona M;
Elkhateeb, Nour;
Girgis, Marian Y;
Mahmoud, Iman Gamal El Din;
Amer, Fawzia;
Samaha, Mona;
Shaheen, Yara;
ElNaggar, Walaa;
Abdoh, Doaa;
Mehaney, Dina Ahmed;
Meguid, Iman Ehsan Abdel;
Taylor, Robert W;
McFarland, Robert;
Selim, Laila

Publication type:

Article

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

Prion-like α-synuclein pathology in the brain of infants with Krabbe disease.

Published in:

2022

By:

Hatton, Christopher;
Ghanem, Simona S.;
Koss, David J.;
Abdi, Ilham Y.;
Gibbons, Elizabeth;
Guerreiro, Rita;
Bras, Jose;
Consortium, International DLB Genetics;
Walker, Lauren;
Gelpi, Ellen;
Heywood, Wendy;
Outeiro, Tiago F.;
Attems, Johannes;
McFarland, Robert;
Forsyth, Rob;
El-Agnaf, Omar M.;
Erskine, Daniel;
International DLB Genetics Consortium

Publication type:

journal article

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Published in:

2016

By:

Kullar, Peter J;
Quail, Jenna;
Lindsey, Phillip;
Wilson, Janet A;
Horvath, Rita;
Yu-Wai-Man, Patrick;
Gorman, Grainne S;
Taylor, Robert W;
Ng, Yi;
McFarland, Robert;
Moore, Brian C J;
Chinnery, Patrick F

Publication type:

Letter

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

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 11, p. 3392, doi. 10.1093/brain/aws231

By:

Pitceathly, Robert D. S.;
Smith, Conrad;
Fratter, Carl;
Alston, Charlotte L.;
He, Langping;
Craig, Kate;
Blakely, Emma L.;
Evans, Julie C.;
Taylor, John;
Shabbir, Zarfishan;
Deschauer, Marcus;
Pohl, Ute;
Roberts, Mark E.;
Jackson, Matthew C.;
Halfpenny, Christopher A.;
Turnpenny, Peter D.;
Lunt, Peter W.;
Hanna, Michael G.;
Schaefer, Andrew M.;
McFarland, Robert

Publication type:

Article

Cerebral folate deficiency--mishaps and misdirection.

Published in:

2012

By:

McFarland R;
McFarland, Robert

Publication type:

journal article

Cerebral folate deficiency—mishaps and misdirection.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 7, p. 2002, doi. 10.1093/brain/aws166

By:

McFarland, Robert

Publication type:

Article

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 183, doi. 10.1093/brain/awq320

By:

Kemp, John P.;
Smith, Paul M.;
Pyle, Angela;
Neeve, Vivienne C. M.;
Tuppen, Helen A. L.;
Schara, Ulrike;
Talim, Beril;
Topaloglu, Haluk;
Holinski-Feder, Elke;
Abicht, Angela;
Czermin, Birgit;
Lochmüller, Hanns;
McFarland, Robert;
Chinnery, Patrick F.;
Chrzanowska-Lightowlers, Zofia M.A.;
Lightowlers, Robert N.;
Taylor, Robert W.;
Horvath, Rita

Publication type:

Article

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 10, p. 2952, doi. 10.1093/brain/awq232

By:

Tuppen, Helen A. L.;
Hogan, Vanessa E.;
Langping He;
Blakely, Emma L.;
Worgan, Lisa;
Al-Dosary, Mazhor;
Saretzki, Gabriele;
Alston, Charlotte L.;
Morris, Andrew A.;
Clarke, Michael;
Jones, Simon;
Devlin, Anita M.;
Mansour, Sahar;
Chrzanowska-Lightowlers, Zofia M. A.;
Thorburn, David R.;
McFarland, Robert;
Taylor, Robert W.

Publication type:

Article

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

Published in:

Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 329, doi. 10.1093/brain/awm272

By:

Gavin Hudson;
Patrizia Amati-Bonneau;
Emma L. Blakely;
Joanna D. Stewart;
Langping He;
Andrew M. Schaefer;
Philip G. Griffiths;
Kati Ahlqvist;
Anu Suomalainen;
Pascal Reynier;
Robert McFarland;
Douglass M. Turnbull;
Patrick F. Chinnery;
Robert W. Taylor

Publication type:

Article

Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene.

Published in:

Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. 1674, doi. 10.1093/brain/awl088

By:

Rita Horvath;
Gavin Hudson;
Gianfrancesco Ferrari;
Nancy Fütterer;
Sofia Ahola;
Eleonora Lamantea;
Holger Prokisch;
Hanns Lochmüller;
Robert McFarland;
V. Ramesh;
Thomas Klopstock;
Peter Freisinger;
Fabrizio Salvi;
Johannes A. Mayr;
Rene Santer;
Marketa Tesarova;
Jiri Zeman;
Bjarne Udd;
Robert W. Taylor;
Douglass Turnbull

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

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

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

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

Published in:

Annals of Neurology, 2015, v. 77, n. 5, p. 753, doi. 10.1002/ana.24362

By:

Gorman, Gráinne S.;
Schaefer, Andrew M.;
Ng, Yi;
Gomez, Nicholas;
Blakely, Emma L.;
Alston, Charlotte L.;
Feeney, Catherine;
Horvath, Rita;
Yu‐Wai‐Man, Patrick;
Chinnery, Patrick F.;
Taylor, Robert W.;
Turnbull, Douglass M.;
McFarland, Robert

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