Works by Schaefer, Andrew M.

Results: 35

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

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 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

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

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

Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation.

Published in:

2015

By:

Martikainen, Mika H;
Gorman, Grainne S;
Goldsmith, Paul;
Burn, David J;
Turnbull, Doug M;
Schaefer, Andrew M

Publication type:

Case Study

Adult-onset myoclonus ataxia associated with the mitochondrial m.8993 T> C ' NARP' mutation.

Published in:

Movement Disorders, 2015, v. 30, n. 10, p. 1432, doi. 10.1002/mds.26358

By:

Martikainen, Mika H.;
Gorman, Grainne S.;
Goldsmith, Paul;
Burn, David J.;
Turnbull, Doug M.;
Schaefer, Andrew M.

Publication type:

Article

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy.

Published in:

Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12846

By:

Folland, Chiara;
Johnsen, Russell;
Botero Gomez, Adriana;
Trajanoski, Daniel;
Davis, Mark R.;
Moore, Ursula;
Straub, Volker;
Barresi, Rita;
Guglieri, Michela;
Hayhurst, Hannah;
Schaefer, Andrew M.;
Laing, Nigel G.;
Lamont, Philipa J.;
Ravenscroft, Gianina

Publication type:

Article

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 276, doi. 10.1111/cge.13652

By:

Sommerville, Ewen W.;
Dalla Rosa, Ilaria;
Rosenberg, Masha M.;
Bruni, Francesco;
Thompson, Kyle;
Rocha, Mariana;
Blakely, Emma L.;
He, Langping;
Falkous, Gavin;
Schaefer, Andrew M.;
Yu‐Wai‐Man, Patrick;
Chinnery, Patrick F.;
Hedstrom, Lizbeth;
Spinazzola, Antonella;
Taylor, Robert W.;
Gorman, Gráinne S.

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

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

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

Published in:

Brain: A Journal of Neurology, 2008, v. 131, n. 11, p. 2832, doi. 10.1093/brain/awn252

By:

Julie L. Murphy;
Emma L. Blakely;
Andrew M. Schaefer;
Langping He;
Phil Wyrick;
Ronald G. Haller;
Robert W. Taylor;
Douglass M. Turnbull;
Tanja Taivassalo

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

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions.

Published in:

Brain: A Journal of Neurology, 2006, v. 129, n. 12, p. 3391, doi. 10.1093/brain/awl282

By:

Taivassalo, Tanja;
Gardner, Julie L.;
Taylor, Robert W.;
Schaefer, Andrew M.;
Newman, Jane;
Barron, Martin J.;
Haller, Ronald G.;
Turnbull, Douglass M.

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

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

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.

Published in:

Kidney International, 2015, v. 87, n. 3, p. 610, doi. 10.1038/ki.2014.297

By:

Hall, Andrew M;
Vilasi, Annalisa;
Garcia-Perez, Isabel;
Lapsley, Marta;
Alston, Charlotte L;
Pitceathly, Robert D S;
McFarland, Robert;
Schaefer, Andrew M;
Turnbull, Doug M;
Beaumont, Nick J;
Hsuan, Justin J;
Cutillas, Pedro R;
Lindon, John C;
Holmes, Elaine;
Unwin, Robert J;
Taylor, Robert W;
Gorman, Grainne S;
Rahman, Shamima;
Hanna, Michael G

Publication type:

Article

Reply.

Published in:

Annals of Neurology, 2008, v. 64, n. 4, p. 471, doi. 10.1002/ana.21512

By:

Schaefer, Andrew M.;
Whittaker, Roger;
McFarland, Robert;
Chinnery, Patrick F.;
Taylor, Robert W.;
Turnbull, Douglass M.

Publication type:

Article

Prevalence of mitochondrial DNA disease in adults.

Published in:

Annals of Neurology, 2008, v. 63, n. 1, p. 35, doi. 10.1002/ana.21217

By:

Schaefer, Andrew M.;
McFarland, Robert;
Blakely, Emma L.;
He, Langping;
Whittaker, Roger G.;
Taylor, Robert W.;
Chinnery, Patrick F.;
Turnbull, Douglass M.

Publication type:

Article

Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation.

Published in:

Annals of Neurology, 2004, v. 55, n. 4, p. 478

By:

Robert McFarland;
Andrew M. Schaefer;
Julie L. Gardner;
Stephen Lynn;
Christine M. Hayes;
Martin J. Barron;
Mark Walker;
Patrick F. Chinnery;
Robert W. Taylor;
Douglass M. Turnbull

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

Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?

Published in:

2007

By:

Whittaker RG;
Schaefer AM;
McFarland R;
Taylor RW;
Walker M;
Turnbull DM;
Whittaker, Roger G;
Schaefer, Andrew M;
McFarland, Robert;
Taylor, Robert W;
Walker, Mark;
Turnbull, Douglass M

Publication type:

journal article

Diabetes and Deafness.

Published in:

Diabetes Care, 2007, v. 30, n. 9, p. 2238, doi. 10.2337/dc07-0466

By:

Whittaker, Roger G.;
Schaefer, Andrew M.;
McFarland, Robert;
Taylor, Robert W.;
Walker, Mark;
Turnbull, Douglass M.

Publication type:

Article

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.

Published in:

FEBS Journal, 2005, v. 272, n. 14, p. 3583, doi. 10.1111/j.1742-4658.2005.04779.x

By:

Blakely, Emma L.;
Mitchell, Anna L.;
Fisher, Nicholas;
Meunier, Brigitte;
Nijtmans, Leo G.;
Schaefer, Andrew M.;
Jackson, Margaret J.;
Turnbull, Douglass M.;
Taylor, Robert W.

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

A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course.

Published in:

2025

By:

Bhattacharjee, Shakya;
Lenassi, Eva;
Taylor, Robert W.;
Schaefer, Andrew M.;
Ealing, John;
Kobylecki, Christopher

Publication type:

Letter

Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia?

Published in:

Journal of Neurology, 2007, v. 254, n. 8, p. 1138, doi. 10.1007/s00415-006-0484-5

By:

Whittaker, Roger G.;
Schaefer, Andrew M.;
Taylor, Robert W.;
Turnbull, Douglass M.

Publication type:

Article

Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls.

Published in:

2020

By:

Erskine, Daniel;
Reeve, Amy K.;
Polvikoski, Tuomo;
Schaefer, Andrew M.;
Taylor, Robert W.;
Lax, Nichola Z.;
El-Agnaf, Omar;
Attems, Johannes;
Gorman, Gráinne S.;
Turnbull, Doug M.;
Ng, Yi Shau

Publication type:

Letter

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