Works matching AU Robert McFarland

Results: 123

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.

Published in:

2016

By:

McKiernan, Patrick;
Ball, Sarah;
Santra, Saikat;
Foster, Katherine;
Fratter, Carl;
Poulton, Joanna;
Craig, Kate;
McFarland, Robert;
Rahman, Shamima;
Hargreaves, Iain;
Gupte, Girish;
Sharif, Khalid;
Taylor, Robert W.

Publication type:

journal 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

Unilateral Horner's syndrome: an unusual childhood presentation.

Published in:

2010

By:

Sohal, Aman P. S.;
Dasarathi, Madhuri;
Gholkar, Anil;
McFarland, Robert

Publication type:

journal 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

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

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

Published in:

Clinical Science, 2015, v. 128, n. 12, p. 895, doi. 10.1042/CS20140705

By:

Gorman, Grainne S.;
Blakely, Emma L.;
Hue Tran Hornig Do;
Tuppen, Helen A. L.;
Greaves, Laura C.;
Langping He;
Baker, Angela;
Falkous, Gavin;
Newman, Jane;
Trenell, Michael I.;
Lecky, Bryan;
Petty, Richard K.;
Turnbull, Doug M.;
McFarland, Robert;
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

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

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.

Published in:

Nucleic Acids Research, 2008, v. 36, n. 9, p. 3065, doi. 10.1093/nar/gkn147

By:

Rorbach, Joanna;
Yusoff, Abdul Aziz;
Tuppen, Helen;
Abg-Kamaludin, Dyg P.;
Chrzanowska-Lightowlers, Zofia M.A.;
Taylor, Robert W.;
Turnbull, Douglass M.;
McFarland, Robert;
Lightowlers, Robert N.

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

Migration as Mediation: Neue Freie Presse American Correspondent Ann Tizia Leitich and Stefan Zweig's "Die Monotonisierung der Welt".

Published in:

Seminar -- A Journal of Germanic Studies, 2006, v. 42, n. 3, p. 242, doi. 10.1353/smr.2006.0038

By:

McFarland, Robert

Publication type:

Article

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 935, doi. 10.1038/ejhg.2014.214

By:

Oláhová, Monika;
Haack, Tobias B;
Alston, Charlotte L;
Houghton, Jessica AC;
He, Langping;
Morris, Andrew AM;
Brown, Garry K;
McFarland, Robert;
Chrzanowska-Lightowlers, Zofia MA;
Lightowlers, Robert N;
Prokisch, Holger;
Taylor, Robert W

Publication type:

Article

A national perspective on prenatal testing for mitochondrial disease.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1255, doi. 10.1038/ejhg.2014.35

By:

Nesbitt, Victoria;
Alston, Charlotte L;
Blakely, Emma L;
Fratter, Carl;
Feeney, Catherine L;
Poulton, Joanna;
Brown, Garry K;
Turnbull, Doug M;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 897, doi. 10.1038/ejhg.2012.44

By:

Tuppen, Helen AL;
Naess, Karin;
Kennaway, Nancy G;
Al-Dosary, Mazhor;
Lesko, Nicole;
Yarham, John W;
Bruhn, Helene;
Wibom, Rolf;
Nennesmo, Inger;
Weleber, Richard G;
Blakely, Emma L;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 910, doi. 10.1038/ejhg.2012.123

By:

Tuppen, Helen AL;
Naess, Karin;
Kennaway, Nancy G;
Al-Dosary, Mazhor;
Lesko, Nicole;
Yarham, John W;
Bruhn, Helene;
Wibom, Rolf;
Nennesmo, Inger;
Weleber, Richard G;
Blakely, Emma L;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

Maternally inherited mitochondrial DNA disease in consanguineous families.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1226, doi. 10.1038/ejhg.2011.124

By:

Alston, Charlotte L;
He, Langping;
Morris, Andrew A;
Hughes, Imelda;
Goede, Christian de;
Turnbull, Douglass M;
McFarland, Robert;
Taylor, Robert W

Publication type:

Article

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 769, doi. 10.1038/ejhg.2011.18

By:

Swalwell, Helen;
Kirby, Denise M.;
Blakely, Emma L.;
Mitchell, Anna;
Salemi, Renato;
Sugiana, Canny;
Compton, Alison G.;
Tucker, Elena J;
Ke, Bi-Xia;
Lamont, Phillipa J.;
Turnbull, Douglass M;
McFarland, Robert;
Taylor, Robert W.;
Thorburn, David R.

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

The molecular pathology of pathogenic mitochondrial tRNA variants.

Published in:

FEBS Letters, 2021, v. 595, n. 8, p. 1003, doi. 10.1002/1873-3468.14049

By:

Richter, Uwe;
McFarland, Robert;
Taylor, Robert W.;
Pickett, Sarah J.

Publication type:

Article

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03014-8

By:

Bisschoff, Michelle;
Smuts, Izelle;
Dercksen, Marli;
Schoonen, Maryke;
Vorster, Barend C.;
van der Watt, George;
Spencer, Careni;
Naidu, Kireshnee;
Henning, Franclo;
Meldau, Surita;
McFarland, Robert;
Taylor, Robert W.;
Patel, Krutik;
Fassad, Mahmoud R.;
Vandrovcova, Jana;
Wanders, Ronald J. A.;
van der Westhuizen, Francois H.

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

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA.

Published in:

PLoS Genetics, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pgen.1004424

By:

Yarham, John W.;
Lamichhane, Tek N.;
Pyle, Angela;
Mattijssen, Sandy;
Baruffini, Enrico;
Bruni, Francesco;
Donnini, Claudia;
Vassilev, Alex;
He, Langping;
Blakely, Emma L.;
Griffin, Helen;
Santibanez-Koref, Mauro;
Bindoff, Laurence A.;
Ferrero, Ileana;
Chinnery, Patrick F.;
McFarland, Robert;
Maraia, Richard J.;
Taylor, Robert W.

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

The Effect of tRNA [Ser]Sec Isopentenylation on Selenoprotein Expression.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 21, p. 11454, doi. 10.3390/ijms222111454

By:

Fradejas-Villar, Noelia;
Bohleber, Simon;
Zhao, Wenchao;
Reuter, Uschi;
Kotter, Annika;
Helm, Mark;
Knoll, Rainer;
McFarland, Robert;
Taylor, Robert W.;
Mo, Yufeng;
Miyauchi, Kenjyo;
Sakaguchi, Yuriko;
Suzuki, Tsutomu;
Schweizer, Ulrich

Publication type:

Article

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences.

Published in:

Journal of Neurology, 2014, v. 261, n. 1, p. 73, doi. 10.1007/s00415-013-7129-2

By:

Galna, Brook;
Newman, Jane;
Jakovljevic, Djordje;
Bates, Matthew;
Schaefer, Andrew;
McFarland, Robert;
Turnbull, Douglass;
Trenell, Michael;
Gorman, Gráinne;
Rochester, Lynn

Publication type:

Article

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation.

Published in:

Journal of Neurology, 2007, v. 254, n. 9, p. 1283, doi. 10.1007/s00415-006-0490-7

By:

Blakely, Emma L.;
Swalwell, Helen;
Petty, Richard K. H.;
McFarland, Robert;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.

Published in:

Advanced Genetics, 2022, v. 3, n. 1, p. 1, doi. 10.1002/ggn2.202100047

By:

Karaa, Amel;
MacMullen, Laura E.;
Campbell, John C.;
Christodoulou, John;
Cohen, Bruce H.;
Klopstock, Thomas;
Koga, Yasutoshi;
Lamperti, Costanza;
van Maanen, Rob;
McFarland, Robert;
Parikh, Sumit;
Rahman, Shamima;
Scaglia, Fernando;
Sherman, Alexander V.;
Yeske, Philip;
Falk, Marni J.

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

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

Published in:

Annals of Neurology, 2004, v. 55, n. 1, p. 58

By:

Robert McFarland;
Denise M. Kirby;
Kerry J. Fowler;
Akira Ohtake;
Michael T. Ryan;
David J. Amor;
Janice M. Fletcher;
Joanne W. Dixon;
Felicity A. Collins;
Douglass M. Turnbull;
Robert W. Taylor

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

Abelian difference sets with multiplier minus one.

Published in:

Archiv der Mathematik, 1990, v. 54, n. 6, p. 610, doi. 10.1007/BF01188691

By:

McFarland, Robert;
Ma, Siu

Publication type:

Article

On quasiregular collineation groups.

Published in:

Archiv der Mathematik, 1975, v. 26, n. 1, p. 327, doi. 10.1007/BF01229747

By:

Ganley, Michael;
McFarland, Robert

Publication type:

Article

The Burning Tigris: The Armenian Genocide and America's Response.

Published in:

2012

By:

McFarland, Robert B.

Publication type:

Book Review

The Burning Tigris: The Armenian Genocide and America's Response.

Published in:

2009

By:

McFarland, Robert B.

Publication type:

Book Review

The Great Deception: Can the European Union Survive?

Published in:

2008

By:

McFarland, Robert B.

Publication type:

Book Review

Provoking War: An American Repetition Compulsion.

Published in:

Journal of Psychohistory, 2007, v. 35, n. 2, p. 176

By:

McFarland, Robert B.

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

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I.

Published in:

EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.202012619

By:

Alahmad, Ahmad;
Nasca, Alessia;
Heidler, Juliana;
Thompson, Kyle;
Oláhová, Monika;
Legati, Andrea;
Lamantea, Eleonora;
Meisterknecht, Jana;
Spagnolo, Manuela;
He, Langping;
Alameer, Seham;
Hakami, Fahad;
Almehdar, Abeer;
Ardissone, Anna;
Alston, Charlotte L;
McFarland, Robert;
Wittig, Ilka;
Ghezzi, Daniele;
Taylor, Robert W

Publication type:

Article

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

Published in:

EMBO Molecular Medicine, 2018, v. 10, n. 11, p. N.PAG, doi. 10.15252/emmm.201809060

By:

Thompson, Kyle;
Mai, Nicole;
Oláhová, Monika;
Scialó, Filippo;
Formosa, Luke E;
Stroud, David A;
Garrett, Madeleine;
Lax, Nichola Z;
Robertson, Fiona M;
Jou, Cristina;
Nascimento, Andres;
Ortez, Carlos;
Jimenez‐Mallebrera, Cecilia;
Hardy, Steven A;
He, Langping;
Brown, Garry K;
Marttinen, Paula;
McFarland, Robert;
Sanz, Alberto;
Battersby, Brendan J

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

SURF1 deficiency: a multi-centre natural history study.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-96

By:

Wedatilake, Yehani;
Brown, Ruth M.;
McFarland, Robert;
Yaplito-Lee, Joy;
Morris, Andrew A. M.;
Champion, Mike;
Jardine, Phillip E.;
Clarke, Antonia;
Thorburn, David R.;
Taylor, Robert W.;
Land, John M.;
Forrest, Katharine;
Dobbie, Angus;
Simmons, Louise;
Aasheim, Erlend T.;
Ketteridge, David;
Hanrahan, Donncha;
Chakrapani, Anupam;
Brown, Garry K.;
Rahman, Shamima

Publication type:

Article

SURF1 deficiency: a multi-centre natural history study.

Published in:

2013

By:

Wedatilake, Yehani;
Brown, Ruth M;
McFarland, Robert;
Yaplito-Lee, Joy;
Morris, Andrew A M;
Champion, Mike;
Jardine, Phillip E;
Clarke, Antonia;
Thorburn, David R;
Taylor, Robert W;
Land, John M;
Forrest, Katharine;
Dobbie, Angus;
Simmons, Louise;
Aasheim, Erlend T;
Ketteridge, David;
Hanrahan, Donncha;
Chakrapani, Anupam;
Brown, Garry K;
Rahman, Shamima

Publication type:

journal article

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 264, doi. 10.1002/jimd.12462

By:

Jiang, Huafang;
Alahmad, Ahmad;
Fu, Song;
Fu, Xiaoling;
Liu, Zhimei;
Han, Xiaodi;
Li, Lanlan;
Song, Tianyu;
Xu, Manting;
Liu, Shanshan;
Wang, Junling;
Albash, Buthaina;
Alaqeel, Ahmad;
Catalina, Vasilescu;
Prokisch, Holger;
Taylor, Robert W.;
McFarland, Robert;
Fang, Fang

Publication type:

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

Recent advances in understanding the molecular genetic basis of mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 36, doi. 10.1002/jimd.12104

By:

Thompson, Kyle;
Collier, Jack J.;
Glasgow, Ruth I. C.;
Robertson, Fiona M.;
Pyle, Angela;
Blakely, Emma L.;
Alston, Charlotte L.;
Oláhová, Monika;
McFarland, Robert;
Taylor, Robert W.

Publication type:

Article

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi‐based international workshop.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1267, doi. 10.1007/s10545-018-0229-5

By:

Koene, Saskia;
van Bon, Lara;
Bertini, Enrico;
Jimenez‐Moreno, Cecilia;
van der Giessen, Lianne;
de Groot, Imelda;
McFarland, Robert;
Parikh, Sumit;
Rahman, Shamima;
Wood, Michelle;
Zeman, Jiri;
Janssen, Anjo;
Smeitink, Jan

Publication type:

Article