Works matching AU Pitceathly, Robert D.S.

Results: 8

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

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures.

Published in:

Journal of Molecular Neuroscience, 2020, v. 70, n. 12, p. 1962, doi. 10.1007/s12031-020-01595-8

By:

Paramasivam, Arumugam;
Meena, Angamuthu K.;
Venkatapathi, Challa;
Pitceathly, Robert D.S.;
Thangaraj, Kumarasamy

Publication type:

Article

Cardiac manifestations of mitochondrial disorders: reply.

Published in:

2010

By:

Limongelli, Giuseppe;
Rahman, Shamima;
Pitceathly, Robert D.S.;
Hanna, Michael G.;
Elliott, Perry M.

Publication type:

Letter

Haploinsufficiency of progranulin causes mitochondrial dysfunction.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.070907

By:

Bautista, Javier S.;
Falabella, Micol;
Lu, Shanti;
Rohrer, Jonathan D.;
Plun‐Favreau, Helene;
Wray, Selina;
Taanman, Jan‐Willam;
Pitceathly, Robert D. S.;
Pitceathly, Robert D.S.

Publication type:

Article

Moving towards clinical trials for mitochondrial diseases.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 22, doi. 10.1002/jimd.12281

By:

Pitceathly, Robert D.S.;
Keshavan, Nandaki;
Rahman, Joyeeta;
Rahman, Shamima

Publication type:

Article

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.

Published in:

Expert Review of Molecular Diagnostics, 2023, v. 23, n. 9, p. 797, doi. 10.1080/14737159.2023.2241365

By:

Macken, William L.;
Falabella, Micol;
Pizzamiglio, Chiara;
Woodward, Cathy E.;
Scotchman, Elizabeth;
Chitty, Lyn S.;
Polke, James M.;
Bugiardini, Enrico;
Hanna, Michael G.;
Vandrovcova, Jana;
Chandler, Natalie;
Labrum, Robyn;
Pitceathly, Robert D.S.

Publication type:

Article