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Author/Creator Falkous, Gavin

4. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance. Issue 2 (14th November 2019)

Authors:
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, Grá...
Journal:
Clinical genetics
Issue:
Volume 97:Issue 2(2020)
Page Start:
276
Record Type:
Journal Article
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5. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. Issue 7 (July 2015)

Authors:
Lax, Nichola Z.; Alston, Charlotte L.; Schon, Katherine; Park, Soo-Mi; Krishnakumar, Deepa; He, Langping; Falkous, Gavin; Ogilvy-Stuart, Amanda; Lees, Christoph; King, Rosalind H.; Hargreaves, Iain P.; Brown, Garry K.; McFarland, Robert; Dean, Andrew F.; Taylor, Robert W.
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 74:Issue 7(2015:Jul.)
Page Start:
Record Type:
Journal Article
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6. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. Issue 7 (July 2015)

Authors:
Lax, Nichola Z.; Alston, Charlotte L.; Schon, Katherine; Park, Soo-Mi; Krishnakumar, Deepa; He, Langping; Falkous, Gavin; Ogilvy-Stuart, Amanda; Lees, Christoph; King, Rosalind H.; Hargreaves, Iain P.; Brown, Garry K.; McFarland, Robert; Dean, Andrew F.; Taylor, Robert W.
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 74:Issue 7(2015:Jul.)
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Record Type:
Journal Article
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7. Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy. (August 2016)

Authors:
Hardy, Steven A.; Blakely, Emma L.; Purvis, Andrew I.; Rocha, Mariana C.; Ahmed, Syeda; Falkous, Gavin; Poulton, Joanna; Rose, Michael R.; O'Mahony, Olivia; Bermingham, Niamh; Dougan, Charlotte F.; Ng, Yi Shiau; Horvath, Rita; Turnbull, Doug M.; Gorman, Grainne S.; Taylor, Robert W.
Journal:
Neurology
Issue:
Volume 2:Number 4(2016)
Page Start:
Record Type:
Journal Article
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8. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. Issue 12 (13th January 2022)

Authors:
Schober, Florian A; Tang, Jia Xin; Sergeant, Kate; Moedas, Marco F; Zierz, Charlotte M; Moore, David; Smith, Conrad; Lewis, David; Guha, Nishan; Hopton, Sila; Falkous, Gavin; Lam, Amanda; Pyle, Angela; Poulton, Joanna; Gorman, Gráinne S; Taylor, Robert W; Freyer, Christoph; Wredenberg, Anna
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 12(2022)
Page Start:
2049
Record Type:
Journal Article
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9. Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study. (1st May 2018)

Authors:
Sithamparanathan, Sasiharan; Rocha, Mariana C.; Parikh, Jehill D.; Rygiel, Karolina A.; Falkous, Gavin; Grady, John P.; Hollingsworth, Kieren G.; Trenell, Michael I.; Taylor, Robert W.; Turnbull, Doug M.; Gorman, Gráinne S.; Corris, Paul A.
Journal:
Pulmonary circulation
Issue:
Volume 8:Number 2(2018)
Page Start:
1
Record Type:
Journal Article
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10. Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study. (May 2018)

Authors:
Sithamparanathan, Sasiharan; Rocha, Mariana C.; Parikh, Jehill D.; Rygiel, Karolina A.; Falkous, Gavin; Grady, John P.; Hollingsworth, Kieren G.; Trenell, Michael I.; Taylor, Robert W.; Turnbull, Doug M.; Gorman, Gráinne S.; Corris, Paul A.
Journal:
Pulmonary circulation
Issue:
Volume 8:Number 2(2018)
Page Start:
Record Type:
Journal Article
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