Gavin Falkous

Affiliations

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.

Publications (15)

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

PLoS genetics

Avec: Mark T Handley , Kaalak Reddy , Jimi Wills , Elisabeth Rosser , Archith Kamath , Mihail Halachev , Gavin Falkous , Denise Williams , Phillip Cox , Alison Meynert , Eleanor S Raymond , Harris Morrison , Stephen Brown , Emma Allan , Irene Aligianis , Andrew P Jackson , Bernard H Ramsahoye , Alex von Kriegsheim , Robert W Taylor , Andrew J Finch , David R FitzPatrick

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.

Human molecular genetics

Avec: Florian A Schober , Jia Xin Tang , Kate Sergeant , Marco F Moedas , Charlotte M Zierz , David Moore , Conrad Smith , David Lewis , Nishan Guha , Sila Hopton , Gavin Falkous , Amanda Lam , Angela Pyle , Joanna Poulton , Gráinne S Gorman , Robert W Taylor , Christoph Freyer , Anna Wredenberg

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

Clinical genetics

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

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity.

Neuromuscular disorders : NMD

Avec: Karen Baty , Maria E Farrugia , Sila Hopton , Gavin Falkous , Andrew M Schaefer , William Stewart , Hugh J Willison , Mary M Reilly , Emma L Blakely , Robert W Taylor , Yi Shiau Ng

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA

Neuromuscular disorders : NMD

Avec: Pushpa Raj Joshi , Karen Baty , Sila Hopton , Isabell Cordts , Gavin Falkous , Benedikt Schoser , Emma L Blakely , Robert W Taylor , Marcus Deschauer

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.

Cell reports

Avec: Amy E Vincent , Kathryn White , Tracey Davey , Jonathan Philips , R Todd Ogden , Conor Lawless , Charlotte Warren , Matt G Hall , Yi Shiau Ng , Gavin Falkous , Thomas Holden , David Deehan , Robert W Taylor , Doug M Turnbull , Martin Picard

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.

Neuromuscular disorders : NMD

Avec: Albert Z Lim , Grace McMacken , Francesca Rastelli , Monika Oláhová , Karen Baty , Sila Hopton , Gavin Falkous , Ana Töpf , Hanns Lochmüller , Chiara Marini-Bettolo , Robert McFarland , Robert W Taylor

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Neuromuscular disorders : NMD

Avec: Debby M E I Hellebrekers , Emma L Blakely , Alexandra T M Hendrickx , Steven A Hardy , Sila Hopton , Gavin Falkous , Irenaeus F M de Coo , Hubert J M Smeets , Nadine M E van der Beek , Robert W Taylor

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.

Scientific reports

Avec: Elena Perli , Annalinda Pisano , Ruth I C Glasgow , Miriam Carbo , Steven A Hardy , Gavin Falkous , Langping He , Bruna Cerbelli , Maria Gemma Pignataro , Elisabetta Zacara , Federica Re , Paola Lilla Della Monica , Veronica Morea , Penelope E Bonnen , Robert W Taylor , Giulia d'Amati , Carla Giordano

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.

Mitochondrion

Avec: Albert Z Lim , Emma L Blakely , Karen Baty , Langping He , Sila Hopton , Gavin Falkous , Kenneth McWilliam , Alison Cozens , Robert McFarland , Robert W Taylor

A Novel Pathogenic Variant in

Journal of clinical medicine

Avec: Charlotte M Zierz , Karen Baty , Emma L Blakely , Sila Hopton , Gavin Falkous , Andrew M Schaefer , Marios Hadjivassiliou , Ptolemaios G Sarrigiannis , Yi Shiau Ng , Robert W Taylor

Novel

Frontiers in genetics

Avec: Yi Shiau Ng , Kyle Thompson , Daniela Loher , Sila Hopton , Gavin Falkous , Steven A Hardy , Andrew M Schaefer , Sandip Shaunak , Mark E Roberts , James B Lilleker , Robert W Taylor

Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy.

Trials

Avec: Auteur inconnu , Alaa Abouhajar , Lisa Alcock , Theophile Bigirumurame , Penny Bradley , Laura Brown , Ian Campbell , Silvia Del Din , Julie Faitg , Gavin Falkous , Gráinne S Gorman , Rachel Lakey , Robert McFarland , Jane Newman , Lynn Rochester , Vicky Ryan , Hesther Smith , Alison Steel , Renae J Stefanetti , Huizhong Su , Robert W Taylor , Naomi J P Thomas , Helen Tuppen , Amy E Vincent , Charlotte Warren , Gillian Watson

Changing faces of mitochondrial disease: autosomal recessive

BMJ neurology open

Avec: Menatalla Elwan , Andrew M Schaefer , Kate Craig , Sila Hopton , Gavin Falkous , Emma L Blakely , Robert W Taylor , Naomi Warren

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.

EMBO molecular medicine

Avec: Direnis Erdinc , Alejandro Rodríguez-Luis , Mahmoud R Fassad , Sarah Mackenzie , Christopher M Watson , Sebastian Valenzuela , Xie Xie , Katja E Menger , Kate Sergeant , Kate Craig , Sila Hopton , Gavin Falkous , Auteur inconnu , Joanna Poulton , Hector Garcia-Moreno , Paola Giunti , Carlos A de Moura Aschoff , Jonas A Morales Saute , Amelia J Kirby , Camilo Toro , Lynne Wolfe , Danica Novacic , Lior Greenbaum , Aviva Eliyahu , Ortal Barel , Yair Anikster , Robert McFarland , Gráinne S Gorman , Andrew M Schaefer , Claes M Gustafsson , Robert W Taylor , Maria Falkenberg , Thomas J Nicholls

Réseau de co-auteurs

Robert W Taylor 15 collaborations

Sila Hopton 10 collaborations

Emma L Blakely 7 collaborations

Andrew M Schaefer 6 collaborations

Karen Baty 5 collaborations

Gráinne S Gorman 4 collaborations

Yi Shiau Ng 4 collaborations

Robert McFarland 4 collaborations

Langping He 3 collaborations

Steven A Hardy 3 collaborations

Kate Sergeant 2 collaborations

Charlotte M Zierz 2 collaborations

Joanna Poulton 2 collaborations

Kyle Thompson 2 collaborations

Amy E Vincent 2 collaborations

Charlotte Warren 2 collaborations

Albert Z Lim 2 collaborations

None None 2 collaborations

Kate Craig 2 collaborations

Mark T Handley 1 collaboration

Kaalak Reddy 1 collaboration

Jimi Wills 1 collaboration

Elisabeth Rosser 1 collaboration

Archith Kamath 1 collaboration

Mihail Halachev 1 collaboration

Denise Williams 1 collaboration

Phillip Cox 1 collaboration

Alison Meynert 1 collaboration

Eleanor S Raymond 1 collaboration

Harris Morrison 1 collaboration

Stephen Brown 1 collaboration

Emma Allan 1 collaboration

Irene Aligianis 1 collaboration

Andrew P Jackson 1 collaboration

Bernard H Ramsahoye 1 collaboration

Alex von Kriegsheim 1 collaboration

Andrew J Finch 1 collaboration

David R FitzPatrick 1 collaboration

Florian A Schober 1 collaboration

Jia Xin Tang 1 collaboration

Marco F Moedas 1 collaboration

David Moore 1 collaboration

Conrad Smith 1 collaboration

David Lewis 1 collaboration

Nishan Guha 1 collaboration

Amanda Lam 1 collaboration

Angela Pyle 1 collaboration

Christoph Freyer 1 collaboration

Anna Wredenberg 1 collaboration

Ewen W Sommerville 1 collaboration

Ilaria Dalla Rosa 1 collaboration

Masha M Rosenberg 1 collaboration

Francesco Bruni 1 collaboration

Mariana Rocha 1 collaboration

Patrick Yu-Wai-Man 1 collaboration

Patrick F Chinnery 1 collaboration

Lizbeth Hedstrom 1 collaboration

Antonella Spinazzola 1 collaboration

Maria E Farrugia 1 collaboration

William Stewart 1 collaboration

Hugh J Willison 1 collaboration

Mary M Reilly 1 collaboration

Pushpa Raj Joshi 1 collaboration

Isabell Cordts 1 collaboration

Benedikt Schoser 1 collaboration

Marcus Deschauer 1 collaboration

Kathryn White 1 collaboration

Tracey Davey 1 collaboration

Jonathan Philips 1 collaboration

R Todd Ogden 1 collaboration

Conor Lawless 1 collaboration

Matt G Hall 1 collaboration

Thomas Holden 1 collaboration

David Deehan 1 collaboration

Doug M Turnbull 1 collaboration

Martin Picard 1 collaboration

Grace McMacken 1 collaboration

Francesca Rastelli 1 collaboration

Monika Oláhová 1 collaboration

Ana Töpf 1 collaboration

Hanns Lochmüller 1 collaboration

Chiara Marini-Bettolo 1 collaboration

Debby M E I Hellebrekers 1 collaboration

Alexandra T M Hendrickx 1 collaboration

Irenaeus F M de Coo 1 collaboration

Hubert J M Smeets 1 collaboration

Nadine M E van der Beek 1 collaboration

Elena Perli 1 collaboration

Annalinda Pisano 1 collaboration

Ruth I C Glasgow 1 collaboration

Miriam Carbo 1 collaboration

Bruna Cerbelli 1 collaboration

Maria Gemma Pignataro 1 collaboration

Elisabetta Zacara 1 collaboration

Federica Re 1 collaboration

Paola Lilla Della Monica 1 collaboration

Veronica Morea 1 collaboration

Penelope E Bonnen 1 collaboration

Giulia d'Amati 1 collaboration

Carla Giordano 1 collaboration

Kenneth McWilliam 1 collaboration

Alison Cozens 1 collaboration

Marios Hadjivassiliou 1 collaboration

Ptolemaios G Sarrigiannis 1 collaboration

Daniela Loher 1 collaboration

Sandip Shaunak 1 collaboration

Mark E Roberts 1 collaboration

James B Lilleker 1 collaboration

Alaa Abouhajar 1 collaboration

Lisa Alcock 1 collaboration

Theophile Bigirumurame 1 collaboration

Penny Bradley 1 collaboration

Laura Brown 1 collaboration

Ian Campbell 1 collaboration

Silvia Del Din 1 collaboration

Julie Faitg 1 collaboration

Rachel Lakey 1 collaboration

Jane Newman 1 collaboration

Lynn Rochester 1 collaboration

Vicky Ryan 1 collaboration

Hesther Smith 1 collaboration

Alison Steel 1 collaboration

Renae J Stefanetti 1 collaboration

Huizhong Su 1 collaboration

Naomi J P Thomas 1 collaboration

Helen Tuppen 1 collaboration

Gillian Watson 1 collaboration

Menatalla Elwan 1 collaboration

Naomi Warren 1 collaboration

Direnis Erdinc 1 collaboration

Alejandro Rodríguez-Luis 1 collaboration

Mahmoud R Fassad 1 collaboration

Sarah Mackenzie 1 collaboration

Christopher M Watson 1 collaboration

Sebastian Valenzuela 1 collaboration

Xie Xie 1 collaboration

Katja E Menger 1 collaboration

Hector Garcia-Moreno 1 collaboration

Paola Giunti 1 collaboration

Carlos A de Moura Aschoff 1 collaboration

Jonas A Morales Saute 1 collaboration

Amelia J Kirby 1 collaboration

Camilo Toro 1 collaboration

Lynne Wolfe 1 collaboration

Danica Novacic 1 collaboration

Lior Greenbaum 1 collaboration

Aviva Eliyahu 1 collaboration

Ortal Barel 1 collaboration

Yair Anikster 1 collaboration

Claes M Gustafsson 1 collaboration

Maria Falkenberg 1 collaboration

Thomas J Nicholls 1 collaboration