Publications by authors named "Gavin Falkous"

26Publications

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

Neuromuscul Disord 2020 08 24;30(8):661-668. Epub 2020 Jun 24.

Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.

View Article and Find Full Text PDF
August 2020

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

Neuromuscul Disord 2020 04 5;30(4):346-350. Epub 2020 Mar 5.

Department of Neurology, Technical University Munich, School of Medicine, Munich, Germany.

View Article and Find Full Text PDF
April 2020

Novel Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.

Front Genet 2020 25;11:24. Epub 2020 Feb 25.

Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.

View Article and Find Full Text PDF
February 2020

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

Neuromuscul Disord 2019 09 21;29(9):693-697. Epub 2019 Aug 21.

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

View Article and Find Full Text PDF
September 2019

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

Mitochondrion 2019 07 22;47:18-23. Epub 2019 Apr 22.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

View Article and Find Full Text PDF
July 2019

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

Cell Rep 2019 01 15;26(4):996-1009.e4. Epub 2019 Jan 15.

Department of Psychiatry, Division of Behavioral Medicine, Columbia University Irving Medical Center, New York, NY, USA; Department of Neurology and Columbia Translational Neuroscience Initiative, H. Houston Merritt Center, Columbia University Irving Medical Center, New York, NY, USA; Columbia University Aging Center, Columbia University, New York, NY, USA. Electronic address:

View Article and Find Full Text PDF
January 2019

De novo variant is associated with decreased mitochondrial respiratory chain activities.

Neurol Genet 2017 Oct 22;3(5):e187. Epub 2017 Sep 22.

Wellcome Centre for Mitochondrial Research (E.W.S., C.L.A., L.H., G.F., R.M., R.W.T.), Institute of Neuroscience, Newcastle University, United Kingdom; Department of Molecular and Human Genetics (E.W.S.), Baylor College of Medicine, Houston, TX; Wellcome Centre for Mitochondrial Research (A.P.), Institute of Genetic Medicine, Newcastle University; Armistead Child Development Centre (K.N.), Kings Cross Hospital, Dundee, Scotland; Department of Clinical Neurosciences (P.F.C.), School of Clinical Medicine, University of Cambridge; and MRC Mitochondrial Biology Unit (P.F.C.), University of Cambridge, United Kingdom.

View Article and Find Full Text PDF
October 2017

Camptocormia and shuffling gait due to a novel mutation: Diagnostic pitfalls.

Neurol Genet 2017 Jun 5;3(3):e147. Epub 2017 Apr 5.

Department of Neurology (J.R., C.K.), Department of Epileptology (W.S.K.), Life and Brain Centre (W.S.K.), and Centre for Rare Diseases Bonn (ZSEB) (C.K.), University Hospital of Bonn, Germany; Department of Neurology (D.L.), University of Halle/S., Germany; and Wellcome Trust Centre for Mitochondrial Research (D.L., S.A.H., G.F., C.V.Y.K., R.L.J., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

View Article and Find Full Text PDF
June 2017

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

Neurol Genet 2016 Aug 23;2(4):e82. Epub 2016 Jun 23.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience (S.A.H., E.L.B., A.I.P., M.C.R., S.A., G.F., Y.S.N., D.M.T., G.S.G., R.W.T.), The Medical School, Institute of Genetic Medicine (R.H.), Newcastle University; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; Department of Neurology (M.R.R.), King's College Hospital NHS Foundation Trust, London; Departments of Neurology and Neuropathology (O.O., N.B.), Cork University Hospital, Ireland; and The Walton Centre for Neurology and Neurosurgery (C.F.D.), Liverpool, UK.

View Article and Find Full Text PDF
August 2016

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

J Neuropathol Exp Neurol 2015 Jul;74(7):688-703

From the Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK (NZL, CLA, LH, GF, RM, RWT); East Anglian Medical Genetics Service, Cambridge University Hospital NHS foundations Trust, Cambridge Biomedical Campus, Cambridge, UK (KS, SP); Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge UK (DK); Neonatal Unit, The Rosie Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK (AO); The Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Du Cane Road, London, UK (CL); Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK (RHK); Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK (IPH); Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford, UK (GKB); and Department of Histopathology, Cambridge University Hospital NHS foundations Trust, Cambridge, UK (AFD).

View Article and Find Full Text PDF
July 2015

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.

Neuromuscul Disord 2014 Jun 1;24(6):533-6. Epub 2014 Apr 1.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne NE2 2HH, UK. Electronic address:

View Article and Find Full Text PDF
June 2014

Disease progression in patients with single, large-scale mitochondrial DNA deletions.

Brain 2014 Feb 25;137(Pt 2):323-34. Epub 2013 Nov 25.

1 Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

View Article and Find Full Text PDF
February 2014