Publications by authors named "Carl Fratter"

41Publications

EMQN best practice guidelines for genetic testing in dystrophinopathies.

Eur J Hum Genet 2020 Sep 18;28(9):1141-1159. Epub 2020 May 18.

Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

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http://dx.doi.org/10.1038/s41431-020-0643-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608854PMC
September 2020

Novel mutation in the RNASEH1 gene in a chronic progressive external ophthalmoplegia patient.

Can J Ophthalmol 2018 10 17;53(5):e203-e205. Epub 2018 Feb 17.

Northampton General Hospital NHS Trust, Northampton, United Kingdom.

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http://dx.doi.org/10.1016/j.jcjo.2018.01.005DOI Listing
October 2018

The Novel Activity of Carbamazepine as an Activation Modulator Extends from Na1.7 Mutations to the Na1.8-S242T Mutant Channel from a Patient with Painful Diabetic Neuropathy.

Mol Pharmacol 2018 11 22;94(5):1256-1269. Epub 2018 Aug 22.

Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, Connecticut (C.H., M.E., F.B.D.-H., L.M., S.G.W., S.D.D.-H.); Center for restoration of Nervous System Function, Veterans Affairs Medical Center, West Haven, Connecticut (C.H., M.E., F.B.D.-H., L.M., S.G.W., S.D.D.-H.); Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom (A.C.T., I.B., D.L.B.); Brain Function Research Group, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa (A.C.T.); and Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom (C.F.)

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http://dx.doi.org/10.1124/mol.118.113076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501587PMC
November 2018

De novo mutation associated with mitochondrial epilepsy syndrome with fever sensitivity.

Neurol Genet 2018 Aug 2;4(4):e258. Epub 2018 Aug 2.

Harvard Chan School of Public Health (E.L.), Harvard University, Boston, MA; Department of Paediatrics (A.W.), University Hospital Southampton NHS Foundation Trust; Nuffield Department Women's + Reproductive Health (E.D., J.C., J.P.), University of Oxford, The Women's Centre; Department of Neuropathology (M.H.), Oxford University Hospitals NHS Foundation Trust; Oxford Children's Hospital (G.A., S.J.), Oxford University Hospitals NHS Foundation Trust; Wessex Clinical Genetics Service (V.H.), University Hospital Southampton NHS Foundation Trust; and Department of Medical and Molecular Genetics (C.F., I.A.B., M.S.), King's College London School of Basic and Medical Biosciences, London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089689PMC
August 2018

Clinicopathologic and molecular spectrum of -related mitochondrial disease.

Neurol Genet 2017 Jun 2;3(3):e149. Epub 2017 May 2.

MRC Centre for Neuromuscular Diseases (E.B., O.V.P., A.M., A.H., J.L.H., H.H., M.G.H., R.D.S.P.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (A.M., A.M.P., J.L.H., H.H., M.G.H.), Division of Neuropathology (J.L.H.), Department of Clinical Neuroscience (J.-W.T., A.S., I.J.H.), UCL Institute of Neurology; Neurometabolic Unit (I.H.), Neurogenetics Unit (C.E.W., M.G.S.), Department of Neuro-ophthalmology (G.T.P.), National Hospital for Neurology and Neurosurgery, London; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; MRC-Mitochondrial Biology Unit (M.Z.), Cambridge, UK; Unit of Molecular Neurogenetics (D.G.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Oxford Medical Genetics Laboratories (J.T., C.S., C.F.), Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, UK; Department of Neurology (M.A.K.), Nizam's Institute of Medical Sciences; CSIR-Centre for Cellular and Molecular Biology (A.P., K.T.), Hyderabad, Telangana, India; MRC Mill Hill Laboratory (I.J.H.), London, UK; Biodonostia Research Institute (I.J.H.), San Sebastián, Spain; and Department of Basic and Clinical Neuroscience (R.D.S.P.), Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413961PMC
June 2017

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Neuromuscul Disord 2016 10 17;26(10):702-705. Epub 2016 Aug 17.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066368PMC
October 2016

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

J Pediatr Gastroenterol Nutr 2016 12;63(6):592-597

*Liver Unit, Birmingham Children's Hospital †University of Birmingham ‡Department of Clinical IMD §Department of Radiology, Birmingham Children's Hospital, Birmingham ||Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust ¶Nuffield Department of Obstetrics and Gynaecology, University of Oxford #Wellcome Trust Centre for Mitochondrial Research and Highly Specialised Rare Mitochondrial Disease Service, Newcastle University **Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1097/MPG.0000000000001345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113754PMC
December 2016

The frequency of the m.1555A>G () variant in UK patients with suspected mitochondrial deafness.

Hearing Balance Commun 2016;14(2):101-102. Epub 2016 May 20.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.3109/21695717.2016.1151124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886845PMC
May 2016

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

Neurology 2016 05 22;86(20):1921-3. Epub 2016 Apr 22.

From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873683PMC
May 2016

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

J Inherit Metab Dis 2015 May 29;38(3):445-57. Epub 2014 Oct 29.

Genetic Medicine, Central Manchester University Hospitals NHS Foundation trust, St Mary's Hospital, 6th Floor, Oxford Road, Manchester, M 13 9WL, UK.

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http://dx.doi.org/10.1007/s10545-014-9778-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432108PMC
May 2015

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Brain 2014 Dec 3;137(Pt 12):3200-12. Epub 2014 Oct 3.

1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1093/brain/awu279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240292PMC
December 2014

A national perspective on prenatal testing for mitochondrial disease.

Eur J Hum Genet 2014 Nov 19;22(11):1255-9. Epub 2014 Mar 19.

1] Wellcome Trust Centre for Mitochondrial Research, The Medical School, Institute for Ageing and Health, Newcastle University, Newcastle-upon-Tyne, UK [2] NHS Specialised Services for Rare Mitochondrial Disorders of Adults and Children UK, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2014.35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200441PMC
November 2014

Unexplained gastrointestinal symptoms: think mitochondrial disease.

Dig Liver Dis 2014 Jan 13;46(1):1-8. Epub 2013 Jun 13.

Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK. Electronic address:

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http://dx.doi.org/10.1016/j.dld.2013.04.008DOI Listing
January 2014

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.

J Neurol Neurosurg Psychiatry 2013 Jan 29;84(1):107-10. Epub 2012 Aug 29.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jnnp-2012-303232DOI Listing
January 2013

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

J Med Genet 2011 Sep 4;48(9):610-7. Epub 2011 Mar 4.

1MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jmg.2010.088328DOI Listing
September 2011

X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode.

Dev Med Child Neurol 2010 Jul 14;52(7):677-9. Epub 2010 May 14.

Paediatric Neurology, Oxford Radcliffe NHS Trust, Oxford, UK.

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http://dx.doi.org/10.1111/j.1469-8749.2010.03674.xDOI Listing
July 2010

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

J Clin Endocrinol Metab 2010 Jul 12;95(7):3512-6. Epub 2010 May 12.

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology, and Metabolism (OCDEM), Churchill Hospital, Headington Oxford OX3 7LJ, UK.

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http://dx.doi.org/10.1210/jc.2009-2532DOI Listing
July 2010

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

Hum Mol Genet 2008 Aug 16;17(16):2496-506. Epub 2008 May 16.

Nuffield Department of Obstetrics and Gynaecology, University of Oxford, The Women's Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddn150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2486441PMC
August 2008

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.

Nat Clin Pract Endocrinol Metab 2008 Jan;4(1):53-8

Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/ncpendmet0718DOI Listing
January 2008

Catastrophic visual loss in a patient with Friedreich ataxia.

Arch Ophthalmol 2007 Feb;125(2):273-4

Department of Clinical Genetics, Churchill Hospital, Churchill Drive, Oxford, England.

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http://dx.doi.org/10.1001/archopht.125.2.273DOI Listing
February 2007

Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.

Genet Test 2005 ;9(3):190-9

National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Odstock, Salisbury, Wiltshire, United Kingdom.

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http://dx.doi.org/10.1089/gte.2005.9.190DOI Listing
January 2006