Publications by authors named "Emma Matthews"

44Publications

Treatment Updates for Neuromuscular Channelopathies.

Curr Treat Options Neurol 2020 22;22(10):34. Epub 2020 Aug 22.

Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.

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http://dx.doi.org/10.1007/s11940-020-00644-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7443183PMC
August 2020

Skeletal Muscle Channelopathies.

Neurol Clin 2020 08;38(3):481-491

Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ncl.2020.04.003DOI Listing
August 2020

Improving genetic diagnostics of skeletal muscle channelopathies.

Expert Rev Mol Diagn 2020 Jul 12;20(7):725-736. Epub 2020 Jul 12.

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

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http://dx.doi.org/10.1080/14737159.2020.1782195DOI Listing
July 2020

Sodium channel myotonia may be associated with high-risk brief resolved unexplained events.

Wellcome Open Res 2020 12;5:57. Epub 2020 May 12.

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.15798.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7241273PMC
May 2020

Homozygous C-terminal loss-of-function Na1.4 variant in a patient with congenital myasthenic syndrome.

J Neurol Neurosurg Psychiatry 2020 Aug 2;91(8):898-900. Epub 2020 Jun 2.

Department of Neuromuscular disease, UCL Queen Sqaure Institute of Neurology, London, United Kingdom

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http://dx.doi.org/10.1136/jnnp-2020-323173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7115925PMC
August 2020

Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population.

Circ Genom Precis Med 2020 04 13;13(2):e002731. Epub 2020 Mar 13.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics (D.J.C., D.J.T., S.M.D., M.J.A.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGEN.119.002731DOI Listing
April 2020

Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches.

Lancet Child Adolesc Health 2020 07 3;4(7):536-547. Epub 2020 Mar 3.

Department of Neuromuscular Diseases, Medical Research Council Centre for Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, University College London Hospitals National Health Service Foundation Trust, London, UK.

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http://dx.doi.org/10.1016/S2352-4642(19)30425-0DOI Listing
July 2020

In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis.

Clin Neurophysiol 2020 Apr 27;131(4):816-827. Epub 2020 Jan 27.

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

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http://dx.doi.org/10.1016/j.clinph.2019.12.414DOI Listing
April 2020

Scratching the surface of subterranean biodiversity: Molecular analysis reveals a diverse and previously unknown fauna of Parabathynellidae (Crustacea: Bathynellacea) from the Pilbara, Western Australia.

Mol Phylogenet Evol 2020 01 14;142:106643. Epub 2019 Oct 14.

Australian Centre for Evolutionary Biology and Biodiversity, School of Biological Sciences, The University of Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ympev.2019.106643DOI Listing
January 2020

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Neuromuscul Disord 2019 10 19;29(10):747-757. Epub 2019 Aug 19.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.003DOI Listing
October 2019

Possible role of skeletal muscle mutation in apnea during seizure.

Epilepsia Open 2019 Sep 1;4(3):498-503. Epub 2019 Jul 1.

Department of Molecular Biology and Genetics Boğaziçi University Istanbul Turkey.

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http://dx.doi.org/10.1002/epi4.12347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698682PMC
September 2019

Genotype-phenotype association in patients with SCN4A mutation - Authors' reply.

Lancet 2019 06 6;393(10188):2301-2302. Epub 2019 Jun 6.

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/10.1016/S0140-6736(19)30214-4DOI Listing
June 2019

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Front Neurol 2018 26;9:456. Epub 2018 Jun 26.

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

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http://dx.doi.org/10.3389/fneur.2018.00456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028608PMC
June 2018

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na1.4.

Sci Rep 2018 06 26;8(1):9714. Epub 2018 Jun 26.

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.

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http://www.nature.com/articles/s41598-018-27822-2
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http://dx.doi.org/10.1038/s41598-018-27822-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018793PMC
June 2018

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy.

J Neurol Neurosurg Psychiatry 2019 02 16;90(2):243-245. Epub 2018 May 16.

Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jnnp-2017-317849DOI Listing
February 2019

Periodic paralysis.

Handb Clin Neurol 2018 ;148:505-520

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.1016/B978-0-444-64076-5.00032-6DOI Listing
August 2018

Atypical periodic paralysis and myalgia: A novel phenotype.

Neurology 2018 01 3;90(5):e412-e418. Epub 2018 Jan 3.

From the MRC Centre for Neuromuscular Diseases (E.M., F.J., R.S.S., D.F., M.P., D.R.R., K.S., H.H., E.H., R.Q., J.L.H., M.G.H.), Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Neuromuscular Diseases Unit/ALS Clinic (C.N.), Kantonsspital St. Gallen, Switzerland; Neurogenetics Unit (R.S., H.H.) and Department of Neuropathology (J.L.H.), National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Human Genetics Laboratory Genetica (R.S.), Zurich, Switzerland; Genetics Department (R.M.), Viapath, Guy's Hospital, London; Wellcome Trust Centre for Mitochondrial Research (A.S.), University of Newcastle, Framlington Place, Newcastle Upon Tyne, UK; Institute of Pathology (E.H.), Belfast Health and Social Care Trust, Northern Ireland; Department of Neurology (J.P.), John Radcliffe Hospital, Oxford, UK; Departments of Biomedicine and Anesthesia (S.T.), Basel University Hospital, Switzerland; Department of Life Sciences (S.T.), Microbiology and Applied Pathology Section, University of Ferrara, Italy; Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina Children's Hospital, St. Thomas' Hospital; and Department of Basic and Clinical Neuroscience (H.J.), Institute of Psychiatry, Psychology and Neuroscience, and Randall Division of Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790PMC
January 2018

Homozygous mutation in causing distal vacuolar myopathy and motor neuropathy.

Neurol Genet 2017 Aug 6;3(4):e168. Epub 2017 Jul 6.

MRC Centre for Neuromuscular Diseases (E.B., A.M.R., J.C.B., M.G.H., J.L.H., M.M.R., E.M.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., A.M.P., M.G.H., H.H., J.L.H.), and Division of Neuropathology (J.L.H.), UCL Institute of Neurology, London; Department of Neurology (M.S.), The Royal London Hospital; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499975PMC
August 2017

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.

J Pediatr 2017 09 26;188:181-185.e6. Epub 2017 Jun 26.

Dubowitz Neuromuscular Center and MRC Center for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1016/j.jpeds.2017.05.081DOI Listing
September 2017

Corticosteroids for the treatment of Duchenne muscular dystrophy.

Cochrane Database Syst Rev 2016 May 5(5):CD003725. Epub 2016 May 5.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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http://dx.doi.org/10.1002/14651858.CD003725.pub4DOI Listing
May 2016

Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies.

JAMA Neurol 2015 Dec;72(12):1531-3

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, University College London Institute of Neurology, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2015.2338DOI Listing
December 2015

Innovative care model for patients with complex muscle diseases.

Curr Opin Neurol 2014 Oct;27(5):607-13

aMRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery bDubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1097/WCO.0000000000000132DOI Listing
October 2014

Tremor.

BMJ 2013 Dec 12;347:f7200. Epub 2013 Dec 12.

Accident and Emergency Department, Watford General Hospital, Watford WD18 0HB, UK.

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http://dx.doi.org/10.1136/bmj.f7200DOI Listing
December 2013

Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.

Neuromuscul Disord 2013 Aug 27;23(8):637-46. Epub 2013 Jun 27.

MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2013.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744809PMC
August 2013

Prevalence study of genetically defined skeletal muscle channelopathies in England.

Neurology 2013 Apr 20;80(16):1472-5. Epub 2013 Mar 20.

Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and University College London Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1212/WNL.0b013e31828cf8d0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662361PMC
April 2013

Sodium and chloride channelopathies with myositis: coincidence or connection?

Muscle Nerve 2011 Aug 22;44(2):283-8. Epub 2011 Jun 22.

Medical Research Council Centre for Neuromuscular Disease, UCL, Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1002/mus.22120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3136616PMC
August 2011

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

Ann Neurol 2011 Feb;69(2):328-40

Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College London, Institute of Neurology London, UK.

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http://dx.doi.org/10.1002/ana.22238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3051421PMC
February 2011

Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.

Arch Neurol 2011 Jan;68(1):127-9

Institute of Neurology and Medical Research Council Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, University College London, London, England.

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http://dx.doi.org/10.1001/archneurol.2010.347DOI Listing
January 2011

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.

Neuromuscul Disord 2011 Jan 3;21(1):37-40. Epub 2010 Dec 3.

Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2010.11.003DOI Listing
January 2011

Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias.

Curr Opin Neurol 2007 Oct;20(5):558-63

MRC Centre for Neuromuscular Disease, Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1097/WCO.0b013e3282efc16cDOI Listing
October 2007