Publications by authors named "Meriel McEntagart"

50Publications

DCTN1-related Parkinson-plus disorder (Perry syndrome).

Pract Neurol 2020 Aug 20;20(4):317-319. Epub 2020 May 20.

Department of Neurology, St George's Hospital, London, UK

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http://dx.doi.org/10.1136/practneurol-2020-002505DOI Listing
August 2020

High on-clopidogrel platelet reactivity in ischaemic stroke or transient ischaemic attack: Systematic review and meta-analysis.

J Stroke Cerebrovasc Dis 2020 Jul 13;29(7):104877. Epub 2020 May 13.

St George's University Hospitals NHS Trust, Neurology, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2020.104877DOI Listing
July 2020

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.

Neurol Genet 2019 Dec 30;5(6):e369. Epub 2019 Oct 30.

Department of Neurology and Neurosurgery (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Department of Pediatrics (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Division of Clinical and Metabolic Genetics and Division of Neurology (L.G., G.Y.), The Hospital for Sick Children, University of Toronto, Toronto, Canada; Department of Child Neurology (F.K.C., M.S.V.D.K., N.I.W.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands; Department of Clinical Genetics (F.K.C., R.M.V.S.), VU University Medical Center, Amsterdam, The Netherlands; Department of Human Genetics (F.K.C.), Center for Biomedical Research, Diponegoro University, Semarang, Indonesia; Department of Pediatrics (L.S.), Faculty of Medicine, University of Szeged, Szeged, Hungary; Child Health and Human Development Program (L.T.T., K.G., G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Division of Medical Genetics, Department of Specialized Medicine (L.T.T., K.G., G.B.), McGill University Health Center, Montreal, Canada; Centre de Référence Neurogénétique (F.H., C.G.), Service de Génétique, CHU Bordeaux, Bordeaux, France; Department of Pediatrics (E.L.F.), Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China; Developmental Neurology Department (S.D.A.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Neuroscience and Neurorehabilitation Department (G.V.), Bambino Gesu Children's Hospital, Rome, Italy; Center for Pediatric Genomic Medicine (I.T.), Children's Mercy Hospitals and Clinics, Kansas City, MO; University of Missouri-Kansas City School of Medicine (I.T.), Kansas City, MO; Department of Pathology and Laboratory Medicine (I.T.), Children's Mercy Hospitals, Kansas City, MO; Department of Pediatrics (D.M.N.), Section of Medical Genetics, Ochsner for Children, New Orleans, LA; GeneDx (R.P.), Gaithersburg, MD; Division of Neurology (K.S.L.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Department of Pediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, United Kingdom; Department of Medical Genetics (T.P.), Telemark Hospital, Skien, Norway; Department of Paediatric Neurology (P.F.), St Georges University Hospital NHS Foundation Trust, London, United Kingdom; Clinical Genetics Service (M.M.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Clinical Genetics Department (J.R.), Royal Devon and Exeter Hospital NHS Trust, Exeter, United Kingdom; Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Center of Developmental Neurology (H.P.), Frankfurt, Germany; Department of Neurology (B.V.D.W.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Essen, Germany; Department of Clinical Genetics (A.D., C.S.), Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom; Wellcome Sanger Institute (DDD Study), Wellcome Genome Campus, Cambridge, United Kingdom; Department of Pediatrics (N.T.), Division of Child Neurology, University of Texas Health Science Center, Houston, TX, United States of America; Movement Disorders Center and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ, United States of America; Division of Neurology (S.S.), Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India; Division of Neurology (A.V.), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America; Department of Child Neurology (D.T.), Neurological Institute C. Besta Foundation IRCCS, Milan, Italy; Department of Functional Genomics (M.S.V.D.K.), VU University, Amsterdam, The Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital, Rome, Italy; Laboratoire MRGM, INSERM U1211, University Bordeaux, Bordeaux, France; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, Bordeaux, France; and Department of Human Genetics (G.B.), McGill University, Montreal, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927361PMC
December 2019

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

Eur J Med Genet 2019 Jan 23;62(1):27-34. Epub 2018 Apr 23.

West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.04.014DOI Listing
January 2019

Truncating mutations underlie a spectrum of dominant hereditary motor neuropathies.

Neurol Genet 2018 Apr 23;4(2):e222. Epub 2018 Mar 23.

RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866402PMC
April 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations.

Neuromuscul Disord 2017 Feb 3;27(2):170-174. Epub 2016 Nov 3.

Newcastle University John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.10.009DOI Listing
February 2017

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Am J Hum Genet 2016 Feb 28;98(2):363-72. Epub 2016 Jan 28.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M13 9WL, UK. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(15)00509-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500509
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http://dx.doi.org/10.1016/j.ajhg.2015.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746363PMC
February 2016

Prominent cognitive decline and behavioural disturbance in late-onset Alexander disease.

J Neurol Sci 2015 Oct 26;357(1-2):319-21. Epub 2015 Jul 26.

Dept. of Neurology, Atkinson Morley Neuroscience Centre, St. George's Hospital, Blackshaw Road, SW17 0QT London, United Kingdom.

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http://dx.doi.org/10.1016/j.jns.2015.07.038DOI Listing
October 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Clinical reasoning: rapidly progressive quadriparesis in a forgetful patient.

Neurology 2013 Nov;81(21):e154-8

From the Neurology Department (L.M.R., J.D.I., J.P.O.) and Medical Genetics Department (M.M.), St George's NHS Healthcare Trust, London, UK.

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http://dx.doi.org/10.1212/01.wnl.0000436063.12890.b2DOI Listing
November 2013

De novo mutations in MLL cause Wiedemann-Steiner syndrome.

Am J Hum Genet 2012 Aug 12;91(2):358-64. Epub 2012 Jul 12.

South West Thames Regional Genetics Service, St George's Hospital, University of London, London SW17 0RE, UK.

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http://dx.doi.org/10.1016/j.ajhg.2012.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415539PMC
August 2012

TRPV4 axonal neuropathy spectrum disorder.

J Clin Neurosci 2012 Jul 20;19(7):927-33. Epub 2012 May 20.

Department of Medical Genetics, Medical Genetics Unit, Floor 0, Jenner Wing, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.

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http://dx.doi.org/10.1016/j.jocn.2011.12.003DOI Listing
July 2012

Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.

Am J Med Genet A 2011 Dec 7;155A(12):3153-6. Epub 2011 Nov 7.

Department of Neurology, Schneider Children's Medical Center, Petach Tikva, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.34327
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http://dx.doi.org/10.1002/ajmg.a.34327DOI Listing
December 2011

Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes.

Genome 2008 Nov;51(11):959-62

Department of Medical Genetics, St George's University of London, Cranmer Terrace, London SW17ORE, United Kingdom.

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http://dx.doi.org/10.1139/G08-078DOI Listing
November 2008

Sudden death in a patient with mosaic ring X Turner syndrome and a neuronal migration disorder.

Clin Dysmorphol 2008 Jan;17(1):69-71

Department of Medical Genetics, St George's Hospital, Cranmer Terrace, London, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32823b007fDOI Listing
January 2008

Psychosocial issues that face patients with Charcot-Marie-Tooth disease: the role of genetic counseling.

J Genet Couns 2005 Aug;14(4):307-18

Royal Free Hospital, 8th Floor Oncology Suite, Pond Street, London, NW3 2QG.

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http://dx.doi.org/10.1007/s10897-005-0760-zDOI Listing
August 2005

Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24.

Ann Neurol 2005 Feb;57(2):293-7

Department of Medical Genetics, St. George's Hospital Medical School, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.20375DOI Listing
February 2005

Genotype-phenotype correlations in X-linked myotubular myopathy.

Neuromuscul Disord 2002 Dec;12(10):939-46

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

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http://dx.doi.org/10.1016/s0960-8966(02)00153-0DOI Listing
December 2002

Human piebaldism: six novel mutations of the proto-oncogene KIT.

Hum Mutat 2002 Sep;20(3):234

Medical Genetics Unit, St George's Hospital Medical School, London, United Kingdom.

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http://dx.doi.org/10.1002/humu.9057DOI Listing
September 2002