Publications by authors named "Evangeline Wassmer"

76Publications

Treatment and outcome of aquaporin-4 antibody-positive NMOSD: A multinational pediatric study.

Neurol Neuroimmunol Neuroinflamm 2020 Sep 30;7(5). Epub 2020 Jul 30.

From the Department of Neurology (R.B.P., S.L.A.-P., J.A.d.P.) and Department of Radiology (INRAD) (C.d.M.R.), Hospital das Clínicas, Faculty of Medicine, University of São Paulo (HCFMUSP), Brazil; Queen Square MS Centre (Y.H., O.C.), UCL Institute of Neurology, Faculty of Brain Sciences, University College London; Department of Paediatric Neurology (Y.H., C.H.), Great Ormond Street Hospital for Children, London, United Kingdom; Assistance Publue-Hôpitaux de Paris (E.Y., K.D.), University Hospitals Paris South, Bicêtre Hospital, Le Kremlin Bicêtre, France; Neuroimmunology Program (T.A.) and Neurology Service (A.S.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, and Pediatric Neuroimmunology Unit (T.A.), Sant Joan de Deu (SJD) Children's Hospital, Universitat de Barcelona, Spain; Department of Neurology (A.B., R.N.), Erasmus University Medical Center, Rotterdam, the Netherlands; Division of Paediatric Neurology (C.L., M.B.), Department of Pediatrics I, Medical University of Innsbruck, Austria; Medical Center of Physical Therapy and Pain Medicine INNOVO (Y.M.), Lviv, Ukraine; Division of Pediatric Neurology (M.B.), Department of Pediatrics and Adolescent Medicine, and Department of Neurology (B.K.), Medical University of Vienna, Austria; Pediatric Neurology (E.W.), Birmingham Women and Children's Hospital, United Kingdom; Department of Neuroscience (L.P.), Pediatric Multiple Sclerosis Center, Bambino Gesù Children Hospital, IRCCS, Rome, Italy; Department of Neurology (M.C.) and Regional Multiple Sclerosis Centre (M.C.), University Hospital San Luigi Gonzaga, Orbassano, Italy; Department of Pediatric Neurology (K.R.), Vestische Kinder und Jugendklinik, Witten/Herdecke University, Datteln, Germany; Children's Neurosciences (M.L.), Evelina London Children's Hospital at Guy's and St Thomas' NHS Foundation Trust, King's Health Partners Academic Health Science Centre; Faculty of Life Sciences and Medicine (M.L.), King's College Hospital, London, United Kingdom; Neurology Department (R.M.), Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon; French Reference Network of Rare Inflammatory Brain and Spinal Diseases (R.M., K.D.), Le Kremlin Bicêtre, France; School of Medicine (D.K.S.), Brain Institute of Rio Grande do Sul (Brains), Pontifical Catholic University of Rio Grande Do Sul (PUCRS), Porto Alegre, Brazil; and Inserm UMR 1184 (K.D.), Immunology of Viral Infections and Autoimmune Diseases, CEA, IDMIT, Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1212/NXI.0000000000000837DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413715PMC
September 2020

Implementation and Early Evaluation of a Quantitative Electroencephalography Program for Seizure Detection in the PICU.

Pediatr Crit Care Med 2020 06;21(6):543-549

Paediatric Intensive Care Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.

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http://dx.doi.org/10.1097/PCC.0000000000002278DOI Listing
June 2020

Primary progressive multiple sclerosis presenting under the age of 18 years: Fact or fiction?

Mult Scler 2020 Mar 3:1352458520910361. Epub 2020 Mar 3.

Department of Neuroinflammation, Queen Square Multiple Sclerosis Centre, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK/Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1177/1352458520910361DOI Listing
March 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

Wilson disease in children and adolescents.

Arch Dis Child 2020 05 23;105(5):499-505. Epub 2020 Jan 23.

Liver Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, West Midlands, UK.

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http://dx.doi.org/10.1136/archdischild-2018-315705DOI Listing
May 2020

Improved performance of the 2017 McDonald criteria for diagnosis of multiple sclerosis in children in a real-life cohort.

Mult Scler 2019 Jul 18:1352458519863781. Epub 2019 Jul 18.

Queen Square Multiple Sclerosis Centre, Department of Neuroinflammation, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK/Department of Radiology and Nuclear Medicine, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1177/1352458519863781DOI Listing
July 2019

Clinical trials of disease-modifying agents in pediatric MS: Opportunities, challenges, and recommendations from the IPMSSG.

Neurology 2019 05 1;92(22):e2538-e2549. Epub 2019 May 1.

From the UCSF MS Center (E.W.), San Francisco, CA; The Children's Hospital of Philadelphia (B.B.), Perelman School of Medicine, University of Pennsylvania; Birmingham Children's Hospital (E.W.), UK; Department of Health Sciences (M.-P. S.), University of Genova and Ospedale Policlinico San Martino IRCCS; Department NEUROFARBA (M.-P.A.), University of Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi (M.-P.A.), Florence, Italy; Department of Neurology (R.H.), Erasmus MC, Rotterdam, the Netherlands; MS Comprehensive Care Center at NYU Langone (L.K.), New York, NY; Division of Paediatric Neurology (K.R.), Children's Hospital Datteln, University Witten/Herdecke, Datteln, Germany; Pediatric MS Center (S.T.), Department of Neurology, National Pediatric Hospital Dr. Garrahan, Buenos Aires, Argentina; and Partners Pediatric MS Center (T.C.), Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000007572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556085PMC
May 2019

Paediatric multiple sclerosis: a new era in diagnosis and treatment.

Dev Med Child Neurol 2019 09 1;61(9):1039-1049. Epub 2019 Apr 1.

Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/dmcn.14212
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http://dx.doi.org/10.1111/dmcn.14212DOI Listing
September 2019

Early predictors of epilepsy and subsequent relapse in children with acute disseminated encephalomyelitis.

Mult Scler 2020 03 7;26(3):333-342. Epub 2019 Feb 7.

Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK; Department of Neuroinflammation, Queen Square Multiple Sclerosis Centre, UCL Institute of Neurology, London, UK.

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http://journals.sagepub.com/doi/10.1177/1352458518823486
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http://dx.doi.org/10.1177/1352458518823486DOI Listing
March 2020

Utility and safety of plasma exchange in paediatric neuroimmune disorders.

Dev Med Child Neurol 2019 05 18;61(5):540-546. Epub 2019 Jan 18.

Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK.

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http://doi.wiley.com/10.1111/dmcn.14150
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http://dx.doi.org/10.1111/dmcn.14150DOI Listing
May 2019

A framework for measurement and harmonization of pediatric multiple sclerosis etiologic research studies: The Pediatric MS Tool-Kit.

Mult Scler 2019 07 22;25(8):1170-1177. Epub 2018 Jun 22.

Royal Victoria Hospital, Allan Memorial Institute and Neuroepidemiology Research Unit, Research Institute of the McGill University Health Centre, Montreal, QC, Canada/ Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, QC, Canada/ Department of Medicine, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1177/1352458518783345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6572633PMC
July 2019

Retinal nerve fibre layer thinning is associated with worse visual outcome after optic neuritis in children with a relapsing demyelinating syndrome.

Dev Med Child Neurol 2018 12 11;60(12):1244-1250. Epub 2018 Apr 11.

Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/dmcn.13757DOI Listing
December 2018

Myelin oligodendrocyte glycoprotein and aquaporin-4 antibodies are highly specific in children with acquired demyelinating syndromes.

Dev Med Child Neurol 2018 Sep 22;60(9):958-962. Epub 2018 Feb 22.

Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/dmcn.13703DOI Listing
September 2018

'Leukodystrophy-like' phenotype in children with myelin oligodendrocyte glycoprotein antibody-associated disease.

Dev Med Child Neurol 2018 04 30;60(4):417-423. Epub 2017 Dec 30.

Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/dmcn.13649DOI Listing
April 2018

Diagnostic algorithm for relapsing acquired demyelinating syndromes in children.

Neurology 2017 Jul 14;89(3):269-278. Epub 2017 Jun 14.

From the Department of Paediatric Neurology (Y.H., C.H.), Great Ormond Street Hospital for Children; Department of Neuroinflammation (Y.H., O.C.), Queen Square MS Centre, UCL Institute of Neurology; Department of Clinical Neuroscience (Y.H.), UCL Institute of Child Health; Paediatric Neuroradiology (K.M., W.K.C.), Great Ormond Street Hospital; Institutes of Neurology and Biomedical Engineering (F.B.), University College London, UK; Department of Radiology and Nuclear Medicine (F.B.), VU University Medical Centre, Amsterdam, the Netherlands; Nuffield Department of Clinical Neurosciences (A.V.), John Radcliffe Hospital, University of Oxford; Children's Neurosciences (M.L.), Evelina London Children's Hospital at Guy's and St Thomas' NHS Foundation Trust, King's Health Partners Academic Health Science Centre, London; and Department of Paediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004117DOI Listing
July 2017

Pediatric optic neuritis.

Neurology 2016 Aug;87(9 Suppl 2):S53-8

From the Division of Neurology (E.A.Y.), Hospital for Sick Children, Hospital for Sick Children Research Institute, Department of Pediatrics, University of Toronto, Ontario, Canada; Department of Neurology (J.S.G.), University of California, San Francisco; Department of Neurology (L.A.B.), Boston Children's Hospital, Boston, MA; Department of Neurology (E.W.), Birmingham Children's Hospital, Birmingham, UK; and Department of Neurology (A.W.), The Children's Hospital of Philadelphia, PA.

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http://dx.doi.org/10.1212/WNL.0000000000002822DOI Listing
August 2016

Pediatric multiple sclerosis: Perspectives from adolescents and their families.

Neurology 2016 Aug;87(9 Suppl 2):S4-7

From the Pediatric MS Center at NYU Langone (L.B.K., L.E.C.), New York, NY; Partners Pediatric MS Center (D.R.), Massachusetts General Hospital, Boston; Department of Nursing (M.M.), Stony Brook Children's Hospital, NY; and Birmingham Children's Hospital (E.W.), Birmingham, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002879DOI Listing
August 2016

International Pediatric MS Study Group Global Members Symposium report.

Neurology 2016 Aug;87(9 Suppl 2):S110-6

From the Department of Neurology (E. Wassmer), Birmingham Children's Hospital, UK; Partners Pediatric MS Center (T.C.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Canada; Department NEUROFARBA (M.P.A.), Section Neurosciences, University of Florence, Italy; Division of Neurology (A.W.), Perelman School of Medicine (B.B.), The Children's Hospital of Philadelphia, University of Pennsylvania; Divisione di Neurologia 2-Centro Studi Sclerosi Multipla (A.G.), Ospedale di Gallarate, Italy; Department of Neurology (R.Q.H.), MS Centre ErasMS, Erasmus MC, Rotterdam, the Netherlands; Lourie Center for Pediatric MS (L.B.K.), Stony Brook Children's, Stony Brook University, NY; Departments of Pediatrics and Neurology (N.M.), Yale University School of Medicine, New Haven, CT; Department of Pediatric Neurology (K.R.), Children's Hospital Datteln, University Witten/Herdecke, Germany; National Reference Center for Inflammatory Diseases of the Brain (M.T.), Hôpitaux Universitaires Paris-Sud, University Paris-Sud, France; Department of Neurology (S.T.), National Pediatric Hospital Dr. Juan P. Garrahan, Ciudad de Buenos Aires, Argentina; Pediatric MS Center (E. Waubant), UCSF Benioff Children's Hospital, and Neurology Department, UCSF, San Francisco, CA; and the Department of Neurology (A.J.K.), Royal Children's Hospital, Parkville, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000002880DOI Listing
August 2016

N-methyl-d-aspartate (NMDA) receptor antibodies encephalitis mimicking an autistic regression.

Dev Med Child Neurol 2016 10 3;58(10):1092-4. Epub 2016 Jun 3.

Paediatric Neuroscience, Evelina Children's Hospital @ Guys and St Thomas' NHS Foundation Trust, Kings Health Partners Academic Health Science Centre, London, UK.

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http://dx.doi.org/10.1111/dmcn.13169DOI Listing
October 2016

Neuromyelitis optica relapses: Race and rate, immunosuppression and impairment.

Mult Scler Relat Disord 2016 May 16;7:21-5. Epub 2016 Feb 16.

Nuffield Department of Clinical Neurosciences, Oxford University, John Radcliffe Hospital, Oxford, UK. Electronic address:

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http://dx.doi.org/10.1016/j.msard.2016.02.014DOI Listing
May 2016

Diffuse hypomyelination is not obligate for POLR3-related disorders.

Neurology 2016 Apr 30;86(17):1622-6. Epub 2016 Mar 30.

From the Laboratory of Neurogenetics of Motion (R.L.P.) and Department of Neuroradiology (R.L.P.), Montreal Neurological Institute and Hospital, and the Departments of Neurology and Neurosurgery (R.L.P., L.T.T., K.G., G.B.) and Pediatrics (R.L.P., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Departments of Child Neurology (F.K.C., M.S.v.d.K., N.I.W.) and Clinical Genetics (F.K.C., R.v.S.), VU University Medical Center, Amsterdam, the Netherlands; Department of Genetics (K.Õ.) United Laboratories, Tartu University Hospital, Tartu; Department of Pediatrics (K.Õ.), University of Tartu, Estonia; Institute of Human Genetics (T.H.), Technische Universität München; Institute of Human Genetics (T.H.), Helmholtz Zentrum München, Munich, Germany; Department of Neurology (E.W.), Birmingham Children's Hospital, UK; Department of Neurology (D.T.), University Clinic Essen, University of Duisburg-Essen, Germany; Department of Child and Adolescent Neurology (H.M.), Institute of Mother and Child, Warsaw, Poland; Department of Child Neurology (B.T.P.), AMC Academic Medical Center, Amsterdam, the Netherlands; West Midlands Regional Clinical Genetics Unit (C.P., H.C.), Birmingham Women's Hospital, UK; Departments of Pediatrics (T.A.) and Medical Genetics (H.O.), Faculty of Medicine (F.O.), Ege University, Izmir, Turkey; Department of Neurology (A.V.), Children's National Health System, Washington, DC; Neuroscience Campus Amsterdam (M.S.v.d.K., N.I.W.), the Netherlands; and Department of Medical Genetics (G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000002612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844237PMC
April 2016

Myelin oligodendrocyte glycoprotein antibodies are associated with a non-MS course in children.

Neurol Neuroimmunol Neuroinflamm 2015 Apr 12;2(2):e81. Epub 2015 Mar 12.

Nuffield Department of Clinical Neurosciences (Y.H., M.W., J.P., A.V., M.L., P.W.), John Radcliffe Hospital, University of Oxford, UK; Children's Neurosciences (M.A., M.L.), Evelina Children's Hospital at Guy's and St Thomas' NHS Foundation Trust, King's Health Partners Academic Health Science Centre, London, UK; Assistance Publique Hôpitaux de Paris (K.D., M.T.), Hopitaux Universitaires Paris Sud, France; Pediatric Neurology Department and National Referral Center for Neuroinflammatory Diseases (K.D., M.T.), Université Paris Sud, Le Kremlin-Bicêtre, Paris, France; Department of Paediatric Neurology (C.H.), Great Ormond Street Hospital for Children, London, UK; Department of Neurology and Center of Clinical Neuroscience (P.N.), General University Hospital in Prague, Czech Republic; First Faculty of Medicine (P.N.), Charles University in Prague, Czech Republic; and Department of Paediatric Neurology (E.W.), Birmingham Children's Hospital, UK.

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http://nn.neurology.org/lookup/doi/10.1212/NXI.0000000000000
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http://dx.doi.org/10.1212/NXI.0000000000000081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360800PMC
April 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Acute idiopathic transverse myelitis in children: early predictors of relapse and disability.

Neurology 2015 Jan 24;84(4):341-9. Epub 2014 Dec 24.

From Assistance Publique-Hôpitaux de Paris (K.D., H.M., M.T.), Hôpital Bicêtre, Pediatric Neurology Department, National Referral Center for Neuro-Inflammatory Diseases in Children, and University Paris Sud, Le Kremlin-Bicêtre, France; Children's Neurosciences (M.A., Y.H., M.L.), Evelina Children's Hospital at Guy's & St Thomas' NHS Foundation Trust, Kings Health Partners Academic Health Science Centre, London; the Department of Paediatric Neurology (C.H., G.N.), Great Ormond Street Hospital for Children, London, UK; Assistance Publique-Hôpitaux de Paris (B.H.), Hôpital Bicêtre, Pediatric Radiology Department, Le Kremlin-Bicêtre, France; and the Department of Paediatric Neurology (E.W.), Birmingham Children's Hospital, UK.

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http://www.neurology.org/content/84/4/341.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000117
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http://dx.doi.org/10.1212/WNL.0000000000001179DOI Listing
January 2015

RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype.

Eur J Paediatr Neurol 2015 Mar 9;19(2):106-13. Epub 2014 Dec 9.

Children's Neurosciences, Evelina Children's Hospital, @Guy's and St Thomas' NHS Trust, London, King's Health Partners Academic Health Science Centre, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798140018
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http://dx.doi.org/10.1016/j.ejpn.2014.11.010DOI Listing
March 2015

Diagnostic delays in paediatric stroke.

J Neurol Neurosurg Psychiatry 2015 Aug 23;86(8):917-21. Epub 2014 Oct 23.

Neurosciences Unit, UCL Institute of Child Health, London, UK School of Clinical Sciences, University of Bristol, Bristol, UK.

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http://jnnp.bmj.com/content/early/2014/10/23/jnnp-2014-30918
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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2014-309188
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http://dx.doi.org/10.1136/jnnp-2014-309188DOI Listing
August 2015

NMDA receptor antibodies associated with distinct white matter syndromes.

Neurol Neuroimmunol Neuroinflamm 2014 Jun 24;1(1):e2. Epub 2014 Apr 24.

Nuffield Department of Clinical Neurosciences (Y.H., L.J., P.W., S.R.I., C.B., A.V., M.L.) and Department of Pediatric Neurology (M.P.), John Radcliffe Hospital, University of Oxford; Children's Neurosciences (M.A., J.-P.L., M.L.), Evelina Children's Hospital at Guy's and St Thomas' NHS Foundation Trust, King's Health Partners Academic Health Science Centre, London; Department of Pediatric Neurology (C.H.), Great Ormond Street Hospital for Children, London; Department of Pediatrics (S.P.), St Mary's Hospital, Imperial College Academic Health Science Centre, London; Department of Neuroradiology (A.S.), Kings College Hospital, King's Health Partners Academic Health Science Centre, London; and Department of Pediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1212/NXI.0000000000000002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202680PMC
June 2014

Mutations in CECR1 associated with a neutrophil signature in peripheral blood.

Pediatr Rheumatol Online J 2014 24;12:44. Epub 2014 Sep 24.

Manchester Centre for Genomic Médecine Interne et Vasculaire of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK ; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France ; Paris Descartes University, Paris, France ; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, 3rd Floor, Room 309, 24 boulevard du Montparnasse, 75015 Paris, France.

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http://dx.doi.org/10.1186/1546-0096-12-44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181355PMC
May 2015

Paediatric neuromyelitis optica: clinical, MRI of the brain and prognostic features.

J Neurol Neurosurg Psychiatry 2015 Apr 4;86(4):470-2. Epub 2014 Aug 4.

Nuffield Department of Clinical Neurosciences, Oxford University Hospitals National Health Service Trust, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jnnp-2014-308550DOI Listing
April 2015

Utility and safety of rituximab in pediatric autoimmune and inflammatory CNS disease.

Neurology 2014 Jul 11;83(2):142-50. Epub 2014 Jun 11.

From the Neuroimmunology Group (R.C.D., F.B.), Children's Hospital at Westmead, University of Sydney, Australia; Boston Children's Hospital (L.V.D., M.P.G.), MA; the Division of Rheumatology (M.T., S.M.B.), The Hospital for Sick Children, University of Toronto, Canada; Children's Hospital of Philadelphia (A.T.W., S.N., B.B.), University of Pennsylvania; Paediatric Neurology and Rheumatology (E.M., A.S.), Texas Children's Hospital, Baylor College of Medicine, Houston; Assistance Publique-Hopitaux de Paris (K.D., M.T.), Hôpitaux Universitaires Paris-Sud, National Referral Center for Neuro-Inflammatory Diseases in Children, Pediatric Neurology Department and Université Paris-Sud, Inserm U1012, Le Kremlin-Bicêtre, France; Royal Children's Hospital Melbourne (E.A., A.K.), Australia; Great Ormond Street Hospital NHS Trust (M.R.E., C.H.), London; UCL Institute of Child Health (D.E., P.A.B.), London; Alder Hey Children's NHS Foundation Trust and the Institute of Infection and Global Health (R.K.), University of Liverpool, UK; Children's Hospital of Pittsburgh (G.A.), University of Pittsburgh, PA; Hacettepe University Child Neurology (B.A.), Turkey; Birmingham Children's Hospital (E.W.); John Radcliffe Hospital (K.H.), Oxford, UK; Neurosciences Unit and Mater Medical Research Institute (C.J.R.), Mater Children's Hospital, South Brisbane, University of Queensland, Australia; Alberta Children's Hospital (S.M.B.), Calgary, University of Calgary, Canada; and Evelina Children's Hospital (M.L.), London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000000570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117174PMC
July 2014

Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study.

Lancet Neurol 2014 Jan 2;13(1):35-43. Epub 2013 Dec 2.

Neurosciences Unit, UCL Institute of Child Health, London, UK; School of Clinical Sciences, University of Bristol, Bristol, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(13)70290-4DOI Listing
January 2014

KCNJ10 mutations disrupt function in patients with EAST syndrome.

Nephron Physiol 2011 18;119(3):p40-8. Epub 2011 Aug 18.

Centre for Nephrology, University College London, Royal Free Hospital, London, UK.

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http://dx.doi.org/10.1159/000330250DOI Listing
April 2014

Prevalence and predictors of vitamin D insufficiency in children: a Great Britain population based study.

PLoS One 2011 22;6(7):e22179. Epub 2011 Jul 22.

School of Health and Population Sciences, University of Birmingham, Birmingham, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0022179PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3142132PMC
December 2011

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.

J Physiol 2011 Apr 7;589(Pt 7):1681-9. Epub 2011 Feb 7.

The Tony Kriss Visual Electrophysiology Unit, Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital/University College London, London WC1 N3JH, UK.

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http://dx.doi.org/10.1113/jphysiol.2010.198531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099023PMC
April 2011

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.

Brain 2010 Oct 9;133(10):2964-70. Epub 2010 Sep 9.

Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, UK.

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http://dx.doi.org/10.1093/brain/awq238DOI Listing
October 2010

Mechanical ventilation in children with severe neurological impairment.

Dev Med Child Neurol 2010 Nov;52(11):1068-9

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http://dx.doi.org/10.1111/j.1469-8749.2010.03740.xDOI Listing
November 2010

Neurologic problems after pediatric liver transplantation and combined liver and bowel transplantations: a single tertiary centre experience.

Transplantation 2010 Aug;90(3):319-24

Department of Neurology, Birmingham Children's Hospital Foundation NHS Trust, Birmingham, West Midlands, United Kingdom.

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http://dx.doi.org/10.1097/TP.0b013e3181e5b7fcDOI Listing
August 2010

Childhood optic neuritis clinical features and outcome.

Arch Dis Child 2011 Sep 16;96(9):860-2. Epub 2010 Jun 16.

Institute of Child Health, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH.

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http://dx.doi.org/10.1136/adc.2009.175422DOI Listing
September 2011

Degos disease: a new simulator of non-accidental injury.

Dev Med Child Neurol 2009 Aug 22;51(8):647-50. Epub 2009 Jun 22.

Department of Dermatology, Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1111/j.1469-8749.2009.03349.xDOI Listing
August 2009

Simultaneous peripheral and central demyelination.

J Child Neurol 2008 Dec;23(12):1495; author reply 1495-6

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http://dx.doi.org/10.1177/0883073808322328DOI Listing
December 2008

Diagnostic yield of brain biopsies in children presenting to neurology.

J Child Neurol 2008 Mar 11;23(3):253-8. Epub 2008 Jan 11.

Department of Pediatrics, Children's Hospital of Western Ontario, University of Western Ontario.

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http://dx.doi.org/10.1177/0883073807309254DOI Listing
March 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Clinical spectrum associated with cerebellar hypoplasia.

Pediatr Neurol 2003 May;28(5):347-51

Paediatric Neurology Department, Birmingham Children's Hospital, Steelhouse Lane, Birmingham NG7 2UH, United Kingdom.

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http://dx.doi.org/10.1016/s0887-8994(03)00016-xDOI Listing
May 2003