Publications by authors named "Jaume Colomer"

42Publications

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

Pediatr Neurol 2020 Nov 5;115:50-65. Epub 2020 Nov 5.

Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca and Hospital Sant Joan de Déu, Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.

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November 2020

The clinical, histologic, and genotypic spectrum of -related myopathy: A case series.

Neurology 2020 09 13;95(11):e1512-e1527. Epub 2020 Aug 13.

From the Basic and Translational Myology Lab (R.N.V.-Q., V.G., A.F.), UMR8251, Université de Paris/CNRS; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (R.N.V.-Q., B. Eymard, N.B.R., A.F.) and Neuromuscular Morphology Unit (N.B.R., M.F.), Institut de Myologie, Pitié-Salpêtrière Hospital, AP-HP, Paris, France; Department of Paediatric Neurology (M.v.d.H.), Medinzinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany; AP-HP (C.M., P.R.), Centre de Génétique Moléculaire et Chromosomique, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, GH Pitié-Salpêtrière, Paris; Department of Neurology (V.G.), University Hospital of Montpellier, France; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Bambino Gesu' Children's Research Hospital, Rome, Italy; Departamento de Neurología Pediátrica (C.C.), Clínica Las Condes, Santiago, Chile; Paediatrics Department (D.C.), Hôpital de Hautepierre, Strasbourg, France; Neuromuscular Unit (J.C.), Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER) (J.C.), ISCIII; Department of Neurology (M.L.C.), Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos; Department of Medicine (M.L.C.), Universidad Complutense de Madrid, Spain; Department of Neurology (M.d.V.), Amsterdam University Medical Centre, Amsterdam Neuroscience, the Netherlands; Department of Pediatric Neurology (I.D.), Necker Enfants Malades Hospital, Paris Descartes University, France; Department of Child Neurology (N.G.), University Hospitals Leuven, Belgium; Department of Pediatric Neurology (A.K.), Center for Chronically Sick Children, Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics (E.L.), CHRU de Tours, Université François Rabelais de Tours, UMR INSERM U1253, Tours, France; Department of Neuropediatrics (J.L.), University Children's Hospital of Basel (UKBB), Switzerland; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (E.M.), Neurology Department, Raymond-Poincaré Hospital, AP-HP, Garches; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (M.M.), Service de Neuropédiatrie, Hôpital Trousseau, Paris, France; Department of Biomedical and Neuromotor Sciences (L.M.), University of Bologna, Italy; Réanimation Médicale, Physiologie-Explorations Fonctionnelles et Centre d'Investigation Clinique, UMR 1429 (D.O.), INSERM-UMR, 1179, UVSQ (D.O.), and Neuromuscular Unit, Department of Pediatric Neurology, Intensive Care and Rehabilitation, AP-HP, UVSQ Paris Saclay (B. Estournet, S.Q.-R.), Hôpital Raymond Poincaré, Garches, France; Department of Neurology (U.R.), Medizinische Fakultät Carl Gustav Carus Technische Universität Dresden, German; Division of Pediatric Neurology, Department of Pediatrics (M.A.S.), College of Medicine, King Saud University, Riyadh, Saudi Arabia; Friedrich-Baur-Institut (B.S.-W.), Department of Neurology, Ludwig-Maximilians-University of Munich; Department of Pediatric Neurology (M.S.), University of Tübingen, Germany; The John Walton Muscular Dystrophy Research Centre (V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle Hospitals NHS Foundation Trust, UK; Department of Child Neurology (H.T.), Hacettepe University, School of Medicine, Ankara, Turkey; Centre de Compétence Neuromusculaire (J.A.U.), Hôpital Marin, Hendaye, France; Department of Neurology (A.v.d.K.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, the Netherlands; Pediatrics and Adolescent Medicine, Division of Pediatric Neurology (E.W.), University Medical Center Göttingen, Georg-August University Göttingen, Germany; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; and Department of Pediatric Neurology (U.S.), Developmental Neurology and Social Pediatrics, University of Essen, Germany.

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September 2020

Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child.

Neurol Neuroimmunol Neuroinflamm 2019 09 24;6(5). Epub 2019 Jul 24.

From the Neuromuscular Unit (L.C.-G., D.N.B., C.O., J.C., A.N.), Neurology Service, Research Institute, Sant Joan de Deu Children's Hospital, University of Barcelona; Neuromuscular Diseases Unit (C.L., L.Q.), Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona; Centro Investigación Biomédica en Red para Enfermedades Raras (CIBERER) (C.L., J.D., L.Q., T.A.), Madrid; Neuroimmunology Program (A.S., J.D., T.A.), Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS)-Hospital Clínic, University of Barcelona; Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain; Department of Neurology (J.D.), University of Pennsylvania, Philadelphia; and Pediatric Neuroimmunology Unit (T.A.), Sant Joan de Deu Children's Hospital, University of Barcelona, Spain.

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September 2019

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

Brain 2016 08 3;139(Pt 8):2143-53. Epub 2016 Jun 3.

1 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK

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August 2016

Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.

BMC Pediatr 2014 Oct 4;14:252. Epub 2014 Oct 4.

Neuromuscular Unit, Neurology Department, Fundación Sant Joan de Déu, Hospital Materno-Infantil Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues de Llobregat, Barcelona, Spain.

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October 2014

[Fractures in spinal muscular atrophy].

Rev Neurol 2013 Sep;57(5):207-11

Unidad de Enfermedades Neuromusculares, Servicio de Rehabilitación y Medicina Física, Hospital Universitari Sant Joan de Déu, 08950 Esplugues de Llobregat, Barcelona, España.

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September 2013

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

JIMD Rep 2013 6;7:123-8. Epub 2012 Jul 6.

Genetics and Molecular Medicine Unit, Instituto de Biomedicina de Valencia - CSIC and CIBER de Enfermedades Raras (CIBERER), Valencia, Spain.

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February 2013

[Hypotonia in the neonatal period: 12 years' experience].

Rev Neurol 2013 Jan;56(2):72-8

Servicio de Neurología Pediátrica, Hospital Sant Joan de Deu, 08950 Esplugues de Llobregat, Espana.

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January 2013

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Mol Genet Metab 2012 Nov 31;107(3):409-15. Epub 2012 Aug 31.

Division of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clinic, Instituto de Investigación Biomédica Pi Sunyer, 08028 Barcelona, Spain.

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November 2012

Molecular identification of an enterovirus 99 strain in Spain.

Arch Virol 2012 Mar 23;157(3):551-4. Epub 2011 Dec 23.

Enterovirus Laboratory, National Centre for Microbiology, Instituto de Salud Carlos III, Madrid, Spain.

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March 2012

Syndrome of fixed dystonia in adolescents--short term outcome in 4 cases.

Eur J Paediatr Neurol 2009 Sep 7;13(5):466-72. Epub 2008 Nov 7.

Department of Paediatric Neurology, Bristol Royal Hospital for Children, Level 6 UBHT Education Centre, Upper Maudlin Street, Bristol BS2 8AE, United Kingdom.

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September 2009