Publications by authors named "Claudia Castiglioni"

37Publications

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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http://dx.doi.org/10.1212/WNL.0000000000010327DOI Listing
September 2020

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Lancet Diabetes Endocrinol 2020 07;8(7):594-605

Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/S2213-8587(20)30153-4DOI Listing
July 2020

Spontaneous symptomatic improvement in a pediatric patient with anti-3-hydroxy-3-methylglutraryl-coenzyme A reductase myopathy.

Neuromuscul Disord 2020 06 22;30(6):503-509. Epub 2020 May 22.

Departamento de Neurología Pediátrica, Clínica Las Condes, Lo Fontecilla 441, Santiago 7591046, Chile. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2020.03.008DOI Listing
June 2020

Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".

Ann Neurol 2019 11 3;86(5):803. Epub 2019 Oct 3.

Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1002/ana.25597DOI Listing
November 2019

Severe brain involvement in 5q spinal muscular atrophy type 0.

Ann Neurol 2019 09 24;86(3):458-462. Epub 2019 Jul 24.

Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1002/ana.25549DOI Listing
September 2019

Immunohistochemical expression of P-selectin, SP-A, HSP70, aquaporin 5, and fibronectin in saltwater drowning and freshwater drowning.

Int J Legal Med 2019 Sep 20;133(5):1461-1467. Epub 2019 Jun 20.

Centre Universitaire Romand de Médecine Légale, Rue Michel-Servet 1, 1206, Geneva, Chemin de la Vulliette 4, 1000, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00414-019-02105-1DOI Listing
September 2019

A comparative digital morphometric study of lung tissue in saltwater and freshwater drowning.

Forensic Sci Int 2019 May 12;298:157-160. Epub 2019 Mar 12.

University Center of Legal Medicine Lausanne-Geneva, Rue Michel-Servet, 1211 Geneva, Switzerland.

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http://dx.doi.org/10.1016/j.forsciint.2019.03.004DOI Listing
May 2019

[Respiratory care in spinal muscular atrophy in the new therapeutic era].

Rev Chil Pediatr 2018 Dec;89(6):685-693

Programa Trastornos Motores y Enfermedades Neuromusculares, Clínica Las Condes, Chile.

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http://dx.doi.org/10.4067/S0370-41062018005001208DOI Listing
December 2018

[Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance].

Rev Chil Pediatr 2018 Jun;89(3):399-408

Programa Enfermedades Neuromusculares y Trastornos Motores, Departamento de Neurología Pediátrica, Clínica Las Condes, Santiago, Chile.

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http://dx.doi.org/10.4067/S0370-41062018005000305DOI Listing
June 2018

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Eur Radiol 2018 Dec 25;28(12):5293-5303. Epub 2018 May 25.

Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.

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http://dx.doi.org/10.1007/s00330-018-5472-5DOI Listing
December 2018

19q13.12 microdeletion syndrome fibroblasts display abnormal storage of cholesterol and sphingolipids in the endo-lysosomal system.

Biochim Biophys Acta Mol Basis Dis 2018 06 24;1864(6 Pt A):2108-2118. Epub 2018 Mar 24.

Atlantic Research Center, Depts. of Pediatrics and Biochemistry & Molecular Biology, Dalhousie University, Halifax, Nova Scotia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2018.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394866PMC
June 2018

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

Eur J Hum Genet 2018 03 22;26(3):367-373. Epub 2018 Jan 22.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli", Rome, Italy.

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http://dx.doi.org/10.1038/s41431-017-0003-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839054PMC
March 2018

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.

Neuromuscul Disord 2017 Sep 24;27(9):836-842. Epub 2017 May 24.

Department of Pediatrics, University Hospital Cologne, Kerpener Str. 62, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.05.014DOI Listing
September 2017

Acute pulmonary emphysema in death by hanging: a morphometric digital study.

Int J Legal Med 2016 Sep 22;130(5):1281-5. Epub 2016 Jul 22.

Centre universitaire romand de médecine légale, Rue Michel-Servet 1, 1206, Geneva, Chemin de la Vulliette 4, 1000, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00414-016-1418-0DOI Listing
September 2016

Broadening the imaging phenotype of dysferlinopathy at different disease stages.

Muscle Nerve 2016 08 26;54(2):203-10. Epub 2016 May 26.

Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile (HCUCH), Santos Dumont 999, 2 º piso, Sector E. Independencia, 8380456, Santiago, Chile.

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http://doi.wiley.com/10.1002/mus.25045
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http://dx.doi.org/10.1002/mus.25045DOI Listing
August 2016

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

Eur J Paediatr Neurol 2015 Sep 14;19(5):497-503. Epub 2015 May 14.

Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile.

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http://dx.doi.org/10.1016/j.ejpn.2015.04.008DOI Listing
September 2015

Toward an objective measure of functional disability in dysferlinopathy.

Muscle Nerve 2016 Jan 23;53(1):49-57. Epub 2015 May 23.

Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santos Dumont 999, 2do. piso, Sector E. Independencia, 8380456, Santiago, Chile.

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http://dx.doi.org/10.1002/mus.24685DOI Listing
January 2016

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.

Muscle Nerve 2014 Dec 30;50(6):1011-6. Epub 2014 Oct 30.

Unidad de Neurología. Departamento de Pediatría, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/mus.24353DOI Listing
December 2014

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

Am J Med Genet A 2014 Sep 26;164A(9):2365-9. Epub 2014 Jun 26.

Unit of Neurology, Dept. of Pediatrics, Clínica Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/ajmg.a.36651DOI Listing
September 2014

PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.

Eur J Paediatr Neurol 2013 May 19;17(3):254-8. Epub 2012 Nov 19.

Unit of Neurology, Dept. of Pediatrics, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1016/j.ejpn.2012.10.010DOI Listing
May 2013

[Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy].

Rev Med Chil 2011 Feb 11;139(2):197-204. Epub 2011 Jul 11.

Unidad de Neurología, Departamento de Pediatría, Clínica Las Condes, Santiago, Chile.

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http://dx.doi.org//S0034-98872011000200009DOI Listing
February 2011

[Satoyoshi syndrome: report of one case].

Rev Med Chil 2009 Apr 25;137(4):542-6. Epub 2009 Jun 25.

Radiología, Clínica Las Condes, Santiago, Chile.

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http://dx.doi.org//S0034-98872009000400013DOI Listing
April 2009

Spastic paraparesis as a complication of percutaneous nephrolithothripsy (PNL) on a calyceal calculus of the left kidney.

Arch Ital Urol Androl 2007 Dec;79(4):147-50

Department of Legal and Economic Systems, Faculty of Law, University of Milan-Bicocca.

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December 2007

Phenotypic variability of a distinct deletion in McLeod syndrome.

Mov Disord 2007 Jul;22(9):1358-61

Department of Neurology, Clinica Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/mds.21536DOI Listing
July 2007

Fatal liver complications with flutamide.

Lancet 2006 Apr;367(9517):1140-1

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http://dx.doi.org/10.1016/S0140-6736(06)68498-5DOI Listing
April 2006