Publications by authors named "Ekkehard Wilichowski"

29Publications

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

Combination of microdissection and single cell quantitative real-time PCR revealed intercellular mitochondrial DNA heterogeneities in fibroblasts of Kearns-Sayre syndrome patients.

Mitochondrion 2018 11 6;43:37-42. Epub 2018 Aug 6.

Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg-August-Universität Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1016/j.mito.2018.08.004DOI Listing
November 2018

[Intrathecal Nursinersen Therapy in Children with Spinal Muscular Atrophy and Spinal Deformities].

Klin Padiatr 2018 07 29;230(4):231-233. Epub 2018 Jan 29.

Department of Trauma, Orthopaedic and Plastic Surgery, Pediatric Orthopaedics, University Medical Center Göttingen, Göttingen.

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http://dx.doi.org/10.1055/s-0044-100621DOI Listing
July 2018

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

Eur J Pediatr 2014 Sep 29;173(9):1253-6. Epub 2014 Jun 29.

Department of Pediatric Cardiology and Intensive Care Medicine, University Hospital, Georg-August University Göttingen, Robert-Koch Str. 40, 37075, Göttingen, Germany,

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http://link.springer.com/content/pdf/10.1007/s00431-014-2368
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http://link.springer.com/10.1007/s00431-014-2368-5
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http://dx.doi.org/10.1007/s00431-014-2368-5DOI Listing
September 2014

Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome.

Mitochondrion 2011 May 16;11(3):413-20. Epub 2010 Dec 16.

Department of Pediatrics and Pediatric Neurology, University Medicine Göttingen, Georg August University, Robert-Koch-Str. 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1016/j.mito.2010.12.011DOI Listing
May 2011

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

Hum Mol Genet 2010 Apr 15;19(8):1413-24. Epub 2010 Jan 15.

Center for Child and Adolescent Medicine, Center for Metabolic Diseases Heidelberg, Department I, Im Neuenheimer Feld 153, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1093/hmg/ddq016DOI Listing
April 2010

Magnetic resonance imaging and proton magnetic resonance spectroscopy of megalencephaly and dilated Virchow-Robin spaces.

Pediatr Neurol 2006 Jan;34(1):35-40

Department of Pediatrics and Neuropediatrics, Georg-August-Universität, Göttingen, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.05.012DOI Listing
January 2006

Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis.

Eur J Pediatr 2005 May 22;164(5):306-10. Epub 2005 Feb 22.

Department of Paediatrics and Paediatric Neurology, Georg August University, Faculty of Medicine, Robert-Koch-Strasse 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1007/s00431-004-1602-yDOI Listing
May 2005

Effectiveness of creatine monohydrate in mitochondrial encephalomyopathies.

Pediatr Neurol 2003 Jan;28(1):53-8

Department of Pediatrics, Tokyo Women's Medical University, Japan.

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http://dx.doi.org/10.1016/s0887-8994(02)00469-1DOI Listing
January 2003

Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy.

Eur J Pediatr 2003 Jan 19;162(1):6-14. Epub 2002 Nov 19.

Department of Paediatrics and Neuropaediatrics, Georg-August University Göttingen, Robert-Koch-Strasse 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1007/s00431-002-1097-3DOI Listing
January 2003

Current concepts of mitochondrial disorders in childhood.

Semin Pediatr Neurol 2002 Jun;9(2):151-9

Department of Neuropediatrics, University Children's Hopsital, Heidelberg, Germany.

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http://dx.doi.org/10.1053/spen.2002.33800DOI Listing
June 2002

Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA.

Am J Med Genet 2002 Jun;110(1):57-61

Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.10410DOI Listing
June 2002