Publications by authors named "Christoph Korenke"

45Publications

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Genet Med 2020 Oct 7. Epub 2020 Oct 7.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.

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October 2020

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.

Eur J Med Genet 2020 Nov 26;63(11):104046. Epub 2020 Aug 26.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Institute of Human Genetics, Technische Universität München, Munich, Germany; Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany.

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November 2020

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

Parkinsonism Relat Disord 2020 05 28;74:6-11. Epub 2020 Mar 28.

Department of Neurology and Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.

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May 2020

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.

JIMD Rep 2019 Sep 20;49(1):48-52. Epub 2019 Aug 20.

Department of Paediatrics and Adolescent Medicine University Medical Center Göttingen Göttingen Germany.

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September 2019

Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations.

J Neurol Sci 2019 Jun 8;401:34-36. Epub 2019 Apr 8.

Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Fleischmannstraße 43, 17475 Greifswald, Germany. Electronic address:

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June 2019

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

JIMD Rep 2019 20;45:99-104. Epub 2018 Dec 20.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.

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December 2018

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 01 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

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January 2019

Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease.

J Neurol Sci 2017 08 22;379:296-297. Epub 2017 Jun 22.

Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany. Electronic address:

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August 2017

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Mol Genet Metab 2017 09 27;122(1-2):67-75. Epub 2017 Jun 27.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland; Bioanalytics & Biochemistry, Department of Natural Sciences, University of Applied Sciences, Rheinbach, Germany. Electronic address:

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September 2017

disease: Phenotype clarification and genotype-phenotype correlation.

Neurol Genet 2017 Jun 26;3(3):e148. Epub 2017 May 26.

Department of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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June 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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May 2017

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

Mol Genet Genomic Med 2017 Jan 20;5(1):21-27. Epub 2016 Dec 20.

Department of Human Genetics University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics University of Greifswald Greifswald Germany.

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January 2017

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.

Mol Syndromol 2016 Jul 18;7(3):144-52. Epub 2016 Jun 18.

Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.

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July 2016

Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

J Inherit Metab Dis 2008 Dec 20;31 Suppl 2:S299-302. Epub 2008 May 20.

Nijmegen Centre for Mitochondrial Disorders at Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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December 2008

Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.

Mol Genet Metab 2008 Aug 15;94(4):428-30. Epub 2008 May 15.

Department of General Pediatrics, University Children's Hospital, Moorenstr. 5, 40225 Duesseldorf, Germany.

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August 2008

Neonatal screening for defects of the mitochondrial trifunctional protein.

Mol Genet Metab 2005 Jun 24;85(2):108-14. Epub 2005 Mar 24.

Screening Laboratory, Hannover, Postfach 911009, D 30430 Hannover, Germany.

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June 2005

Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature.

Eur J Pediatr 2004 Apr 5;163(4-5):196-201. Epub 2004 Feb 5.

Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany.

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April 2004

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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January 2003

EEG features of glut-1 deficiency syndrome.

Epilepsia 2002 Aug;43(8):941-5

Department of Pediatrics and Neuropediatrics, Charité Campus Virchow, Humboldt University, Berlin, Germany.

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August 2002

New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.

Clin Chem 2002 May;48(5):772-5

Department of Neuropediatrics, Charité Virchow University Hospital, Augustenburger Platz 1, D-13353 Berlin, Germany.

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May 2002