Georg Christoph Korenke


Ontology type: schema:Person     


Person Info

NAME

Georg Christoph

SURNAME

Korenke

Publications in SciGraph latest 50 shown

  • 2018-05 Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-01 FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants in GENETICS IN MEDICINE
  • 2015-06 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome in NATURE GENETICS
  • 2014-06 Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome in MEDIZINISCHE GENETIK
  • 2013-11 A de novo gain-of-function mutation in SCN11A causes loss of pain perception in NATURE GENETICS
  • 2012-01 Morbus Niemann-Pick Typ C in MONATSSCHRIFT KINDERHEILKUNDE
  • 2011-05 Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features in NEUROGENETICS
  • 2008-12 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2005-09 Menkes-Syndrom in MONATSSCHRIFT KINDERHEILKUNDE
  • 2005-07 Defekt der langkettigen 3-Hydroxy-Acyl-CoA-Dehydrogenase—LCHAD-Defekt in MONATSSCHRIFT KINDERHEILKUNDE
  • 2005-05 Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2004-04 Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature in EUROPEAN JOURNAL OF PEDIATRICS
  • 2003-10 Role of leukotrienes as indicators of the inflammatory demyelinating reaction in x-linked cerebral adrenoleukodystrophy in JOURNAL OF NEUROLOGY
  • 2003-07 Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2003 Evaluation of the Preventive Effect of Glyceryl Trioleate-Trierucate (“Lorenzo’s Oil”) Therapy in X-Linked Adrenoleukodystrophy: Results of Two Concurrent Trials in PEROXISOMAL DISORDERS AND REGULATION OF GENES
  • 2000-06 UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2000-03 Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1997-03 Decreased platelet membrane anisotropy in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1997-03 Progression of X-linked adrenoleukodystrophy under interferon-β therapy in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1997-02 Hypoparathyroidism and Deafness Associated with Pleioplasmic Large Scale Rearrangements of the Mitochondrial DNA: A Clinical and Molecular Genetic Study of Four Children with Kearns-Sayre Syndrome in PEDIATRIC RESEARCH
  • 1997-01 Medikamentöse und diätetische Therapie der mitochondrialen Zytopathien des Kindesalters* in MONATSSCHRIFT KINDERHEILKUNDE
  • 1996-09 Failure of beta interferon therapy in X-linked adrenoleukodystrophy in EUROPEAN JOURNAL OF PEDIATRICS
  • 1996-02 Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy in HUMAN GENETICS
  • 1995-01 Glyceroltrioleate/glyceroltrierucate therapy in 16 patients with X-chromosomal adrenoleukodystrophy/adrenomyeloneuropathy: Effect on clinical, biochemical and neurophysiological parameters in EUROPEAN JOURNAL OF PEDIATRICS
  • 1994-12-01 Glyceroltrioleate/glyceroltrierucate therapy in 16 patients with X-chromosomal adrenoleukodystrophy/ adrenomyeloneuropathy: effect on clinical, biochemical and neurophysiological parameters in EUROPEAN JOURNAL OF PEDIATRICS
  • 1992-12 Atypical (Mild) Forms of Dihydropteridine Reductase Deficiency: Neurochemical Evaluation and Mutation Detection in PEDIATRIC RESEARCH
  • 1992-03 Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies in EUROPEAN JOURNAL OF PEDIATRICS
  • 1990-12 Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies in EUROPEAN JOURNAL OF PEDIATRICS
  • 1990-05 Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1990 Komplex-I-Defizienzen im Kindesalter in AKTUELLE NEUROPÄDIATRIE 1989
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