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Mitglied/er, Klinik für Allgemeine Pädiatrie mit Schwerpunkt Neuropädiatrie
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Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.
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Prenatal inflammation exacerbates hyperoxia-induced neonatal brain injuryIn: Journal of Neuroinflammation, Jg. 22, 2025, Nr. 1, 57DOI (Open Access)
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Proteomic and bioinformatic profiling of neutrophils in CLL reveals functional defects that predispose to bacterial infectionsIn: Blood Advances, Jg. 5, 2021, Nr. 5, S. 1259 – 1272DOI (Open Access)
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Involvement of CXCL1/CXCR2 During Microglia Activation Following Inflammation-Sensitized Hypoxic-Ischemic Brain Injury in Neonatal RatsIn: Frontiers in Neurology, Jg. 11, 2020, S. 540878DOI, Online Volltext (Open Access)
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Are Simple Magnetic Resonance Imaging Biomarkers Predictive of Neurodevelopmental Outcome at Two Years in Very Preterm Infants?In: Neonatology, Jg. 116, 2019, Nr. 4, S. 331 – 340
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Effects of fetal exposure to high-fat diet or maternal hyperglycemia on L-arginine and nitric oxide metabolism in lungIn: Nutrition and Diabetes, Jg. 7, 2017, S. e244DOI (Open Access)
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Loss of Functional Osteoprotegerin : More Than a Skeletal ProblemIn: The Journal of Clinical Endocrinology & Metabolism (JCEM), Jg. 102, 2017, Nr. 1, S. 210 – 219
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Plasma concentrations of osteocalcin are associated with the timing of pubertal progress in boysIn: Journal of Pediatric Endocrinology and Metabolism (JPEM), Jg. 30, 2017, Nr. 2, S. 141 – 147
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Fingolimod protects against neonatal white matter damage and long-term cognitive deficits caused by hyperoxiaIn: Brain, Behavior and Immunity, Jg. 52, 2016, S. 106 – 119DOI (Open Access)
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Maternal Vitamin D Status in Preeclampsia : Seasonal Changes Are Not Influenced by Placental Gene Expression of Vitamin D Metabolizing EnzymesIn: PLoS ONE, Jg. 9, 2014, Nr. 8, S. e105558DOI (Open Access)
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Sphingosin-1-phosphate-receptor modulation reduces hyperoxia mediated brain injuryIn: Journal of Neuroimmunology, Jg. 275, 2014, Nr. 1-2, S. 114
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Effect of Propofol in the Immature Rat Brain on Short- and Long-Term Neurodevelopmental OutcomeIn: PLoS ONE, Jg. 8, 2013, Nr. 5, S. e64480DOI, Online Volltext (Open Access)
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Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile paget's diseaseIn: The Journal of Clinical Endocrinology & Metabolism (JCEM), Jg. 98, 2013, Nr. 8, S. 3121 – 3126
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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophiesIn: Brain: A Journal of Neurology, Jg. 136, 2013, Nr. 1, S. 269 – 281DOI (Open Access)
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Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsIn: Journal of Neurology, Jg. 259, 2012, Nr. 5, S. 838 – 850
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Parental Diabetes : The Akita Mouse as a Model of the Effects of Maternal and Paternal Hyperglycemia in Wildtype OffspringIn: PLoS ONE, Jg. 7, 2012, Nr. 11, S. e50210DOI (Open Access)
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Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectIn: The American Journal of Human Genetics, Jg. 88, 2011, Nr. 2, S. 162 – 172DOI (Open Access)
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Impact of Experimental Neonatal Propofol Anaesthesia on Neurodevelopmental Short- and Long-Term OutcomeIn: Pediatric Research, Jg. 70, 2011, S. 31 – 31
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113 The Apoptotic Effect of Propofol in Immature Rat Brain and Possible Neuroprotection by ErythropoietinIn: Pediatric Research, Jg. 68, 2010, Nr. Suppl. 1, S. 60 – 60
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Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathyIn: Brain: A Journal of Neurology, Jg. 133, 2010, Nr. 7, S. 2123 – 2135DOI (Open Access)
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Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesisIn: European Journal of Human Genetics, Jg. 17, 2009, Nr. 11, S. 1463 – 1470
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Caveolinopathy – New mutations and additional symptomsIn: Neuromuscular Disorders, Jg. 18, 2008, Nr. 7, S. 572 – 578
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndromeIn: Human Genetics, Jg. 121, 2007, Nr. 6, S. 685 – 690DOI (Open Access)
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Expanding the spectrum of POMT1 mutations : limb-girdle muscular dystrophy with mental retardation and microcephaly (LGMD2K)In: Neuromuscular Disorders, Jg. 16, 2006, Nr. Suppl. 1, S. 77
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Novel nuclear encoded autosomal recessive mitochondriopathyIn: Neuromuscular disorders, Jg. 16, 2006, Nr. 9-10, S. 660
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125th ENMC International Workshop : Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The NetherlandsIn: Neuromuscular Disorders, Jg. 15, 2005, Nr. 1, S. 65 – 71
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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathyIn: Nature Genetics, Jg. 37, 2005, Nr. 12, S. 1312 – 1314
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Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy : a collective experience of five international centersIn: Neuromuscular Disorders, Jg. 15, 2005, Nr. 9-10, S. 588 – 594
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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndromeIn: Journal of Medical Genetics (eJMG), Jg. 41, 2004, Nr. 5, S. e61DOI (Open Access)
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Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)In: The American Journal of Human Genetics, Jg. 75, 2004, Nr. 4, S. 703 – 708DOI (Open Access)
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An autosomal recessive distal myopathy with cardiac involvement linked to 9p-q1 in Bulgarian gypsiesIn: Neuromuscular Disorders, Jg. 13, 2003, Nr. 7-8, S. 618 – 618
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Phenotypic spectrum associated with mutations in the fukutin-related protein geneIn: Annals of Neurology, Jg. 53, 2003, Nr. 4, S. 537 – 542
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Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia : a novel form of CMDIn: Neuromuscular Disorders, Jg. 12, 2002, Nr. 7-8, S. 623 – 630
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Deficiency of alpha-dystroglycan in muscle-eye-brain diseaseIn: Biochemical and Biophysical Research Communications (BBRC), Jg. 291, 2002, Nr. 5, S. 1283 – 1286
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Erratum to “Deficiency of α-dystroglycan in muscle–eye–brain disease”In: Biochemical and Biophysical Research Communications (BBRC), Jg. 293, 2002, Nr. 5, S. 1579 – 1579
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Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophiesIn: Neuromuscular Disorders. Amsterdam; Oxford; Frankfurt, M. [u.a.]: Elsevier, Jg. 22, 2012, Nr. 9-10, S. 812
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Congenital muscular dystrophy with adducted thumbs, mental retardation, cerebellar hypoplasia and cataracts is caused by mutation of Enaptin (Nesprin-1) : The third nuclear envelopathy with muscular dystrophyIn: Neuromuscular Disorders, Jg. 17, 2007, Nr. 9-10, S. 833 – 834
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Ubiquitin-proteasome pathway alteration in distal myopathy due to a mutation in a novel kelch proteinIn: European Journal of Pediatrics. Berlin: Springer, Jg. 166, 2007, Nr. 3, S. 290
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Novel nuclear encoded autosomal recessive mitochondriopathyIn: Neuromuscular Disorders, Jg. 16, 2006, Nr. 9-10, S. 660 – 660
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A Kelch protein is mutated in a novel amosomal dominant distal myopathyIn: Neuromuscular Disorders, Jg. 15, 2005, Nr. 9-10, S. 717 – 717
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Hereditary inclusion body myopathy in Bulgarian gypsiesIn: European Journal of Neurology. Hoboken: Wiley, Jg. 12, 2005, Nr. Suppl. 2, S. 282
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Limb girdle muscular dystrophies - Dominant formsIn: Neuromuscular Disorders, Jg. 15, 2005, Nr. 9-10, S. 677 – 678
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Prenatal diagnosis in laminin alpha-2 chain (merosin)-deficient congenital muscular dystrophy : a collective experience of 5 international centersIn: Neuromuscular Disorders. Amsterdam; Oxford; Frankfurt, M. [u.a.]: Elsevier, Jg. 15, 2005, Nr. 9-10, S. 704 – 704
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A new mutation in the transmembrane domain of Caveolin-3 in a patient with percussion-induced rapid muscle contractionsIn: Neuromuscular Disorders, Jg. 14, 2004, Nr. 8-9, S. 606 – 607
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Two novel heterozygous mutations in collagen VI alpha 3 gene leading to Ullrich Congenital Muscular DystrophyIn: Acta Neuropathologica. Berlin: Springer, Jg. 108, 2004, Nr. 4, S. 363 – 364
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Ullrich congenital muscular dystrophy caused by two novel mutations in COL6A3In: Neuromuscular Disorders, Jg. 14, 2004, Nr. 8-9, S. 615 – 615
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Amino-acid variations in the tail region of the beta cardiac myosin heavy chain gene (MYH7) associated with childhood onset distal myopathy (MPD1)In: HOMO: Journal of Comparative Human Biology, Jg. 54, 2003, Nr. 1, S. 78
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Biochemical-genotype/phenotype correlation in muscle-eye-brain diseaseIn: Neuromuscular Disorders, Jg. 13, 2003, Nr. 7-8, S. 637 – 637
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Mild muscle-eye-brain disease is compatible with preserved vision and normal-appearing supra- but not infratentorial brain structures on MRIIn: Neuromuscular Disorders, Jg. 13, 2003, Nr. 7-8, S. 637 – 637
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A novel autosomal recessive distal myopathy in Bulgarian gypsiesIn: Neuromuscular Disorders, Jg. 12, 2002, Nr. 7-8, S. 720 – 720
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A novel caveolin-3 mutation in autosomal dominant rippling muscle diseaseIn: Neuromuscular Disorders, Jg. 12, 2002, Nr. 7-8, S. 723 – 723
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Deficiency of -dystroglycan in muscle-eye-brain diseaseIn: The American Journal of Human Genetics. Amsterdam: Elsevier, Jg. 71, 2002, Nr. Suppl. 4, S. 518
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Muscle-eye-brain-like disease with abnormal expression of alpha-dystroglycan not caused by mutations in POMGnT1 geneIn: Journal of the Neurological Sciences. Amsterdam: Elsevier, Jg. 199, 2002, Nr. Suppl. 1, S. 105
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Neuropathological findings of fetal tissues in Walker-Warburg syndromeIn: Neuromuscular Disorders, Jg. 12, 2002, Nr. 7-8, S. 744 – 744
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New form of autosomal dominant distal myopathy with childhood onset with linkage to a new locusIn: Neuromuscular Disorders, Jg. 12, 2002, Nr. 7-8, S. 768 – 768
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Prenatal diagnosis in a family with muscle-eye-brain diseaseIn: Neuromuscular Disorders, Jg. 12, 2002, Nr. 7-8, S. 743 – 744
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Tissue distribution and subcellular localization of zeta-sarcoglycanIn: Neuromuscular Disorders, Jg. 12, 2002, Nr. 7-8, S. 733 – 733
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Tissue distribution of zeta-sarcoglycan, a novel member of the sarcoglycan familyIn: Journal of the Neurological Sciences. Amsterdam: Elsevier, Jg. 199, 2002, Nr. Suppl. 1, S. 84