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Direktor/in, 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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International retrospective natural history study of LMNA-related congenital muscular dystrophyIn: Brain Communications Jg. 3 (2021) Nr. 3, 75Online Volltext: dx.doi.org/ (Open Access)
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Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophyIn: Neuromuscular Disorders Jg. 30 (2020) Nr. 1, S. 5 - 16Online Volltext: dx.doi.org/ (Open Access)
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Evaluating the effect of long-term idebenone treatment on respiratory morbidity in patients with Duchenne muscular dystrophy (DMD)In: European Respiratory Journal (ERJ) Jg. 54 (2019) Nr. Suppl. 63,Online Volltext: dx.doi.org/
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Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD) : a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialIn: Lancet Jg. 390 (2017) Nr. 10101, S. 1489 - 1498Online Volltext: dx.doi.org/ (Open Access)
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Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophyIn: Neuromuscular Disorders Jg. 27 (2017) Nr. 4, S. 307 - 314Online Volltext: dx.doi.org/ (Open Access)
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Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophyIn: Pediatric Pulmonology Jg. 52 (2017) Nr. 4, S. 508 - 515Online Volltext: dx.doi.org/ (Open Access)
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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophyIn: Neuromuscular Disorders Jg. 26 (2016) Nr. Suppl. 2, S. S156Online Volltext: dx.doi.org/
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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophyIn: Neuromuscular Disorders Jg. 26 (2016) Nr. 8, S. 473 - 480Online Volltext: dx.doi.org/ (Open Access)
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Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophyIn: Neuromuscular Disorders Jg. 26 (2016) Nr. Suppl. 2, S. S156 - S157Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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A European prospective study of the natural history of patients with type 2 and 3 spinal muscular atrophyIn: Neuromuscular Disorders Jg. 25 (2015) Nr. Suppl. 2, S. 195Online Volltext: dx.doi.org/
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Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS) : a double-blind randomised placebo-controlled phase 3 trialIn: Lancet Jg. 385 (2015) Nr. 9979, S. 1748 - 1757Online Volltext: dx.doi.org/
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Natural history of respiratory function changes in patients with Duchenne muscular dystrophy not using glucocorticoid steroidsIn: Neuromuscular Disorders Jg. 25 (2015) Nr. Suppl. 2, S. 305Online Volltext: dx.doi.org/
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An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathyIn: Neuromuscular Disorders Jg. 24 (2014) Nr. 9-10, S. 806 - 806Online Volltext: dx.doi.org/
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De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathyIn: Neurology Jg. 81 (2013) Nr. 22, S. 1953 - 1958Online Volltext: dx.doi.org/
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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 - 281Online Volltext: dx.doi.org/ (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 - 850Online Volltext: dx.doi.org/
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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 - 172Online Volltext: dx.doi.org/ (Open Access)
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Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathiesIn: Neurology Jg. 74 (2010) Nr. 2, S. 157 - 164Online Volltext: dx.doi.org/
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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 - 2135Online Volltext: dx.doi.org/ (Open Access)
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Caveolinopathy – New mutations and additional symptomsIn: Neuromuscular Disorders Jg. 18 (2008) Nr. 7, S. 572 - 578Online Volltext: dx.doi.org/
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Expect the unexpected : favourable outcome in Munchausen by proxy syndromeIn: European Journal of Pediatrics volume Jg. 167 (2008) Nr. 9, S. 1085 - 1088Online Volltext: dx.doi.org/
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Non-invasive ventilation reduces respiratory tract infections in children with neuromuscular disordersIn: Pediatric Pulmonology Jg. 43 (2008) Nr. 1, S. 67 - 71Online Volltext: dx.doi.org/
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Clinical and molecular phenotype of Aicardi-Goutieres syndromeIn: The American Journal of Human Genetics (AJHG) Jg. 81 (2007) Nr. 4, S. 713 - 725Online Volltext: dx.doi.org/ (Open Access)
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Correction for Amthor et al., Lack of myostatin results in excessive muscle growth but impaired force generationIn: Proceedings of the National Academy of Sciences of the United States of America (PNAS) Jg. 104 (2007) Nr. 10, S. 4240Online Volltext: dx.doi.org/
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndromeIn: Human Genetics Jg. 121 (2007) Nr. 6, S. 685 - 690Online Volltext: dx.doi.org/ (Open Access)
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Lack of myostatin results in excessive muscle growth but impaired force generationIn: Proceedings of the National Academy of Sciences of the United States of America (PNAS) Jg. 104 (2007) Nr. 6, S. 1835 - 1840Online Volltext: dx.doi.org/
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Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalitiesIn: Muscle & Nerve Jg. 35 (2007) Nr. 3, S. 396 - 401Online Volltext: dx.doi.org/
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Chest infections in young neuromuscular patients : The critical importance of preserving Vital Capacity - ReplyIn: Neuromuscular Disorders Jg. 16 (2006) Nr. 9-10, S. 614 - 615Online Volltext: dx.doi.org/
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Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe diseaseIn: The Journal of Pediatrics Jg. 149 (2006) Nr. 1, S. 89 - 97Online Volltext: dx.doi.org/ (Open Access)
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Clinical Findings and a Therapeutic Trial in the First Patient with β-Ureidopropionase DeficiencyIn: Neuropediatrics Jg. 37 (2006) Nr. 1, S. 20 - 25Online Volltext: dx.doi.org/
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Disseminated adenovirus infection with respiratory failure in pediatric liver transplant recipients : Impact of intravenous cidofovir and inhaled nitric oxideIn: Pediatric Transplantation Jg. 10 (2006) Nr. 1, S. 121 - 127Online Volltext: dx.doi.org/
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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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Genetic analysis of the first 4 patients with beta-ureidopropionase deficiencyIn: Nucleosides, Nucleotides & Nucleic Acids Jg. 25 (2006) Nr. 9-11, S. 1093 - 1098Online Volltext: dx.doi.org/
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IPPB-assisted coughing in neuromuscular disordersIn: Pediatric Pulmonology Jg. 41 (2006) Nr. 6, S. 551 - 557Online Volltext: dx.doi.org/
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Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathyIn: Biochemistry Jg. 45 (2006) Nr. 9, S. 2968 - 2977Online Volltext: dx.doi.org/
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Laing early onset distal myopathy : slow myosin defect with variable abnormalities on muscle biopsyIn: Journal of Neurology, Neurosurgery and Psychiatry Jg. 77 (2006) Nr. 2, S. 208 - 215Online Volltext: dx.doi.org/ (Open Access)
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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionIn: Nature Genetics Jg. 38 (2006) Nr. 8, S. 910 - 916Online Volltext: dx.doi.org/
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Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusIn: Nature Genetics Jg. 38 (2006) Nr. 8, S. 917 - 920Online Volltext: dx.doi.org/
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Novel nuclear encoded autosomal recessive mitochondriopathyIn: Neuromuscular disorders Jg. 16 (2006) Nr. 9-10, S. 660Online Volltext: dx.doi.org/
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Predictors of severe chest infections in pediatric neuromuscular disordersIn: Neuromuscular Disorders Jg. 16 (2006) Nr. 5, S. 325 - 328Online Volltext: dx.doi.org/
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Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutationsIn: Archives of Neurology Jg. 63 (2006) Nr. 2, S. 251 - 257Online Volltext: dx.doi.org/
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133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The NetherlandsIn: Neuromuscular Disorders Jg. 15 (2005) Nr. 11, S. 794 - 801Online Volltext: dx.doi.org/
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134th ENMC International Workshop : Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The NetherlandsIn: Neuromuscular Disorders Jg. 15 (2005) Nr. 11, S. 802 - 816Online Volltext: dx.doi.org/
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A newborn with severe liver failure, cardiomyopathy and transaldolase deficiencyIn: Journal of Inherited Metabolic Disease (JIMD) Jg. 28 (2005) Nr. 2, S. 169 - 179Online Volltext: dx.doi.org/
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An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizuresIn: Neurology Jg. 64 (2005) Nr. 1, S. 142 - 144Online Volltext: dx.doi.org/
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Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in JapanIn: Brain and Development Jg. 27 (2005) Nr. 4, S. 311 - 317Online Volltext: dx.doi.org/
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Defective protein glycosylation in patients with cutis laxa syndromeIn: European Journal of Human Genetics Jg. 13 (2005) Nr. 4, S. 414 - 421Online Volltext: dx.doi.org/
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Enzyme replacement therapy in classical infantile pompe disease : results of a ten-month follow-up studyIn: Neuropediatrics Jg. 36 (2005) Nr. 1, S. 6 - 11Online Volltext: dx.doi.org/
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Fumarase deficiency presenting with periventricular cystsIn: Journal of Inherited Metabolic Disease (JIMD) Jg. 28 (2005) Nr. 5, S. 799 - 800Online Volltext: dx.doi.org/
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Lektin-reaktives Alpha-Fetoprotein bei Patienten mit Tyrosinämie Typ IIn: Klinische Pädiatrie Jg. 217 (2005) Nr. 3, S. 142 - 146Online Volltext: dx.doi.org/
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Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 geneIn: Neurology Jg. 65 (2005) Nr. 12, S. 1930 - 1935Online Volltext: dx.doi.org/
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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 - 1314Online Volltext: dx.doi.org/
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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 - 594Online Volltext: dx.doi.org/
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Removal of metabolites, cytokines and hepatic growth factors by extracorporeal liver support in childrenIn: Journal of Pediatric Gastroenterology and Nutrition Jg. 40 (2005) Nr. 1, S. 54 - 59Online Volltext: dx.doi.org/
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Respiratory failure in Pompe disease : treatment with noninvasive ventilationIn: Neurology Jg. 64 (2005) Nr. 8, S. 1465 - 1467Online Volltext: dx.doi.org/
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Respiratory function assessment and intervention in neuromuscular disordersIn: Current Opinion in Neurology Jg. 18 (2005) Nr. 5, S. 543 - 547Online Volltext: dx.doi.org/
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Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease : results of a phase II clinical trialIn: Neuromuscular Disorders Jg. 15 (2005) Nr. 1, S. 24 - 31Online Volltext: dx.doi.org/
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Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome : a 2- to 5-year follow-up of 15 children enrolled prospectivelyIn: Neuropediatrics Jg. 36 (2005) Nr. 5, S. 302 - 308Online Volltext: dx.doi.org/
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Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2IIn: Neuromuscular Disorders Jg. 15 (2005) Nr. 12, S. 836 - 843Online Volltext: dx.doi.org/
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Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophiesIn: The American Journal of Pathology Jg. 164 (2004) Nr. 2, S. 727 - 737Online Volltext: dx.doi.org/
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Acute liver failure associated with Coxsackie virus B2 infection in a neonateIn: European Journal of Pediatrics Jg. 163 (2004) Nr. 2, S. 116 - 117Online Volltext: dx.doi.org/
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Albumin targeting of damaged muscle fibres in the mdx mouse can be monitored by MRIIn: Neuromuscular Disorders Jg. 14 (2004) Nr. 12, S. 791 - 796Online Volltext: dx.doi.org/
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Cardiac and respiratory failure in limb-girdle muscular dystrophy 2IIn: Annals of Neurology Jg. 56 (2004) Nr. 5, S. 738 - 741Online Volltext: dx.doi.org/
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Co-localization of fukutin and alpha-dystroglycan in the mouse central nervous systemIn: Developmental Brain Research Jg. 152 (2004) Nr. 2, S. 121 - 127Online Volltext: dx.doi.org/
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Congenital muscular dystrophy with short stature, proximal contractures and distal laxityIn: Neuropediatrics Jg. 35 (2004) Nr. 4, S. 224 - 229Online Volltext: dx.doi.org/
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Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3AIn: Neurogenetics Jg. 5 (2004) Nr. 4, S. 239 - 243Online Volltext: dx.doi.org/
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Effects of the ketogenic diet in the glucose transporter 1 deficiency syndromeIn: Prostaglandins, Leukotrienes and Essential Fatty Acids Jg. 70 (2004) Nr. 3, S. 321 - 327Online Volltext: dx.doi.org/
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Fukutin expression in mouse non-muscle somatic organs : its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophyIn: Brain and Development Jg. 26 (2004) Nr. 7, S. 469 - 479Online Volltext: dx.doi.org/
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G protein-coupled receptor-dependent development of human frontal cortexIn: Science Jg. 303 (2004) Nr. 5666, S. 2033 - 2036Online Volltext: dx.doi.org/ (Open Access)
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Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)In: Neurology Jg. 63 (2004) Nr. 11, S. 2165 - 2167Online Volltext: dx.doi.org/
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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus : a rare brain malformation syndrome associated with mental retardation and seizuresIn: Neuropediatrics Jg. 35 (2004) Nr. 6, S. 353 - 359Online Volltext: dx.doi.org/
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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. e61Online Volltext: dx.doi.org/ (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 - 708Online Volltext: dx.doi.org/ (Open Access)
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Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiencyIn: Acta Neuropathologica Jg. 108 (2004) Nr. 2, S. 154 - 167Online Volltext: dx.doi.org/
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Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2IIn: Neurology Jg. 62 (2004) Nr. 3, S. 513 - 514Online Volltext: dx.doi.org/
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Sleep disordered breathing in spinal muscular atrophyIn: Neuromuscular Disorders Jg. 14 (2004) Nr. 12, S. 797 - 803Online Volltext: dx.doi.org/
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The congenital muscular dystrophies in 2004 : a century of exciting progressIn: Neuromuscular Disorders Jg. 14 (2004) Nr. 10, S. 635 - 649Online Volltext: dx.doi.org/
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The pediatric neurologist of the 21st century needs an encyclopedic mindIn: Neuropediatrics Jg. 35 (2004) Nr. 6, S. 319 - 320Online Volltext: dx.doi.org/
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beta-Ureidopropionase deficiency : an inborn error of pyrimidine degradation associated with neurological abnormalitiesIn: Human Molecular Genetics Jg. 13 (2004) Nr. 22, S. 2793 - 2801Online Volltext: dx.doi.org/
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114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands : (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)In: Neuromuscular Disorders Jg. 13 (2003) Nr. 7-8, S. 579 - 588Online Volltext: dx.doi.org/
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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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Bilateral frontoparietal polymicrogyria : clinical and radiological features in 10 families with linkage to chromosome 16In: Annals of Neurology Jg. 53 (2003) Nr. 5, S. 596 - 606Online Volltext: dx.doi.org/
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Compensation for dystrophin-deficiency : ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteinsIn: Human Molecular Genetics Jg. 12 (2003) Nr. 19, S. 2467 - 2479Online Volltext: dx.doi.org/ (Open Access)
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Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disordersIn: Neuromuscular Disorders Jg. 13 (2003) Nr. 2, S. 123 - 128Online Volltext: dx.doi.org/
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Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitroIn: European Journal of Pediatrics Jg. 162 (2003) Nr. 2, S. 84 - 89Online Volltext: dx.doi.org/
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Hyperinsufflationsassistiertes Hustenmanöver bei neuromuskulären ErkrankungenIn: Monatsschrift Kinderheilkunde Jg. 151 (2003) Nr. 3, S. 269 - 273Online Volltext: dx.doi.org/
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Long-term noninvasive ventilation in children and adolescents with neuromuscular disordersIn: European Respiratory Journal (ERJ) Jg. 22 (2003) Nr. 4, S. 631 - 636Online Volltext: dx.doi.org/
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Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth DiseaseIn: Human Mutation Jg. 22 (2003) Nr. 2, S. 129 - 135Online Volltext: dx.doi.org/
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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycanIn: Human Molecular Genetics Jg. 12 (2003) Nr. 21, S. 2853 - 2861Online Volltext: dx.doi.org/
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Nichtinvasive Beatmung bei neuromuskulären ErkrankungenIn: Monatsschrift Kinderheilkunde Jg. 151 (2003) Nr. 3, S. 262 - 268Online Volltext: dx.doi.org/
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Nächtliche nichtinvasive Beatmung bei Kindern und Jugendlichen mit neuromuskulären Erkrankungen : Einfluss auf Schlaf und SymptomeIn: Wiener Klinische Wochenschrift Jg. 115 (2003) Nr. 24, S. 855 - 859Online Volltext: dx.doi.org/
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Progrediente neuromuskuläre Erkrankungen : Chronisches Atemmuskelversagen und schlafbezogene AtmungsstörungenIn: Monatsschrift Kinderheilkunde Jg. 151 (2003) Nr. 3, S. 256 - 261Online Volltext: dx.doi.org/
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Progressive dystonia in a 12-year-old boyIn: European Journal of Paediatric Neurology Jg. 7 (2003) Nr. 2, S. 85 - 88Online Volltext: dx.doi.org/
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Reversible infantile hypoglycorrhachia : possible transient disturbance in glucose transport?In: Pediatric Neurology Jg. 29 (2003) Nr. 4, S. 321 - 325Online Volltext: dx.doi.org/
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Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseIn: Human Molecular Genetics Jg. 12 (2003) Nr. 5, S. 527 - 534Online Volltext: dx.doi.org/ (Open Access)
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90th ENMC international workshop : European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The NetherlandsIn: Neuromuscular Disorders Jg. 12 (2002) Nr. 2, S. 201 - 210Online Volltext: dx.doi.org/
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98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The NetherlandsIn: Neuromuscular Disorders Jg. 12 (2002) Nr. 9, S. 889 - 896Online Volltext: dx.doi.org/
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A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneIn: Annals of Neurology Jg. 51 (2002) Nr. 6, S. 750 - 759Online Volltext: dx.doi.org/
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Airway nitric oxide in Duchenne muscular dystrophyIn: The Journal of Pediatrics Jg. 141 (2002) Nr. 1, S. 132 - 134Online Volltext: dx.doi.org/
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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 - 630Online Volltext: dx.doi.org/
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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 - 1286Online Volltext: dx.doi.org/
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Editorial CommentIn: Neuropediatrics Jg. 33 (2002) Nr. 6, S. 279 - 280Online Volltext: dx.doi.org/
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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 - 1579Online Volltext: dx.doi.org/
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Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome : impaired glucose transport into brain-- a reviewIn: European Journal of Pediatrics Jg. 161 (2002) Nr. 6, S. 295 - 304Online Volltext: dx.doi.org/
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Introduction of a ketogenic diet in young infantsIn: Journal of Inherited Metabolic Disease (JIMD) Jg. 25 (2002) Nr. 6, S. 449 - 460Online Volltext: dx.doi.org/
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Microlissencephaly in microcephalic osteodysplastic primordial dwarfism : a case report and review of the literatureIn: Neuropediatrics Jg. 33 (2002) Nr. 6, S. 309 - 313Online Volltext: dx.doi.org/
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Muscular dystrophies with contractures as predominant features : clinical syndromesIn: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 718 - 719
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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeIn: The American Journal of Human Genetics Jg. 71 (2002) Nr. 5, S. 1033 - 1043Online Volltext: dx.doi.org/ (Open Access)
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Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease : reassessing the nosology of early-onset myopathiesIn: The American Journal of Human Genetics Jg. 71 (2002) Nr. 4, S. 739 - 749(Open Access)
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Patterns and predictors of sleep disordered breathing in primary myopathiesIn: Thorax Jg. 57 (2002) Nr. 8, S. 724 - 728Online Volltext: dx.doi.org/
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Periaxin mutations cause a broad spectrum of demyelinating neuropathiesIn: Annals of Neurology Jg. 51 (2002) Nr. 6, S. 709 - 715Online Volltext: dx.doi.org/
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Editorial CommentIn: Neuropediatrics Jg. 36 (2005) Nr. 6, S. 351 - 352Online Volltext: dx.doi.org/
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P.264 SYROS study – long-term reduction in rate of respiratory function decline in patients with Duchenne muscular dystrophy treated with idebenoneIn: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S144Online Volltext: dx.doi.org/
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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 / 17th International Congress of The World Muscle Society Jg. 22 (2012) Nr. 9-10, S. 812Online Volltext: dx.doi.org/
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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 - 834Online Volltext: dx.doi.org/
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EUROSMART : European spinal muscular atrophy randomised placebo-controlled trial of acetyl-L-carnitine in spinal muscular atrophyIn: Neuromuscular Disorders Jg. 17 (2007) Nr. 9-10, S. 780 - 781Online Volltext: dx.doi.org/
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Ubiquitin-proteasome pathway alteration in distal myopathy due to a mutation in a novel kelch proteinIn: European Journal of Pediatrics Jg. 166 (2007) Nr. 3, S. 290
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Lack of myostatin results in satellite independent muscle fibre hypertrophy and mitochondrial depletionIn: Neuromuscular Disorders Jg. 16 (2006) Nr. 9-10, S. 724Online Volltext: dx.doi.org/
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Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathyIn: Neuromuscular Disorders Jg. 16 (2006) Nr. 9-10, S. 683 - 683Online Volltext: dx.doi.org/
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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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The increasing spectrum of Congenital Muscular DystrophiesIn: Neuromuscular Disorders Jg. 16 (2006) Nr. Suppl. 1, S. 144
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The spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutationsIn: Developmental Medicine & Child Neurology Jg. 48 (2006) Nr. Suppl. 104, S. 6
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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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Disseminated adenovirus infection and ARDS in pediatric liver transplant recipients : Impact of intravenous cidofovir and inhaled nitric oxideIn: Pediatric Transplantation Jg. 9 (2005) Nr. Suppl. 6, S. 72
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EUROSMART : motor function and muscle strength in 110 patients with spinal muscular atrophyIn: Neuromuscular Disorders Jg. 15 (2005) Nr. 9-10, S. 724
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Hereditary inclusion body myopathy in Bulgarian gypsiesIn: European Journal of Neurology Jg. 12 (2005) Nr. Suppl. 2, S. 282
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Laing early-onset distal myopathy - consistent clinical phenotype with variable abnormalities on muscle biopsyIn: Journal of the Neurological Sciences Jg. 238 (2005) Nr. Suppl. 1, S. S164 - S165
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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 Jg. 15 (2005) Nr. 9-10, S. 704 - 704
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SEPN-related myopathy : an emerging entity phenotypical and molecular analysis of 80 casesIn: Neuromuscular Disorders Jg. 15 (2005) Nr. 9-10, S. 715 - 715
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The spectrum of brain malformations in patients with FKRP gene mutationsIn: Neuromuscular Disorders Jg. 15 (2005) Nr. 9-10, S. 715 - 716
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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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Enzyme replacement therapy (ERT) for infantile onset Pompe disease : long term follow-up resultsIn: Genetics in Medicine Jg. 6 (2004) Nr. 4, S. 268
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Enzyme replacement therapy for infantile onset Pompe disease : long term follow-up resultsIn: Molecular Genetics and Metabolism Jg. 81 (2004) Nr. 3, S. 169 - 169
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Intermittent positive pressure breathing (IPPB) improves peak cough flow in pediatric neuromuscular disordersIn: Neuromuscular Disorders Jg. 14 (2004) Nr. 8-9, S. 598 - 598
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Two novel heterozygous mutations in collagen VI alpha 3 gene leading to Ullrich Congenital Muscular DystrophyIn: Acta Neuropathologica 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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Comparison of respiratory function in different subgroups of congenital muscular dystrophyIn: Neuromuscular Disorders Jg. 13 (2003) Nr. 7-8, S. 656 - 656
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Enzyme replacement therapy with recombinant human acid alpha glucosidase (rhGAA) in infantile Pompe disease (IPD) : Results from a Phase 2 studyIn: Pediatric Research Jg. 53 (2003) Nr. 4, Suppl., S. 259A
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Lamin A/C gene related disorders : the EUROMEN consortium experienceIn: Neuromuscular Disorders Jg. 13 (2003) Nr. 7-8, S. 657 - 657
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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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Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseIn: Neuromuscular Disorders Jg. 13 (2003) Nr. 7-8, S. 636 - 636
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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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A worldwide distribution and a broader clinical spectrum of muscle-eye-brain disease : a genotype-phenoltype correlationIn: The American Journal of Human Genetics Jg. 71 (2002) Nr. Suppl. 4, S. 519
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Daytime predictors of nocturnal hypoventilation in children with progressive neuromuscular diseasesIn: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 32
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Deficiency of -dystroglycan in muscle-eye-brain diseaseIn: The American Journal of Human Genetics Jg. 71 (2002) Nr. Suppl. 4, S. 518
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First description of a recessive form of Central Core Disease, transitorily presenting as Multi-minicore Disease and associated with a homozygous mutation in RYR1In: European Journal of Human Genetics Jg. 10 (2002) Nr. Suppl. 1, S. 247
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Limb girdle muscular dystrophy 21 is predominantly associated with a Leu276Ile mutation in the fukutin related-protein geneIn: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. S89 - S90
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Long-term effects of noninvasive ventilation in children with neuromuscular diseasesIn: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 6
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Muscle-eye-brain disease caused by mutations in a glycosyltransferase, POMGnT, and selective deficiency of alpha-dystroglycanIn: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 35
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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 Jg. 199 (2002) Nr. Suppl. 1, S. 105
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Mutational analysis and non-invasive diagnosis in McArdle's diseaseIn: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 752 - 752
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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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SEPN1 mutations cause classical multi-minicore disease : reappraising the nosology of early-onset myopathiesIn: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 720 - 720
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Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe diseaseIn: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 29
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Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe diseaseIn: European Journal of Human Genetics Jg. 10 (2002) Nr. Suppl. 1, S. 301
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Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe diseaseIn: Neuromuscular Disorders Jg. 12 (2002) Nr. 7-8, S. 761 - 761
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Skeletal muscle fiber damage in dystrophic mice detected by contrast agent-enhanced MRIIn: Journal of the Neurological Sciences Jg. 199 (2002) Nr. Suppl. 1, S. 49
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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 Jg. 199 (2002) Nr. Suppl. 1, S. 84
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Treatment of classical infantile Pompe Disease(CIPD) with recombinant human acid alpha Glucosidase(rhGAA) : Preliminary 6 month data from a phase 2 studyIn: The American Journal of Human Genetics Jg. 71 (2002) Nr. Suppl. 4, S. 582