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SoSe 2024
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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AAV gene therapy for Duchenne muscular dystrophy : The EMBARK phase 3 randomized trialIn: Nature Medicine , Jg. 31 2025 , Nr. 1 , S. 332 - 341DOI (Open Access)
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Giant axonal neuropathy (GAN) : cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohortIn: Journal of Neurology , Jg. 272 2025 , Nr. 1 , 63DOI (Open Access)
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Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy : Data of the unite-CNM studyIn: Journal of Neuromuscular Diseases 2025 , in press
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Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5In: Frontiers in Molecular Neuroscience , Jg. 18 2025 , 1548255DOI (Open Access)
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Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases : The Current Picture and a Look to the FutureIn: Biomolecules , Jg. 15 2025 , Nr. 1 , 130DOI (Open Access)
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5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2In: Journal of Neurology , Jg. 271 2024 , Nr. 5 , S. 2787 - 2797DOI (Open Access)
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A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic AtrophyIn: Journal of Neuromuscular Diseases , Jg. 11 2024 , Nr. 2 , S. 485 - 491DOI (Open Access)
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Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophyIn: Acta Neuropathologica , Jg. 147 2024 , Nr. 1 , 53DOI (Open Access)
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Clinical Effectiveness of Newborn Screening for Spinal Muscular AtrophyIn: JAMA Pediatrics , Jg. 178 2024 , Nr. 6 , S. 540 - 547
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Correction to Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS) : A multicentre, randomised, double-blind, placebo-controlled, phase 3 trialIn: The Lancet Neurology , Jg. 23 2024 , Nr. 8 , e12
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Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region : A population-based observational studyIn: The Lancet Regional Health - Europe , Jg. 47 2024 , 101092DOI (Open Access)
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Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpointIn: Scientific Reports , Jg. 14 2024 , Nr. 1 , 29681DOI (Open Access)
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Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated PhenotypesIn: Biomedicines , Jg. 12 2024 , Nr. 12 , 2738DOI (Open Access)
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Gene replacement therapy in spinal muscular atrophy: filling the data gapsIn: The Lancet Regional Health - Europe , Jg. 37 2024 , 100822DOI (Open Access)
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Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using ¹H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived BiofluidsIn: International Journal of Molecular Sciences (IJMS) , Jg. 25 2024 , Nr. 22 , 12123DOI (Open Access)
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Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn ScreeningIn: Journal of Neuromuscular Diseases , Jg. 11 2024 , Nr. 1 , S. 143 - 151DOI, Online Volltext (Open Access)
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Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial DiseaseIn: Journal of Neuromuscular Diseases , Jg. 11 2024 , Nr. 4 , S. 767 - 775DOI (Open Access)
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Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variantIn: Journal of Neuropathology & Experimental Neurology (JNEN) , Jg. 83 2024 , Nr. 11 , S. 979 - 983
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Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy : a prospective European multinational observational studyIn: The Lancet Regional Health - Europe , Jg. 39 2024 , 100862DOI, Online Volltext (Open Access)
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Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype : A Noonan syndrome case seriesIn: Journal of Neurology , Jg. 271 2024 , Nr. 3 , S. 1331 - 1341
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Myelin protein zero mutation-related hereditary neuropathies : Neuropathological insight from a new nerve biopsy cohortIn: Brain Pathology , Jg. 34 2024 , Nr. 1 , e13200DOI (Open Access)
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Neugeborenenscreening auf spinale Muskelatrophie : Was muss der Pädiater wissen?In: Monatsschrift Kinderheilkunde , Jg. 172 2024 , Nr. 7 , S. 595 - 600DOI (Open Access)
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Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated PhenotypesIn: Journal of Neuromuscular Diseases , Jg. 11 2024 , Nr. 3 , S. 625 - 645DOI (Open Access)
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Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkersIn: Journal of Cellular and Molecular Medicine , Jg. 28 2024 , Nr. 8 , e18122DOI (Open Access)
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Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS) : A multicentre, randomised, double-blind, placebo-controlled, phase 3 trialIn: The Lancet Neurology , Jg. 23 2024 , Nr. 4 , S. 393 - 403
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Skeletal muscle vulnerability in a child with Pitt-Hopkins syndromeIn: Skeletal Muscle , Jg. 14 2024 , Nr. 1 , 15DOI (Open Access)
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The myotubular and centronuclear myopathy patient registry : a multifunctional tool for translational researchIn: Neuromuscular Disorders , Jg. 35 2024 , S. 42 - 52DOI (Open Access)
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Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophyIn: Journal of Neurology , Jg. 271 2024 , Nr. 10 , S. 7000 - 7011DOI (Open Access)
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A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome FunctionIn: Molecular Neurobiology , Jg. 60 2023 , S. 2602 - 2618DOI (Open Access)
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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defectsIn: Brain: A Journal of Neurology , Jg. 146 2023 , Nr. 10 , S. 4200 - 4216DOI (Open Access)
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Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome FunctionIn: Molecular Neurobiology , Jg. 60 2023 , Nr. 7 , S. 4164 - 4164DOI (Open Access)
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Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophyIn: Brain: A Journal of Neurology , Jg. 146 2023 , Nr. 2 , S. 668 - 677DOI (Open Access)
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High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophyIn: Frontiers in Pediatrics , Jg. 11 2023 , 1259293DOI (Open Access)
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Improvements in Walking Distance during Nusinersen Treatment : A Prospective 3-year SMArtCARE Registry StudyIn: Journal of Neuromuscular Diseases , Jg. 10 2023 , Nr. 1 , S. 29 - 40DOI (Open Access)
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Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel VariantsIn: International Journal of Molecular Sciences (IJMS) , Jg. 24 2023 , Nr. 7 , 6808DOI (Open Access)
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Newbornscreening SMA : From Pilot Project to Nationwide Screening in GermanyIn: Journal of Neuromuscular Diseases , Jg. 10 2023 , Nr. 1 , S. 55 - 65DOI (Open Access)
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Patterns of cardiac involvement in different muscular dystrophies assessed by magnetic resonance imagingIn: Acta Radiologica , Jg. 64 2023 , Nr. 2 , S. 605 - 611
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Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1In: Journal of Neurology , Jg. 270 2023 , Nr. 6 , S. 3138 - 3158DOI (Open Access)
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Risk and course of COVID-19 in immunosuppressed patients with myasthenia gravisIn: Journal of Neurology , Jg. 270 2023 , Nr. 1 , S. 1 - 12DOI (Open Access)
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Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD) : A multicentre, randomised, double-blind, placebo-controlled, phase 3 trialIn: The Lancet Neurology , Jg. 22 2023 , Nr. 10 , S. 890 - 899
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Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophyIn: Acta Neuropathologica , Jg. 145 2023 , Nr. 5 , S. 611 - 635DOI (Open Access)
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Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic : ERN-NMD European SurveyIn: Journal of Neuromuscular Diseases , Jg. 10 2023 , Nr. 2 , S. 173 - 184DOI (Open Access)
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The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)In: Brain: A Journal of Neurology , Jg. 146 2023 , Nr. 10 , S. 4233 - 4246DOI (Open Access)
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The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1In: Brain Communications , Jg. 5 2023 , Nr. 1 , fcad017DOI (Open Access)
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„Essener Transitionsmodell“ bei neuromuskulären ErkrankungenIn: Der Nervenarzt , Jg. 94 2023 , Nr. 2 , S. 129 - 135DOI (Open Access)
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1. Lebenstag/m mit fehlender Spontanbewegung und respiratorischer Insuffizienz : Vorbereitung auf die Facharztprüfung ; Fall 43In: Monatsschrift Kinderheilkunde , Jg. 170 2022 , Nr. Supplement 2 , S. 60 - 64
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A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parentsIn: American Journal of Medical Genetics, Part A , Jg. 188 2022 , Nr. 1 , S. 283 - 291DOI (Open Access)
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ANO5-related muscle diseases : From clinics and genetics to pathology and research strategiesIn: Genes & Diseases , Jg. 9 2022 , Nr. 6 , S. 1506 - 1520DOI (Open Access)
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Endoplasmic reticulum-stress and unfolded protein response-activation in immune-mediated necrotizing myopathyIn: Brain Pathology , Jg. 32 2022 , Nr. 6 , e13084DOI (Open Access)
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Erratum zu: Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec. : Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ)In: Monatsschrift Kinderheilkunde 2022 , in pressDOI (Open Access)
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Essen transition model for neuromuscular diseasesIn: Neurological Research and Practice , Jg. 4 2022 , Nr. 1 , 41DOI (Open Access)
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Genetisch basierte Therapien bei spinaler MuskelatrophieIn: Der Nervenarzt , Jg. 93 2022 , Nr. 6 , S. 549 - 556
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Genomik und Proteomik in der Erforschung neuromuskulärer ErkrankungenIn: Der Nervenarzt , Jg. 93 2022 , Nr. 2 , S. 114 - 121
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Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvementIn: The Journal of Pathology , Jg. 256 2022 , Nr. 1 , S. 93 - 107DOI (Open Access)
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Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth diseaseIn: Human Mutation , Jg. 43 2022 , Nr. 4 , S. 477 - 486DOI (Open Access)
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Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment : A prospective 3-years SMArtCARE registry studyIn: Orphanet Journal of Rare Diseases , Jg. 17 2022 , Nr. 1 , 384DOI (Open Access)
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Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initiallyIn: European Journal of Paediatric Neurology , Jg. 41 2022 , S. 27 - 35
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NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and miceIn: Brain: A Journal of Neurology , Jg. 145 2022 , Nr. 11 , S. 3999 - 4015DOI (Open Access)
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Neugeborenenscreeningprogramm für die spinale MuskelatrophieIn: Der Nervenarzt , Jg. 93 2022 , Nr. 2 , S. 135 - 141
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Neuromuscular Features in XL-MTM Carriers : A Cross-sectional Study in an Unselected CohortIn: Neurology , Jg. 99 2022 , Nr. 20 , S. E2223 - E2233
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Newborn Screening for SMA : Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?In: Journal of Neuromuscular Diseases , Jg. 9 2022 , Nr. 5 , S. 597 - 605
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Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspectsIn: Orphanet Journal of Rare Diseases , Jg. 17 2022 , Nr. 1 , 29DOI, Online Volltext (Open Access)
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Parental Burden and Quality of Life in 5q-SMA diagnosed by Newborn ScreeningIn: Children , Jg. 9 2022 , Nr. 12 , 1829DOI (Open Access)
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Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)In: Molecular Genetics and Metabolism , Jg. 136 2022 , Nr. 3 , S. 226 - 237
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Spinal Muscular Atrophy : Is Newborn Screening Too Late for Children with Two SMN2 Copies?In: Journal of Neuromuscular Diseases , Jg. 9 2022 , Nr. 3 , S. 389 - 396DOI (Open Access)
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Arzneimittel für neuartige Therapien : Kurzfassung der Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ)In: Monatsschrift Kinderheilkunde , Jg. 169 2021 , Nr. 1 , S. 57 - 59DOI (Open Access)
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Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen : Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ)In: Monatsschrift Kinderheilkunde , Jg. 169 2021 , Nr. 1 , S. 18 - 28DOI (Open Access)
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Bi-allelic truncating mutations in VWA1 cause neuromyopathyIn: Brain: A Journal of Neurology , Jg. 144 2021 , Nr. 2 , S. 574 - 583DOI (Open Access)
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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisIn: Nature Medicine , Jg. 27 2021 , Nr. 7 , S. 1197 - 1204DOI (Open Access)
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Clinical course, myopathology and challenge of therapeutic intervention in pediatric patients with autoimmune-mediated necrotizing myopathyIn: Children , Jg. 8 2021 , Nr. 9 , 721DOI, Online Volltext (Open Access)
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Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow up ExperienceIn: Journal of Neuromuscular Diseases , Jg. 8 2021 , Nr. 1 , S. 79 - 90DOI (Open Access)
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Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec : Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ)In: Monatsschrift Kinderheilkunde , Jg. 169 2021 , Nr. 8 , S. 738 - 747DOI (Open Access)
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Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) PatientsIn: Journal of Neuromuscular Diseases , Jg. 8 2021 , Nr. 4 , S. 603 - 619DOI (Open Access)
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Erratum zu : Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen: Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ) (Monatsschrift Kinderheilkunde, (2020), 10.1007/s00112-020-01056-x) (Monatsschrift Kinderheilkunde, (2020), 10.1007/s00112-020-01068-7)In: Monatsschrift Kinderheilkunde , Jg. 169 2021 , Nr. 1 , S. 60 - 61DOI (Open Access)
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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)In: European Journal of Human Genetics , Jg. 29 2021 , Nr. 9 , S. 1348 - 1353DOI (Open Access)
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Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxaIn: Journal of Inherited Metabolic Disease (JIMD) , Jg. 44 2021 , Nr. 4 , S. 972 - 986DOI (Open Access)
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Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease processIn: Molecular Genetics & Genomic Medicine , Jg. 9 2021 , Nr. 12 , e1767DOI, Online Volltext (Open Access)
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Expertenempfehlung : Therapie nichtgehfähiger Patienten mit Muskeldystrophie DuchenneIn: Der Nervenarzt , Jg. 92 2021 , Nr. 4 , S. 359 - 366DOI (Open Access)
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Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy : results of a prospective diagnostic studyIn: Neuromuscular Disorders , Jg. 31 2021 , Nr. 1 , S. 35 - 43
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Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophagesIn: Neuropathology and Applied Neurobiology , Jg. 47 2021 , Nr. 6 , S. 856 - 866DOI (Open Access)
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Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation : A clinical longitudinal studyIn: American Journal of Medical Genetics, Part A , Jg. 185 2021 , Nr. 4 , S. 1216 - 1221DOI (Open Access)
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International retrospective natural history study of LMNA-related congenital muscular dystrophyIn: Brain Communications , Jg. 3 2021 , Nr. 3 , 75DOI (Open Access)
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Lessons Learned from Discontinued Clinical Developments in Duchenne Muscular DystrophyIn: Frontiers in Pharmacology , Jg. 12 2021 , 735912DOI (Open Access)
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Muscular and molecular pathology associated with SPATA5 deficiency in a child with EHLMRSIn: International Journal of Molecular Sciences (IJMS) , Jg. 22 2021 , Nr. 15 , 7835DOI, Online Volltext (Open Access)
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Natural history of Type 2 and 3 spinal muscular atrophy : 2-year NatHis-SMA studyIn: Annals of Clinical and Translational Neurology , Jg. 8 2021 , Nr. 2 , S. 359 - 373DOI (Open Access)
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Newborn screening for spinal muscular atrophy in Germany : Clinical results after 2 yearsIn: Orphanet Journal of Rare Diseases , Jg. 16 2021 , Nr. 1 , S. 153DOI (Open Access)
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One test for all : Whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndromeIn: Orphanet Journal of Rare Diseases , Jg. 16 2021 , Nr. 1 , 42DOI (Open Access)
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Phenotypical and myopathological consequences of compound heterozygous missense and nonsense variants in slc18a3In: Cells , Jg. 10 2021 , Nr. 12 , 3481DOI, Online Volltext (Open Access)
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Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseasesIn: Orphanet Journal of Rare Diseases , Jg. 16 2021 , Nr. 1 , S. 73DOI (Open Access)
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Risdiplam : Aus ExpertensichtIn: Psychopharmakotherapie , Jg. 28 2021 , Nr. 5 , S. 205 - 206(Open Access)
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Risdiplam : Aus ExpertensichtIn: Arzneimitteltherapie (AMT) , Jg. 39 2021 , Nr. 9 , S. 293 - 294
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SMA Clinical Data : Description of cardiac involvement in 5q SMA pediatric patientsIn: Neuromuscular Disorders , Jg. 31 2021 , Nr. Suppl. 1 , S. S125DOI (Open Access)
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Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers : An International Questionnaire StudyIn: Neurology , Jg. 97 2021 , Nr. 5 , S. e501 - e512DOI (Open Access)
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¹H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophyIn: Orphanet Journal of Rare Diseases , Jg. 16 2021 , 441DOI (Open Access)
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250th ENMC International Workshop : Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands ; Workshop ReportIn: Neuromuscular Disorders , Jg. 30 2020 , Nr. 10 , S. 866 - 875DOI (Open Access)
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A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanismIn: eBioMedicine , Jg. 51 2020 , 102587DOI (Open Access)
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First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNCIn: Human Mutation , Jg. 41 2020 , Nr. 9 , S. 1600 - 1614DOI (Open Access)
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Further evidence for POMK as candidate gene for WWS with meningoencephaloceleIn: Orphanet Journal of Rare Diseases , Jg. 15 2020 , 242DOI (Open Access)
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Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101 : Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V.In: Der Nervenarzt , Jg. 91 2020 , Nr. 6 , S. 518 - 529DOI (Open Access)
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Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?In: Journal of Neuromuscular Diseases , Jg. 7 2020 , Nr. 2 , S. 109 - 117DOI (Open Access)
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Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes : A Retrospective Single Centre Cohort StudyIn: Frontiers in Human Neuroscience , Jg. 14 2020 , 560860DOI, Online Volltext (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 - 16DOI (Open Access)
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Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophyIn: Journal of Comparative Effectiveness Research , Jg. 9 2020 , Nr. 14 , S. 973 - 984DOI (Open Access)
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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiencyIn: The EMBO Journal , Jg. 39 2020 , Nr. 23 , S. e105364DOI (Open Access)
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Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter : Große Hoffnungen und unbekannte RisikenIn: Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz , Jg. 63 2020 , Nr. 7 , S. 891 - 897DOI (Open Access)
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathyIn: Brain: A Journal of Neurology , Jg. 143 2020 , Nr. 9 , S. 2696 - 2708DOI (Open Access)
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Nicht-dystrophe Myotonie und periodische ParalysenIn: Pädiatrische Praxis , Jg. 93 2020 , Nr. 2 , S. 237 - 240
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weaknessIn: Genetics in Medicine , Jg. 22 2020 , Nr. 9 , S. 1478 - 1488DOI (Open Access)
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Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy : A patients’ perspectiveIn: Neuromuscular Disorders , Jg. 30 2020 , Nr. 12 , S. 975 - 985
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The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy : A case seriesIn: Neurology , Jg. 95 2020 , Nr. 11 , S. e1512 - e1527DOI (Open Access)
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Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1In: Journal of Neuromuscular Diseases , Jg. 7 2020 , Nr. 1 , S. 41 - 46
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Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec : Stellungnahme der Gesellschaft für NeuropädiatrieIn: Monatsschrift Kinderheilkunde 2020DOI (Open Access)
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Characteristic clinical and ultrastructural findings in nesprinopathiesIn: European Journal of Paediatric Neurology , Jg. 23 2019 , Nr. 2 , S. 254 - 261
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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disordersIn: Orphanet Journal of Rare Diseases , Jg. 14 2019 , Nr. 1DOI (Open Access)
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Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy : a randomized, double-blind, placebo-controlled trialIn: Orphanet Journal of Rare Diseases , Jg. 14 2019 , Nr. 1 , S. 105DOI (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
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Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.In: Frontiers in Neurology , Jg. 10 2019 , S. 470DOI (Open Access)
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Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophyIn: Neuromuscular Disorders , Jg. 29 2019 , Nr. 7 , S. 487 - 496
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One Year of Newborn Screening for SMA - Results of a German Pilot ProjectIn: Journal of Neuromuscular Diseases , Jg. 6 2019 , Nr. 4 , S. 503 - 515DOI (Open Access)
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SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophyIn: Orphanet Journal of Rare Diseases , Jg. 14 2019 , Nr. 1 , S. 18DOI (Open Access)
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SOD1 deficiency : a novel syndrome distinct from amyotrophic lateral sclerosisIn: Brain: A Journal of Neurology , Jg. 142 2019 , Nr. 8 , S. 2230 - 2237DOI (Open Access)
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X-linked myotubular myopathy: A prospective international natural history studyIn: Neurology , Jg. 92 2019 , Nr. 16 , S. E1852 - E1867DOI (Open Access)
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A checklist for clinical trials in rare disease : Obstacles and anticipatory actions-lessons learned from the FOR-DMD trialIn: Trials , Jg. 19 2018 , Nr. 1 , S. 291DOI (Open Access)
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Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and AustriaIn: Pediatric Rheumatology , Jg. 16 2018 , Nr. 1 , S. 40DOI (Open Access)
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Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes : A randomized controlled trialIn: Seizure , Jg. 56 2018 , S. 115 - 120DOI (Open Access)
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Evaluation of children with SMA Type 1 under treatment with nusinersen within the expanded access program in GermanyIn: Journal of Neuromuscular Diseases , Jg. 5 2018 , Nr. 2 , S. 135 - 143DOI (Open Access)
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In Memoriam : Professor Hermann DooseIn: Neuropediatrics , Jg. 49 2018 , Nr. 4 , S. 299 - 300DOI (Open Access)
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Isolated PREPL deficiency associated with congenital myasthenic syndrome-22In: Klinische Pädiatrie , Jg. 230 2018 , Nr. 5 , S. 281 - 283
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Mentoring in a medical faculty : A chance for organisational learningIn: International Journal of Learning and Change , Jg. 10 2018 , Nr. 3 , S. 198 - 219
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Metabolic Myopathies II : P.355Glycogen storage disease type IV: a wide clinical range of neuromuscular phenotypesIn: Neuromuscular Disorders , Jg. 28 2018 , Nr. SUPPL. 2 , S. S137
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Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy : Baseline data NatHis-SMA studyIn: PLoS ONE , Jg. 13 2018 , Nr. 7 , S. e0201004DOI (Open Access)
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SMA Therapies II and Biomarkers : P.261Safety and efficacy of the oral splice modulator branaplam in type 1 spinal muscular atrophyIn: Neuromuscular Disorders , Jg. 28 2018 , Nr. SUPPL. 2 , S. S110
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The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunityIn: Autophagy , Jg. 14 2018 , Nr. 1 , S. 22 - 37DOI (Open Access)
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Transition von der Neuropädiatrie zur Neurologie bei neuromuskulären ErkrankungenIn: Der Nervenarzt , Jg. 89 2018 , Nr. 10 , S. 1123 - 1130
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A rare cause of congenital ptosis with external ophthalmoplegia : case report and differential diagnosisIn: Neuromuscular Disorders , Jg. 27 2017 , Nr. Suppl. 2 , S. S243
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Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3In: Neuromuscular Disorders , Jg. 27 2017 , Nr. SUPPL. 2 , S. S224 - S225
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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 - 1498DOI (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 - 314DOI (Open Access)
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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localizationIn: Brain: A Journal of Neurology , Jg. 140 2017 , Nr. 11 , S. 2838 - 2850
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Correction : Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-IIIIn: PLoS ONE , Jg. 12 2017 , Nr. 4 , S. e0175611DOI (Open Access)
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Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophyIn: Neuromuscular Disorders , Jg. 27 2017 , Nr. 7 , S. 631 - 634
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Developing standardized corticosteroid treatment for Duchenne muscular dystrophyIn: Contemporary Clinical Trials , Jg. 58 2017 , S. 34 - 39DOI (Open Access)
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Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-IIIIn: PLoS ONE , Jg. 12 2017 , Nr. 3 , S. e0173144DOI (Open Access)
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Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history studyIn: Neuromuscular Disorders , Jg. 27 2017 , Nr. Suppl. 2 , S. S170
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Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophyIn: Neuromuscular Disorders , Jg. 27 2017 , Nr. Suppl. 2 , S. S134
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New myotubular myopathy classificationIn: Neuromuscular Disorders , Jg. 27 2017 , Nr. Suppl. 2 , S. S169
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Outcome after Robotic-Assisted Thymectomy in Children and Adolescents with Acetylcholine Receptor Antibody-Positive Juvenile Myasthenia GravisIn: Neuropediatrics , Jg. 48 2017 , Nr. 4 , S. 315 - 322
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Perinataler Schlaganfall und Sinusvenenthrombose : Klinik, Diagnostik und therapeutische AnsätzeIn: Monatsschrift Kinderheilkunde , Jg. 165 2017 , Nr. 7 , S. 596 - 604
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Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivoIn: Neuromuscular Disorders , Jg. 27 2017 , Nr. SUPPL. 2 , S. S220 - S221
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Safety and efficacy findings in the first-in-human trial (FIH) of the oral splice modulator branaplam in type 1 spinal muscular atrophy (SMA) : interim resultsIn: Neuromuscular Disorders , Jg. 27 2017 , Nr. Suppl. 2 , S. S207 - S208
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Spinale Muskelatrophie : Zeit für das Neugeborenenscreening?In: Der Nervenarzt , Jg. 88 2017 , Nr. 12 , S. 1358 - 1366
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Therapie von Erkrankungen der neuromuskulären Endplatte im Kindes- und JugendalterIn: Nervenheilkunde , Jg. 36 2017 , Nr. 1-2 , S. 44 - 47
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Abstracts of the 42nd Annual Meeting of the Society for NeuropediatricsIn: Neuropediatrics , Jg. 47 2016 , Nr. S 01 , S. e1
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Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy - NatHis-SMAIn: Neuromuscular Disorders , Jg. 26 2016 , Nr. Suppl. 2 , S. 103
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Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history studyIn: Neuromuscular Disorders , Jg. 26 2016 , Nr. Suppl. 2 , S. S116 - S117
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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationIn: The American Journal of Human Genetics , Jg. 98 2016 , Nr. 2 , S. 310 - 321DOI (Open Access)
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Congenital and childhood-onset myotonic dystrophy : importance of long-term data in natural historyIn: Developmental Medicine & Child Neurology , Jg. 58 2016 , Nr. 7 , S. 652
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Diagnostic algorithms in Charcot-Marie-Tooth neuropathie : Experiences from a German genetic laboratory on the basis of 1206 index patientsIn: Clinical Genetics , Jg. 89 2016 , Nr. 1 , S. 34 - 43
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Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositisIn: Acta Neuropathologica Communications , Jg. 4 2016 , Nr. 1 , S. 45DOI (Open Access)
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EPG5-related Vici syndrome : a paradigm of neurodevelopmental disorders with defective autophagyIn: Brain: A Journal of Neurology , Jg. 139 2016 , Nr. 3 , S. 765 - 781DOI (Open Access)
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Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophyIn: Neuromuscular Disorders , Jg. 26 2016 , Nr. Suppl. 2 , S. 102
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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophyIn: Neuromuscular Disorders , Jg. 26 2016 , Nr. Suppl. 2 , S. S156
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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophyIn: Neuromuscular Disorders , Jg. 26 2016 , Nr. 8 , S. 473 - 480DOI (Open Access)
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Invitation and a Warm Welcome to the 42nd Annual Meeting of the Society for NeuropediatricsIn: Neuropediatrics , Jg. 47 2016 , Nr. 2 , S. 69
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Kleinkind mit sich früh entwickelnder Neuropathie, Klumpfüßen und im Verlauf zunehmender Schwäche der AtemmuskulaturIn: Monatsschrift Kinderheilkunde , Jg. 164 2016 , Nr. 2 , S. 86 - 88
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LGMD2I elicits a specific skeletal muscle immune responseIn: Neuromuscular Disorders , Jg. 26 2016 , Nr. Suppl. 2 , S. 92
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Mitochondrial dysfunction in liver failure requiring transplantationIn: Journal of Inherited Metabolic Disease (JIMD) , Jg. 39 2016 , Nr. 3 , S. 427 - 436DOI (Open Access)
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Nesprinopathies : A wide clinical range of phenotypes and characteristic ultrastructural findingsIn: Neuromuscular Disorders , Jg. 26 2016 , Nr. Suppl. 2 , S. S139 - S139
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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 - S157DOI (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. 195
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Cardiac pathologies in female carriers of Duchenne muscular dystrophy assessed by cardiovascular magnetic resonance imagingIn: European Radiology , Jg. 25 2015 , Nr. 10 , S. 3066 - 3072
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Cerebellar-Dependent Associative Learning Is Preserved in Duchenne Muscular Dystrophy : A Study Using Delay Eyeblink ConditioningIn: PLoS ONE , Jg. 10 2015 , Nr. 5 , S. e0126528DOI (Open Access)
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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 - 1757
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Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial diseaseIn: The International Journal of Biochemistry & Cell Biology , Jg. 63 2015 , S. 32 - 40
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Isolierte Ataxie als Erstsymptom eines thorakalen Neuroblastoms : Das Opsoklonus-Myoklonus- SyndromIn: Chirurgische Praxis , Jg. 80 2015 , Nr. 2 , S. 283 - 291
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Low ovarian reserve in girls with autosomal-recessive proximal spinal muscular atrophies type I-IIIIn: Neuromuscular Disorders , Jg. 25 2015 , Nr. Suppl. 2 , S. 196
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Mechanical insufflation/exsufflation improves vital capacity in neuromuscular disordersIn: Chronic Respiratory Disease , Jg. 12 2015 , Nr. 1 , S. 31 - 35DOI (Open Access)
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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. 305
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Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathyIn: Neurology , Jg. 84 2015 , Nr. 5 , S. 523 - 531
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Roles of hypoxia and innate immune mechanisms in juvenile and adult dermatomyositisIn: Neuromuscular Disorders , Jg. 25 2015 , Nr. Suppl. 2 , S. 246
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Sedation monitoring during open muscle biopsy in children by Comfort Score and Bispectral Index - a prospective analysisIn: Pediatric Anesthesia , Jg. 25 2015 , Nr. 3 , S. 265 - 271
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Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylationIn: Frontiers in Genetics , Jg. 6 2015 , S. 21DOI (Open Access)
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The L-arginine/NO pathway and homoarginine are altered in Duchenne muscular dystrophy and improved by glucocorticoidsIn: Amino Acids , Jg. 47 2015 , Nr. 9 , S. 1853 - 1863
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The use of a hand-held device (ASMA-1) for home-based monitoring of respiratory function changes in pediatric and adolescent patients with Duchenne muscular dystrophyIn: Neuromuscular Disorders , Jg. 25 2015 , Nr. Suppl. 2 , S. 201
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Administration of Gemcitabine for Metastatic Adenocarcinoma during Pregnancy : A Case Report and Review of the LiteratureIn: American Journal of Perinatology Reports , Jg. 4 2014 , Nr. 1 , S. 017 - 022DOI (Open Access)
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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 - 806
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Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie-Tooth disease type 2EIn: Clinical Neuropathology , Jg. 33 2014 , Nr. 5 , S. 335 - 343
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Evaluation of cardiologic status in carriers of Duchenne Muscular DystrophyIn: Neuromuscular Disorders , Jg. 24 2014 , Nr. 9-10 , S. 859 - 860
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Growth and endocrinological evaluation in spinal muscular atrophies – A single centre study of 43 pediatric patientsIn: Neuromuscular Disorders , Jg. 24 2014 , Nr. 9-10 , S. 887
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Growth and psychomotor development of patients with Duchenne muscular dystrophyIn: European Journal of Paediatric Neurology , Jg. 18 2014 , Nr. 1 , S. 38 - 44
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Isolierte Ataxie als Erstsymptom eines thorakalen Neuroblastoms : Das Opsoklonus-Myoklonus-SyndromIn: Pädiatrische Praxis , Jg. 82 2014 , Nr. 3 , S. 407 - 415
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Juvenile myasthenia gravis : Recommendations for diagnostic approaches and treatmentIn: Neuropediatrics , Jg. 45 2014 , Nr. 2 , S. 75 - 83
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Mitteilungen aus der Gesellschaft für NeuropädiatrieIn: Neuropediatrics , Jg. 45 2014 , Nr. 2 , S. 132 - 132
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Results of a phase II study to assess safety and efficacy of olesoxime (TRO19622) in 3-25 years old spinal muscular atrophy patientsIn: Neuromuscular Disorders , Jg. 24 2014 , Nr. 9-10 , S. 920 - 921
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Somatropin treatment of spinal muscular atrophy : A placebo-controlled, double-blind crossover pilot studyIn: Neuromuscular Disorders , Jg. 24 2014 , Nr. 2 , S. 134 - 142
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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesIn: JAMA: Journal of the American Medical Association , Jg. 312 2014 , Nr. 1 , S. 68 - 77DOI (Open Access)
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Xp21/A Translocation : A Rarely Considered Genetic Cause for Manifesting Carriers of Duchenne Muscular DystrophyIn: Neuropediatrics , Jg. 45 2014 , Nr. 5 , S. 333 - 335
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Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiencyIn: Human Molecular Genetics , Jg. 22 2013 , Nr. 22 , S. 4602 - 4615DOI (Open Access)
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Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear MyopathyIn: PLoS Genetics , Jg. 9 2013 , Nr. 6 , S. 1003430DOI (Open Access)
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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 - 1958
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Mitteilungen aus der Gesellschaft für NeuropädiatrieIn: Neuropediatrics , Jg. 44 2013 , Nr. 4 , S. 179
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Morphological spectrum and clinical features of myopathies with tubular aggregatesIn: Histology and Histopathology , Jg. 28 2013 , Nr. 8 , S. 1041 - 1054
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Myasthenia Gravis bei Kindern und Jugendlichen : Klinischer Verlauf und TherapieIn: Pädiatrische Praxis , Jg. 80 2013 , Nr. 3 , S. 437 - 446
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NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh SyndromeIn: JIMD Reports , Jg. 10 2013 , S. 17 - 22
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Pediatric herpes simplex virus encephalitis : A retrospective multicenter experienceIn: Journal of Child Neurology , Jg. 28 2013 , Nr. 3 , S. 321 - 331
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Self-reported quality of life and depressive symptoms in children, adolescents, and adults with duchenne muscular dystrophy : A cross-sectional survey studyIn: Neuropediatrics , Jg. 44 2013 , Nr. 5 , S. 257 - 264
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A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndromeIn: Journal of Neurology , Jg. 259 2012 , Nr. 3 , S. 474 - 481
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Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesIn: Human Mutation , Jg. 33 2012 , Nr. 6 , S. 981 - 988
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Congenital Myasthenic Syndromes : Current Diagnostic and Therapeutic ApproachesIn: Neuropediatrics , Jg. 43 2012 , Nr. 4 , S. 184 - 193
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Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice : A study of 680 patientsIn: Human Mutation , Jg. 33 2012 , Nr. 10 , S. 1474 - 1484
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Diagnose und Therapie der Muskeldystrophie DuchenneIn: Monatsschrift Kinderheilkunde , Jg. 160 2012 , Nr. 2 , S. 177 - 186
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Erratum: Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathiesIn: Human Mutation , Jg. 33 2012 , Nr. 8 , S. 1310
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The mentoring of women for medical career developmentIn: International Journal of Mentoring and Coaching in Education , Jg. 1 2012 , Nr. 2 , S. 155 - 168
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A retrospective study of the treatment of slow channel congenital myasthenic syndromesIn: Journal of Neurology , Jg. 258 1 2011 , S. 14 - 15
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Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutationsIn: Journal of Inherited Metabolic Disease (JIMD) , Jg. 34 2011 , Nr. 1 , S. 197 - 201
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Glucocorticoid therapy in a non-ambulant six year old boy with Duchenne muscular dystrophyIn: Neuromuscular Disorders , Jg. 21 2011 , Nr. 9-10 , S. 644
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Health-related quality of life in patients with Duchenne Muscular DystrophyIn: Neuromuscular Disorders , Jg. 21 2011 , Nr. 9-10 , S. 652
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Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy : Results from a 12 month, double-blind, randomized placebo-controlled trialIn: Neuromuscular Disorders , Jg. 21 2011 , Nr. 6 , S. 396 - 405
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Kongenitale myasthene SyndromeIn: Nervenheilkunde , Jg. 30 2011 , Nr. 10 , S. 797 - 804
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Migränevarianten und ungewöhnliche Manifestationen der Migräne im KindesalterIn: Der Schmerz , Jg. 25 2011 , Nr. 2 , S. 148 - 156
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Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene MutationsIn: Archives of Neurology , Jg. 68 2011 , Nr. 9 , S. 1171 - 1179
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Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyIn: Brain: A Journal of Neurology , Jg. 134 2011 , Nr. 1 , S. 183 - 195
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Autosomal-dominante akute nekrotisierende EnzephalopathieIn: Monatsschrift Kinderheilkunde , Jg. 158 2010 , Nr. 1 , S. 54 - 56
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Consensus statement on standard of care for congenital muscular dystrophiesIn: Journal of Child Neurology , Jg. 25 2010 , Nr. 12 , S. 1559 - 1581
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Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutationsIn: European Journal of Paediatric Neurology , Jg. 14 2010 , Nr. 4 , S. 326 - 333
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Meningitis durch Streptococcus equi
36. Jahrestagung der Gesellschaft für Neonatologie und Pädiatrische Intensivmedizin und 18. Jahrestagung der Gesellschaft für Pädiatrische Infektiologie gemeinsam mit Société Luxembourgoise de Pédiatrie Saarbrücken, 17.–19. Juni 2010,In: Klinische Pädiatrie , Jg. 222 2010 , Nr. Suppl. 1 , S. S51 -
Treatment of Duchenne muscular dystrophy with ciclosporin A : a randomised, double-blind, placebo-controlled multicentre trialIn: The Lancet Neurology , Jg. 9 2010 , Nr. 11 , S. 1053 - 1059
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Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutationsIn: Neuromuscular Disorders , Jg. 19 2009 , Nr. 12 , S. 828 - 832
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Glucocorticoids influence therapeutic efficacy of idebenone (Catena (R)) on peak expiratory flow in patients with Duchenne muscular dystrophy (DMD)In: Neuromuscular Disorders , Jg. 19 2009 , Nr. 8-9 , S. 610 - 610
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Kongenitale Strukturmyopathien : Eine ÜbersichtIn: Medizinische Genetik , Jg. 21 2009 , Nr. 3 , S. 316 - 321
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Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromesIn: Brain: A Journal of Neurology , Jg. 131 2008 , Nr. 3 , S. 747 - 759
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Myopathien im Kindesalter - Evaluation mittels Kernspintomografie der MuskulaturIn: Klinische Pädiatrie , Jg. 220 2008 , Nr. 1 , S. 37 - 46
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Phenotypic variability in siblings with calpainopathy (LGMD2A)In: Acta Myologica , Jg. 27 2008 , Nr. 2 , S. 54 - 58
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The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathyIn: European Journal of Paediatric Neurology , Jg. 12 2008 , Nr. 3 , S. 224 - 230
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Therapeutic strategies in congenital myasthenic syndromesIn: Neurotherapeutics , Jg. 5 2008 , Nr. 4 , S. 542 - 547DOI (Open Access)
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Location and type of mutation in the LIS1 gene do not predict phenotypic severityIn: Neurology , Jg. 69 2007 , Nr. 5 , S. 442 - 447
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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromesIn: Brain: A Journal of Neurology , Jg. 130 2007 , Nr. 6 , S. 1497 - 1506DOI (Open Access)
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Wege zur Therapie neuromuskulärer Erkrankungen in der Neuropädiatrie und NeurologieIn: Der Nervenarzt , Jg. 94 2023 , Nr. 6 , S. 471 - 472DOI (Open Access)
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Neuropädiatrie trifft Neurologie : Gemeinsamkeiten – Unterschiede?In: Der Nervenarzt , Jg. 93 2022 , Nr. 2 , S. 111 - 113DOI (Open Access)
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Editorial: Spinal Muscular Atrophy : Evolutions and Revolutions of Modern TherapyIn: Frontiers in Neurology , Jg. 11 2020 , 783DOI (Open Access)
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Appropriate use of next generation sequencing facilities for identifying new genetic causes of fetal akinesia deformation sequence (FADS)In: European Journal of Paediatric Neurology , Jg. 21 2017 , Nr. 5 , S. 697 - 698
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A Homozygous NDUfs6 Variant Associated with Neuropathy, Optic Atrophy and Protein Changes
PNS Annual Meeting 2024; 22‐25 June 2024, Montreal, Canada,In: Journal of the Peripheral Nervous System , Jg. 29 2024 , Nr. Suppl. 3 , S. S.22 -
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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
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Molecular pathology of human PPP1R21 deficiencyIn: Neuromuscular Disorders , Jg. 32 2022 , Nr. Suppl. 1 , S. 76DOI (Open Access)
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NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
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Combined protein and transcript studies identify periostin as a DMD tissue and blood marker protein
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Description of muscular involvement in a NEFL-caused neurological disease
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Fibroblasts as a suitable biomaterial to study the etiology of neuromuscular diseases
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SMArtCARE : Real-world-data collection of patients with spinal muscular atrophy
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Fetal acetylcholine receptor inactivation due to maternal myasthenia gravis : an underrecognised, devastating but potentially preventable and treatable disorderIn: Archives of Disease in Childhood , Jg. 104 2019 , Nr. Suppl. 3 , S. A124DOI (Open Access)
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First clinical and neuropathological description of a myofibrillar myopathy with congenital onset based on a homozygous recessive FLNC mutationIn: Neuromuscular Disorders , Jg. 29 2019 , Nr. Supplement 1 , S. S64 - S65
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P.113 Phenotype, genetics and natural history in 131 SEPN1-related myopathy patients: towards clinical trial readinessIn: Neuromuscular Disorders , Jg. 29 2019 , Nr. Supplement 1 , S. S81 - S82
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P.200 Feasibility and baseline values of continuous movement measurement in patients with centronuclear myopathy by using ActiMyo®In: Neuromuscular Disorders , Jg. 29 2019 , Nr. Supplement 1 , S. S107
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P.211 Pilot study of genetic newborn screening for spinal muscular atrophy in Germany : clinical results after more than a yearIn: Neuromuscular Disorders , Jg. 29 2019 , Nr. Supplement 1 , S. S128
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P.217 Patterns of disease progression in patients with spinal muscular atrophy type 3 using the motor function measureIn: Neuromuscular Disorders , Jg. 29 2019 , Nr. Supplement 1 , S. S130
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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. S144
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P.275 Determination of protein markers in skeletal muscle of SMA type 3 patientsIn: Neuromuscular Disorders , Jg. 29 2019 , Nr. Supplement 1 , S. S147
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P.379 Fetal Acetylcholine Receptor Inactivation Syndrome (FARIS) : A potentially treatable autoimmune disorder mimicking a wide range of genetic neuromuscular conditionsIn: Neuromuscular Disorders , Jg. 29 2019 , Nr. Supplement 1 , S. S192
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P.392 SMArtCARE - Real-world-data collection of patients with spinal muscular atrophyIn: Neuromuscular Disorders , Jg. 29 2019 , Nr. Supplement 1 , S. S196
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SMA Clinical Data, Outcome Measures and Registries : P.88Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3In: Neuromuscular Disorders , Jg. 28 2018 , Nr. Suppl. 2 , S. S56
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Myasthenia gravis in young children and adolescents : Clinical symptoms and treatment optionsIn: Neuromuscular Disorders , Jg. 22 2012 , S. 856
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Myasthenic symptoms : From initial presentation to diagnosisIn: Neuromuscular Disorders , Jg. 22 2012 , Nr. 9-10 , S. 856
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Percent predicted forced vital capacity is a viable outcome measure in Laminin alpha 2 – Deficient congenital muscular dystrophyIn: Neuromuscular Disorders , Jg. 22 2012 , Nr. 9-10 , S. 893 - 894
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Isolated CD59 deficiency mimicking paroxysmal nocturnal hemoglobinuria (PNH) - flow cytometric detection and genetic characterizationIn: Onkologie , Jg. 33 2010 , Nr. Suppl. 6 , S. 112 - 113
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Idebenone Improves Peak Systolic Strain in Children With Duchenne Muscular Dystrophy With Preserved Ejection Fraction : Results of a 12 Month Double-blind, Randomized, Controlled TrialIn: Circulation , Jg. 120 2009 , Nr. 18, Suppl. 2 , S. 602
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Clinical and molecular genetic findings in 22 COLQ-mutant CMS patientsIn: Neurology , Jg. 70 2008 , Nr. Suppl. 11 , S. A426 - A427
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Double-blind randomized controlled trial of SNT.MC17/idebenone in Duchenne muscular dystrophyIn: Neurology , Jg. 70 2008 , Nr. 11, Suppl. , S. A79
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Phenotypical spectrum of congenital myasthenic syndrome caused by mutations in COLQ geneIn: Journal of Neurology , Jg. 255 2008 , Nr. Suppl. 2 , S. P743
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SNT-MC17/idebenone in Duchenne muscular dystrophy : long-term blinded controlled preclinical study in the mdx mouse followed by a 12 month double-blind randomized controlled trial in humansIn: Neuromuscular Disorders , Jg. 18 2008 , Nr. 9-10 , S. 832 - 832
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Clinical variability in siblings with calpainopathy (LGMD2A)In: Neuromuscular Disorders , Jg. 17 2007 , Nr. 9-10 , S. 791 - 791
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Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutationsIn: Neuromuscular Disorders , Jg. 17 2007 , Nr. 9-10 , S. 818
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Phenotype and long-term follow-up in juvenile patients with selenoprotein N-related myopathy (SEPN1-RM)In: Neuromuscular Disorders , Jg. 17 2007 , Nr. 9-10 , S. 846 - 846
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Phenotypical spectrum of DOK-7 mutations in congenital myasthenic syndromes (CMS)In: Neurology , Jg. 68 2007 , Nr. 12, Suppl. 1 , S. A299
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The spectrum of fine structural changes due to two novel and other well known MPZ mutationsIn: Journal of the Peripheral Nervous System , Jg. 12 2007 , Nr. Suppl. 1 , S. 78
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Therapeutic effects of ephedrine in congenital myasthenic syndrome due to DOK7 mutationsIn: Neuromuscular Disorders , Jg. 17 2007 , Nr. 9-10 , S. 818 - 819
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Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular DiseasesIn: Caveolae: Methods and Protocols / Blouin, Cedric M. (Hrsg.) 2020 , S. 197 - 216
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Reversible Infantile Respiratory Chain DeficiencyIn: Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis / Cohen, Bruce H.; Saneto, Russell P.; Parikh, Sumit (Hrsg.) 2016 , S. 127 - 133
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Phänotypen, Langzeitverläufe und Therapiestrategien bei seltenen neuromuskulären ErkrankungenDuisburg Essen 2008
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Clinical characterization of a cohort of female carriers of X-linked myotubular myopathy (XL-MTM) in Germany : extending the phenotypic spectrum and knowledge about the impact of heterozygous variants in the MTM1 gene
57th European Society of Human Genetics (ESHG) Conference, June 1-4, 2024, Berlin, Germany,In: European Journal of Human Genetics , Jg. 32 2024 , Nr. Suppl. 2 , S. 1522(Open Access) -
A comprehensive study of the inflammatory signature in sarcoglycanopathies
28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,In: Neuromuscular Disorders , Jg. 33 2023 , Nr. Supplement 1 , S. S117 -
EMBARK, a Phase 3 trial evaluating safety and efficacy of delandistrogene moxeparvovec in DMD : study design and baseline characteristics
28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,In: Neuromuscular Disorders , Jg. 33 2023 , Nr. Supplement 1 , S. S68 - S69 -
First clinical and myopathological description of a congenital myopathy based on a homozygous variant in TNNI2
28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,In: Neuromuscular Disorders , Jg. 33 2023 , Nr. Supplement 1 , S. S125 -
Givinostat in Duchenne muscular dystrophy : effect on disease milestones
28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,In: Neuromuscular Disorders , Jg. 33 2023 , Nr. Supplement 1 , S. S106 -
Impaired neurodevelopment in children with 5q-SMA - 2 years after newborn screening
28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,In: Neuromuscular Disorders , Jg. 33 2023 , Nr. Supplement 1 , S. S86 -
Long-term effect of nusinersen treatment on motor, respiratory and bulbar function in children with SMA type 1 : A 3-year SMArtCARE registry study
27th International Congress of the World Muscle Society, 11 - 15 October 2022, Halifax, Nova Scotia, Canada,In: Neuromuscular Disorders , Jg. 32 2022 , Nr. Supplement 1 , S. S63 - S64DOI (Open Access) -
ER-stress and UPR-activation in immune-mediated necrotizing myopathy
26th International Congress of the World Muscle Society; 20th– 24th September 2021, Virtual,In: Neuromuscular Disorders , Jg. 31 2021 , Nr. Supplement 1, 26th International Congress of the World Muscle Society; 20th– 24th September 2021 , S. S53 -
Expression of Periostin in DMD patients and mdx mice
26th International Congress of the World Muscle Society; 20th– 24th September 2021, Virtual,In: Neuromuscular Disorders , Jg. 31 2021 , Nr. Supplement 1: 26th International Congress of the World Muscle Society; 20th– 24th September 2021 , S. S96 -
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement
26th International Congress of the World Muscle Society; 20th-24th September 2021, Virtual,In: Neuromuscular Disorders , Jg. 31 2021 , Nr. Supplement 1: 26th International Congress of the World Muscle Society; 20th– 24th September 2021 , S. S143 -
Exercise-induced acute renal failure due to carnitine palmitoyltransferase II deficiency
Pediatric Nephrology Spring Meeting 2009, March 28 – 31, 2009, Amsterdam, The Netherlands,In: Pediatric Nephrology , Jg. 24 2009 , Nr. 4 , S. 918 - 919 -
Muskel- und Nervenerkrankungen im Kindes- und Jugendalter : Was kann klinische Forschung leisten?
Die kleine Form, 07. November 2012, Essen,2012 (Die kleine Form 2012/2013)