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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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275th ENMC international workshop : Seronegative myasthenia gravis: An update paradigm for diagnosis and management, 9–11 February 2024, Hoofddorp, the NetherlandsIn: Neuromuscular Disorders Jg. 44 (2024) 104468Online Volltext: dx.doi.org/
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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 - 2797Online Volltext: dx.doi.org/ (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 - 491Online Volltext: dx.doi.org/ (Open Access)
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AAV gene therapy for Duchenne muscular dystrophy : The EMBARK phase 3 randomized trialIn: Nature Medicine (2024) in pressOnline Volltext: dx.doi.org/ (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, 53Online Volltext: dx.doi.org/ (Open Access)
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Clinical Effectiveness of Newborn Screening for Spinal Muscular AtrophyIn: JAMA Pediatrics Jg. 178 (2024) Nr. 6, S. 540 - 547Online Volltext: dx.doi.org/
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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) 101092Online Volltext: dx.doi.org/
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Functional trajectories before and after loss of ambulation in Duchenne muscular dystrophy and implications for clinical trialsIn: PLoS ONE Jg. 19 (2024) e0304099Online Volltext: dx.doi.org/ (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) 100822Online Volltext: dx.doi.org/ (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 - 151Online Volltext: dx.doi.org/ 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 - 775Online Volltext: dx.doi.org/ (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 - 983Online Volltext: dx.doi.org/
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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) 100862Online Volltext: dx.doi.org/ (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 - 1341Online Volltext: dx.doi.org/
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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, e13200Online Volltext: dx.doi.org/ (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 - 600Online Volltext: dx.doi.org/ (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 - 645Online Volltext: dx.doi.org/ (Open Access)
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Skeletal muscle vulnerability in a child with Pitt-Hopkins syndromeIn: Skeletal Muscle Jg. 14 (2024) Nr. 1, 15Online Volltext: dx.doi.org/ (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 - 52Online Volltext: dx.doi.org/ (Open Access)
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Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophyIn: Journal of Neurology (2024) in pressOnline Volltext: dx.doi.org/ (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 - 2618Online Volltext: dx.doi.org/ (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 - 4216Online Volltext: dx.doi.org/
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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 - 4164Online Volltext: dx.doi.org/ (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 - 677Online Volltext: dx.doi.org/ (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) 1259293Online Volltext: dx.doi.org/ (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 - 40Online Volltext: dx.doi.org/ (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, 6808Online Volltext: dx.doi.org/ (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 - 65Online Volltext: dx.doi.org/ (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 - 611Online Volltext: dx.doi.org/
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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 - 3158Online Volltext: dx.doi.org/ (Open Access)
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Pädiatrische NeurointensivmedizinIn: Der Nervenarzt Jg. 94 (2023) Nr. 2, S. 75 - 83Online Volltext: dx.doi.org/ (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 - 12Online Volltext: dx.doi.org/ (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 - 899Online Volltext: dx.doi.org/
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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 - 635Online Volltext: dx.doi.org/ (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 - 184Online Volltext: dx.doi.org/ (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 - 4246Online Volltext: dx.doi.org/ (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, fcad017Online Volltext: dx.doi.org/ (Open Access)
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„Essener Transitionsmodell“ bei neuromuskulären ErkrankungenIn: Der Nervenarzt Jg. 94 (2023) Nr. 2, S. 129 - 135Online Volltext: dx.doi.org/ (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) S. 60 - 64Online Volltext: dx.doi.org/
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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 - 291Online Volltext: dx.doi.org/ (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 - 1520Online Volltext: dx.doi.org/ (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, e13084Online Volltext: dx.doi.org/ (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 pressOnline Volltext: dx.doi.org/ (Open Access)
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Essen transition model for neuromuscular diseasesIn: Neurological Research and Practice Jg. 4 (2022) Nr. 1, 41Online Volltext: dx.doi.org/ (Open Access)
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Genetisch basierte Therapien bei spinaler MuskelatrophieIn: Der Nervenarzt Jg. 93 (2022) Nr. 6, S. 549 - 556Online Volltext: dx.doi.org/
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Genomik und Proteomik in der Erforschung neuromuskulärer ErkrankungenIn: Der Nervenarzt Jg. 93 (2022) S. 114 - 121Online Volltext: dx.doi.org/
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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 - 107Online Volltext: dx.doi.org/ (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 - 486Online Volltext: dx.doi.org/ (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, 384Online Volltext: dx.doi.org/ (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 - 35Online Volltext: dx.doi.org/
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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 - 4015Online Volltext: dx.doi.org/ (Open Access)
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Neugeborenenscreeningprogramm für die spinale MuskelatrophieIn: Der Nervenarzt Jg. 93 (2022) S. 135 - 141Online Volltext: dx.doi.org/
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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 - E2233Online Volltext: dx.doi.org/
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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 - 605Online Volltext: dx.doi.org/
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Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspectsIn: Orphanet Journal of Rare Diseases Jg. 17 (2022) Nr. 1, 29Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Parental Burden and Quality of Life in 5q-SMA diagnosed by Newborn ScreeningIn: Children Jg. 2022 (2022) Nr. 9, 1829Online Volltext: dx.doi.org/ (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 - 237Online Volltext: dx.doi.org/
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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 - 396Online Volltext: dx.doi.org/ (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 - 59Online Volltext: dx.doi.org/ (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 - 28Online Volltext: dx.doi.org/ (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 - 583Online Volltext: dx.doi.org/ (Open Access)
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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisIn: Nature Medicine Jg. 27 (2021) Nr. 7, S. 1197 - 1204Online Volltext: dx.doi.org/ Online Volltext (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, 721Online Volltext: dx.doi.org/ 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 - 90Online Volltext: dx.doi.org/ (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 - 747Online Volltext: dx.doi.org/ (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 - 619Online Volltext: dx.doi.org/ Online Volltext (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 - 61Online Volltext: dx.doi.org/ (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 - 1353Online Volltext: dx.doi.org/ (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 - 986Online Volltext: dx.doi.org/ (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, e1767Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Expertenempfehlung : Therapie nichtgehfähiger Patienten mit Muskeldystrophie DuchenneIn: Der Nervenarzt Jg. 92 (2021) Nr. 4, S. 359 - 366Online Volltext: dx.doi.org/ (Open Access)
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Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophyIn: Neuromuscular Disorders Jg. 31 (2021) Nr. 11, S. 1161 - 1168Online Volltext: dx.doi.org/
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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 - 43Online Volltext: dx.doi.org/
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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 - 866Online Volltext: dx.doi.org/ (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 - 1221Online Volltext: dx.doi.org/ (Open Access)
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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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Lessons Learned from Discontinued Clinical Developments in Duchenne Muscular DystrophyIn: Frontiers in Pharmacology Jg. 12 (2021) 735912Online Volltext: dx.doi.org/ (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, 7835Online Volltext: dx.doi.org/ 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 - 373Online Volltext: dx.doi.org/ (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. 153Online Volltext: dx.doi.org/ (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, S. 42Online Volltext: dx.doi.org/ (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, 3481Online Volltext: dx.doi.org/ 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. 73Online Volltext: dx.doi.org/ (Open Access)
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Risdiplam : Aus ExpertensichtIn: Arzneimitteltherapie (AMT) Jg. 39 (2021) Nr. 9, S. 293 - 294
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Risdiplam : Aus ExpertensichtIn: Psychopharmakotherapie Jg. 28 (2021) Nr. 5, S. 205 - 206
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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. S125Online Volltext: dx.doi.org/ (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 - e512Online Volltext: dx.doi.org/ Online Volltext (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) 441Online Volltext: dx.doi.org/ (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 - 875Online Volltext: dx.doi.org/ (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) 102587Online Volltext: dx.doi.org/ (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 - 1614Online Volltext: dx.doi.org/ (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) S. 242Online Volltext: dx.doi.org/ (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 - 529Online Volltext: dx.doi.org/ (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 - 117Online Volltext: dx.doi.org/ (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) 560860Online Volltext: dx.doi.org/ 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 - 16Online Volltext: dx.doi.org/ (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 - 984Online Volltext: dx.doi.org/ (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. e105364Online Volltext: dx.doi.org/ (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 - 897Online Volltext: dx.doi.org/ (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 - 2708Online Volltext: dx.doi.org/ (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 - 1488Online Volltext: dx.doi.org/ (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 - 985Online Volltext: dx.doi.org/
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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 - e1527Online Volltext: dx.doi.org/ Online Volltext (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 - 46Online Volltext: dx.doi.org/
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Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec : Stellungnahme der Gesellschaft für NeuropädiatrieIn: Monatsschrift Kinderheilkunde (2020)Online Volltext: dx.doi.org/ (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 - 261Online Volltext: dx.doi.org/
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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. 1,Online Volltext: dx.doi.org/ (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. 105Online 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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Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.In: Frontiers in Neurology Jg. 10 (2019) S. 470Online Volltext: dx.doi.org/ (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 - 496Online Volltext: dx.doi.org/
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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 - 515Online Volltext: dx.doi.org/ (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. 18Online Volltext: dx.doi.org/ (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 - 2237Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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X-linked myotubular myopathy: A prospective international natural history studyIn: Neurology Jg. 92 (2019) Nr. 16, S. E1852 - E1867Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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226th ENMC International Workshop : Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20–22 January 2017, Heemskerk, The NetherlandsIn: Neuromuscular Disorders Jg. 28 (2018) Nr. 1, S. 77 - 86Online Volltext: dx.doi.org/ (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. 291Online Volltext: dx.doi.org/ (Open Access)
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Congenital Myopathies (CNM)In: Neuromuscular Disorders Jg. 28 (2018) Nr. SUPPL. 2, S. S71Online Volltext: dx.doi.org/
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DMD Clinical Therapies IIn: Neuromuscular Disorders Jg. 28 (2018) Nr. SUPPL. 2, S. S65Online Volltext: dx.doi.org/
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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. 40Online Volltext: dx.doi.org/ (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 - 120Online Volltext: dx.doi.org/ (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 - 143Online Volltext: dx.doi.org/ (Open Access)
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In Memoriam : Professor Hermann DooseIn: Neuropediatrics Jg. 49 (2018) Nr. 4, S. 299 - 300Online Volltext: dx.doi.org/ (Open Access)
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Isolated PREPL deficiency associated with congenital myasthenic syndrome-22In: Klinische Pädiatrie Jg. 230 (2018) Nr. 5, S. 281 - 283Online Volltext: dx.doi.org/
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Juvenile Myasthenia gravisIn: Aktuelle Neurologie Jg. 45 (2018) Nr. 4, S. 283 - 287Online Volltext: dx.doi.org/
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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 - 219Online Volltext: dx.doi.org/
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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. S137Online Volltext: dx.doi.org/
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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. e0201004Online Volltext: dx.doi.org/ (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. S110Online Volltext: dx.doi.org/
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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 - 37Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Transition von der Neuropädiatrie zur Neurologie bei neuromuskulären ErkrankungenIn: Der Nervenarzt Jg. 89 (2018) Nr. 10, S. 1123 - 1130Online Volltext: dx.doi.org/
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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. S243Online Volltext: dx.doi.org/
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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 - S225Online 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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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localizationIn: Brain: A Journal of Neurology Jg. 140 (2017) Nr. 11, S. 2838 - 2850Online Volltext: dx.doi.org/
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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. e0175611Online Volltext: dx.doi.org/ (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 - 634Online Volltext: dx.doi.org/
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Developing standardized corticosteroid treatment for Duchenne muscular dystrophyIn: Contemporary Clinical Trials Jg. 58 (2017) S. 34 - 39Online Volltext: dx.doi.org/ Online Volltext (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. e0173144Online Volltext: dx.doi.org/ (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. S170Online Volltext: dx.doi.org/
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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. S134Online Volltext: dx.doi.org/
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New myotubular myopathy classificationIn: Neuromuscular Disorders Jg. 27 (2017) Nr. Suppl. 2, S. S169Online Volltext: dx.doi.org/
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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 - 322Online Volltext: dx.doi.org/
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Perinataler Schlaganfall und Sinusvenenthrombose : Klinik, Diagnostik und therapeutische AnsätzeIn: Monatsschrift Kinderheilkunde Jg. 165 (2017) Nr. 7, S. 596 - 604Online Volltext: dx.doi.org/
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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 - S221Online Volltext: dx.doi.org/
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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 - S208Online Volltext: dx.doi.org/
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Spinale Muskelatrophie : Zeit für das Neugeborenenscreening?In: Der Nervenarzt Jg. 88 (2017) Nr. 12, S. 1358 - 1366Online Volltext: dx.doi.org/
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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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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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Abstracts of the 42nd Annual Meeting of the Society for NeuropediatricsIn: Neuropediatrics Jg. 47 (2016) Nr. S 01, S. e1Online Volltext: dx.doi.org/
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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. 103Online Volltext: dx.doi.org/
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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 - S117Online Volltext: dx.doi.org/
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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 - 321Online Volltext: dx.doi.org/ (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. 652Online Volltext: dx.doi.org/
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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 - 43Online Volltext: dx.doi.org/
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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. 45Online Volltext: dx.doi.org/ (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 - 781Online Volltext: dx.doi.org/ (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. 102Online 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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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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Invitation and a Warm Welcome to the 42nd Annual Meeting of the Society for NeuropediatricsIn: Neuropediatrics Jg. 47 (2016) Nr. 2, S. 69Online Volltext: dx.doi.org/
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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 - 88Online Volltext: dx.doi.org/
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LGMD2I elicits a specific skeletal muscle immune responseIn: Neuromuscular Disorders Jg. 26 (2016) Nr. Suppl. 2, S. 92Online Volltext: dx.doi.org/
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Mitochondrial dysfunction in liver failure requiring transplantationIn: Journal of Inherited Metabolic Disease (JIMD) Jg. 39 (2016) Nr. 3, S. 427 - 436Online Volltext: dx.doi.org/ (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 - S139Online Volltext: dx.doi.org/
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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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Cardiac pathologies in female carriers of Duchenne muscular dystrophy assessed by cardiovascular magnetic resonance imagingIn: European Radiology Jg. 25 (2015) Nr. 10, S. 3066 - 3072Online Volltext: dx.doi.org/
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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. e0126528Online Volltext: dx.doi.org/ (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 - 1757Online Volltext: dx.doi.org/
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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 - 40Online Volltext: dx.doi.org/
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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. 196Online Volltext: dx.doi.org/
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Mechanical insufflation/exsufflation improves vital capacity in neuromuscular disordersIn: Chronic Respiratory Disease Jg. 12 (2015) Nr. 1, S. 31 - 35Online Volltext: dx.doi.org/ (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. 305Online Volltext: dx.doi.org/
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Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathyIn: Neurology Jg. 84 (2015) Nr. 5, S. 523 - 531Online Volltext: dx.doi.org/
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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. 246Online Volltext: dx.doi.org/
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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 - 271Online Volltext: dx.doi.org/
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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. 21Online Volltext: dx.doi.org/ (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 - 1863Online Volltext: dx.doi.org/
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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. 201Online Volltext: dx.doi.org/
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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 - 022Online Volltext: dx.doi.org/ (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 - 806Online Volltext: dx.doi.org/
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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 - 343Online Volltext: dx.doi.org/
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Evaluation of cardiologic status in carriers of Duchenne Muscular DystrophyIn: Neuromuscular Disorders Jg. 24 (2014) Nr. 9-10, S. 859 - 860Online Volltext: dx.doi.org/
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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. 887Online Volltext: dx.doi.org/
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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 - 44Online Volltext: dx.doi.org/
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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 - 83Online Volltext: dx.doi.org/
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Mitteilungen aus der Gesellschaft für NeuropädiatrieIn: Neuropediatrics Jg. 45 (2014) Nr. 2, S. 132 - 132Online Volltext: dx.doi.org/
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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 - 921Online Volltext: dx.doi.org/
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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 - 142Online Volltext: dx.doi.org/
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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 - 77Online Volltext: dx.doi.org/ (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 - 335Online Volltext: dx.doi.org/
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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 - 4615Online Volltext: dx.doi.org/ (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. 1003430Online Volltext: dx.doi.org/ (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 - 1958Online Volltext: dx.doi.org/
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Mitteilungen aus der Gesellschaft für NeuropädiatrieIn: Neuropediatrics Jg. 44 (2013) Nr. 4, S. 179Online Volltext: dx.doi.org/
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Morphological spectrum and clinical features of myopathies with tubular aggregatesIn: Histology and Histopathology Jg. 28 (2013) Nr. 8, S. 1041 - 1054Online Volltext: dx.doi.org/
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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 - 22Online Volltext: dx.doi.org/
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Pediatric herpes simplex virus encephalitis : A retrospective multicenter experienceIn: Journal of Child Neurology Jg. 28 (2013) Nr. 3, S. 321 - 331Online Volltext: dx.doi.org/
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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 - 264Online Volltext: dx.doi.org/
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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 - 481Online Volltext: dx.doi.org/
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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 - 988Online Volltext: dx.doi.org/
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Congenital Myasthenic Syndromes : Current Diagnostic and Therapeutic ApproachesIn: Neuropediatrics Jg. 43 (2012) Nr. 4, S. 184 - 193Online Volltext: dx.doi.org/
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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 - 1484Online Volltext: dx.doi.org/
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Diagnose und Therapie der Muskeldystrophie DuchenneIn: Monatsschrift Kinderheilkunde Jg. 160 (2012) Nr. 2, S. 177 - 186Online Volltext: dx.doi.org/
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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. 1310Online Volltext: dx.doi.org/
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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 - 168Online Volltext: dx.doi.org/
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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 - 201Online Volltext: dx.doi.org/
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Congenital myasthenic syndromesIn: Nervenheilkunde Jg. 30 (2011) Nr. 10, S. 797 - 804Online Volltext: dx.doi.org/
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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. 644Online Volltext: dx.doi.org/
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Health-related quality of life in patients with Duchenne Muscular DystrophyIn: Neuromuscular Disorders Jg. 21 (2011) Nr. 9-10, S. 652Online Volltext: dx.doi.org/
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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 - 405Online Volltext: dx.doi.org/
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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: Schmerz Jg. 25 (2011) Nr. 2, S. 148 - 156Online Volltext: dx.doi.org/
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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 - 1179Online Volltext: dx.doi.org/
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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 - 195Online Volltext: dx.doi.org/
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Autosomal-dominante akute nekrotisierende EnzephalopathieIn: Monatsschrift Kinderheilkunde Jg. 158 (2010) Nr. 1, S. 54 - 56Online Volltext: dx.doi.org/
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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 - 1581Online Volltext: dx.doi.org/
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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 - 333Online Volltext: dx.doi.org/
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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. S51Online Volltext: dx.doi.org/ -
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 - 1059Online Volltext: dx.doi.org/
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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 - 832Online Volltext: dx.doi.org/
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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 - 610Online Volltext: dx.doi.org/
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Kongenitale Strukturmyopathien : Eine ÜbersichtIn: Medizinische Genetik Jg. 21 (2009) Nr. 3, S. 316 - 321Online Volltext: dx.doi.org/
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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 - 759Online Volltext: dx.doi.org/
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Myopathien im Kindesalter - Evaluation mittels Kernspintomografie der MuskulaturIn: Klinische Pädiatrie Jg. 220 (2008) Nr. 1, S. 37 - 46Online Volltext: dx.doi.org/
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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 - 230Online Volltext: dx.doi.org/
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Therapeutic strategies in congenital myasthenic syndromesIn: Neurotherapeutics Jg. 5 (2008) Nr. 4, S. 542 - 547Online Volltext: dx.doi.org/ (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 - 447Online Volltext: dx.doi.org/
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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 - 1506Online Volltext: dx.doi.org/ (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 - 472Online Volltext: dx.doi.org/ (Open Access)
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Neuropädiatrie trifft Neurologie : Gemeinsamkeiten – Unterschiede?In: Der Nervenarzt Jg. 93 (2022) Nr. 2, S. 111 - 113Online Volltext: dx.doi.org/ (Open Access)
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Editorial: Spinal Muscular Atrophy : Evolutions and Revolutions of Modern TherapyIn: Frontiers in Neurology Jg. 11 (2020) S. 783Online Volltext: dx.doi.org/ (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 - 698Online Volltext: dx.doi.org/
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A Homozygous NDUfs6 Variant Associated with Neuropathy, Optic Atrophy and Protein Changes
PNS Annual Meeting 2024; Montreal, Canada; 22‐25 June 2024,In: Journal of the Peripheral Nervous System Jg. 29 (2024) Nr. Suppl. 3, S. S.22Online Volltext: dx.doi.org/ -
Giant Axon Neuropathy (GAN): Cross-Sectional Data on Phenotypes, Genotypes and Biomarkers : The German Experience
PNS Annual Meeting 2024; Montreal, Canada; 22‐25 June 2024,In: Journal of the Peripheral Nervous System Jg. 29 (2024) Nr. Suppl. 3, S. S.22 - S23Online Volltext: dx.doi.org/ -
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
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. S130Online Volltext: dx.doi.org/ -
Givinostat in DMD : Results of the Epidys StudyIn: Neuromuscular Disorders Jg. 32 (2022) Nr. Suppl. 1, S. 95 - S96Online Volltext: dx.doi.org/ (Open Access)
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Long-term effect of nusinersen treatment on motor, respiratory and bulbar function in children with SMA type 1 : A 3-year SMArtCARE registry studyIn: Neuromuscular Disorders Jg. 32 (2022) S. 63 - S64Online Volltext: dx.doi.org/ (Open Access)
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Molecular pathology of human PPP1R21 deficiencyIn: Neuromuscular Disorders Jg. 32 (2022) Nr. Suppl. 1, S. 76Online Volltext: dx.doi.org/ (Open Access)
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NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
Peripheral Nerve Society (PNS) 2022 Annual Meeting, 14.-17.05.2022, Florida,In: Journal of the Peripheral Nervous System Jg. 27 (2022) Nr. S3: Abstracts of the 2022 Peripheral Nerve Society Annual Meeting, S. S60 - S60Online Volltext: dx.doi.org/ (Open Access) -
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
146th Annual Meeting American Neurological Association Presented virtually October 17–19, 2021 Opening Symposium: October 16, 2021,In: Annals of Neurology Jg. 90 (2021) Nr. S27, S. S220 - S221Online Volltext: dx.doi.org/ (Open Access) -
EP.305 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,In: Neuromuscular Disorders Jg. 31 (2021) S. S143Online Volltext: dx.doi.org/ -
ER-stress and UPR-activation in immune-mediated necrotizing myopathyIn: Neuromuscular Disorders Jg. 31 (2021) Nr. Supplement 1, 26th International Congress of the World Muscle Society; 20th– 24th September 2021, S. S53Online Volltext: dx.doi.org/
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Expression of Periostin in DMD patients and mdx mice
26th International Congress of the World Muscle Society; 20th– 24th September 2021,In: Neuromuscular Disorders Jg. 31 (2021) Nr. Supplement 1, S. S96Online Volltext: dx.doi.org/ -
Combined protein and transcript studies identify periostin as a DMD tissue and blood marker protein
25th (Virtuell) Congress of the World Muscle Society ; WMS 2020 ; 28 September - 2 October 2020, Halifax, Canada,In: Neuromuscular Disorders Jg. 30 (2020) Nr. Supplement 1, S. 83Online Volltext: dx.doi.org/ -
Description of muscular involvement in a NEFL-caused neurological disease
25th (Virtuell) Congress of the World Muscle Society ; WMS 2020 ; 28 September - 2 October 2020, Halifax, Canada,In: Neuromuscular Disorders Jg. 30 (2020) Nr. Supplement 1, S. S79Online Volltext: dx.doi.org/ -
Fibroblasts as a suitable biomaterial to study the etiology of neuromuscular diseases
25th (Virtuell) Congress of the World Muscle Society ; WMS 2020 ; 28 September - 2 October 2020, Halifax, Canada,In: Neuromuscular Disorders Jg. 30 (2020) Nr. Supplement 1, S. S50 - S51Online Volltext: dx.doi.org/ -
SMArtCARE : Real-world-data collection of patients with spinal muscular atrophy
25th (Virtuell) Congress of the World Muscle Society ; WMS 2020 ; 28 September - 2 October 2020, Halifax, Canada,In: Neuromuscular Disorders Jg. 30 (2020) Nr. Supplement 1, S. S97Online Volltext: dx.doi.org/ -
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. A124Online Volltext: dx.doi.org/ (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 - S65Online Volltext: dx.doi.org/
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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 - S82Online Volltext: dx.doi.org/
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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. S107Online Volltext: dx.doi.org/
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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. S128Online Volltext: dx.doi.org/
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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. S130Online 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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P.275 Determination of protein markers in skeletal muscle of SMA type 3 patientsIn: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S147Online Volltext: dx.doi.org/
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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. S192Online Volltext: dx.doi.org/
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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. S196Online Volltext: dx.doi.org/
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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. S56Online Volltext: dx.doi.org/
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Time-dependent development of fibrosis and inflammation in Duchenne Muscular DystrophyIn: Neuromuscular Disorders Jg. 24 (2014) Nr. 9-10, S. 856 - 856Online Volltext: dx.doi.org/
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A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndromeIn: Neuromuscular Disorders / UK Neuromuscular Translational Research Conference ; 22nd – 23rd March 2012, Newcastle upon Tyne, UK Jg. 22 (2012) Nr. Supplement 1, S. S16 - S17Online Volltext: dx.doi.org/
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Myasthenia gravis in young children and adolescents : Clinical symptoms and treatment optionsIn: Neuromuscular Disorders / 17th International Congress of The World Muscle Society Jg. 22 (2012) S. 856Online Volltext: dx.doi.org/
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Myasthenic symptoms : From initial presentation to diagnosisIn: Neuromuscular Disorders / 17th International Congress of The World Muscle Society Jg. 22 (2012) Nr. 9-10, S. 856Online Volltext: dx.doi.org/
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Percent predicted forced vital capacity is a viable outcome measure in Laminin alpha 2 – Deficient congenital muscular dystrophyIn: Neuromuscular Disorders / 17th International Congress of The World Muscle Society Jg. 22 (2012) Nr. 9-10, S. 893 - 894Online Volltext: dx.doi.org/
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Isolated CD59 deficiency mimicking paroxysmal nocturnal hemoglobinuria (PNH) - flow cytometric detection and genetic characterizationIn: Onkologie / Deutsche, Österreichische und Schweizerische Gesellschaften für Hämatologie und Onkologie Jahrestagung, Berlin, Oktober 2010 Jg. 33 (2010) Nr. Suppl. 6, S. 112 - 113
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Exercise-induced acute renal failure due to carnitine palmitoyltransferase II deficiencyIn: Pediatric Nephrology Jg. 24 (2009) Nr. 4, S. 918 - 919
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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. P743Online Volltext: dx.doi.org/
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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 - 832Online Volltext: dx.doi.org/
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Clinical variability in siblings with calpainopathy (LGMD2A)In: Neuromuscular Disorders Jg. 17 (2007) Nr. 9-10, S. 791 - 791Online Volltext: dx.doi.org/
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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 - 846Online Volltext: dx.doi.org/
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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 - 216Online Volltext: dx.doi.org/
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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 - 133Online Volltext: dx.doi.org/
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Phänotypen, Langzeitverläufe und Therapiestrategien bei seltenen neuromuskulären ErkrankungenDuisburg Essen (2008) 1 CD-ROM
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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. S117Online Volltext: dx.doi.org/ -
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 - S69Online Volltext: dx.doi.org/ -
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. S125Online Volltext: dx.doi.org/ -
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. S106Online Volltext: dx.doi.org/ -
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. S86Online Volltext: dx.doi.org/ -
Muskel- und Nervenerkrankungen im Kindes- und Jugendalter : Was kann klinische Forschung leisten?
Die kleine Form, 07. November 2012, Essen,In: Die kleine Form 2012/2013 (2012)