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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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1. Lebenstag/m mit fehlender Spontanbewegung und respiratorischer Insuffizienz : Vorbereitung auf die Facharztprüfung: Fall 43In: Monatsschrift Kinderheilkunde Jg. 170 (2022) S. 60 - 64
ISSN: 0026-9298; 1433-0474Online Volltext: dx.doi.org/ -
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 - 291
ISSN: 1552-4833; 1552-4825Online Volltext: dx.doi.org/ (Open Access) -
Endoplasmic reticulum-stress and unfolded protein response-activation in immune-mediated necrotizing myopathyIn: Brain Pathology (2022)
ISSN: 1750-3639; 1015-6305Online Volltext: dx.doi.org/ (Open Access) -
Genetisch basierte Therapien bei spinaler MuskelatrophieIn: Der Nervenarzt (2022) in press
ISSN: 1433-0407; 0028-2804Online Volltext: dx.doi.org/ -
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 - 107
ISSN: 1096-9896; 0022-3417; 0368-3494Online Volltext: dx.doi.org/ (Open Access) -
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 - 486
ISSN: 1098-1004; 1059-7794Online Volltext: dx.doi.org/ (Open Access) -
Neugeborenenscreeningprogramm für die spinale MuskelatrophieIn: Der Nervenarzt Jg. 93 (2022) S. 135 - 141
ISSN: 1433-0407; 0028-2804Online Volltext: dx.doi.org/ -
Patterns of cardiac involvement in different muscular dystrophies assessed by magnetic resonance imagingIn: Acta Radiologica (2022) in press
ISSN: 1600-0455; 0284-1851; 0001-6926; 0365-5954Online Volltext: dx.doi.org/ -
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 - 396
ISSN: 2214-3602; 2214-3599Online Volltext: dx.doi.org/ (Open Access) -
„Essener Transitionsmodell“ bei neuromuskulären ErkrankungenIn: Der Nervenarzt (2022) in press
ISSN: 1433-0407; 0028-2804Online Volltext: dx.doi.org/ (Open Access) -
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 - 59
ISSN: 1433-0474; 0026-9298Online Volltext: dx.doi.org/ (Open Access) -
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 - 28
ISSN: 1433-0474; 0026-9298Online Volltext: dx.doi.org/ (Open Access) -
Bi-allelic truncating mutations in VWA1 cause neuromyopathyIn: Brain: A Journal of Neurology Jg. 144 (2021) Nr. 2, S. 574 - 583
ISSN: 0006-8950; 1460-2156Online Volltext: dx.doi.org/ (Open Access) -
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisIn: Nature Medicine Jg. 27 (2021) Nr. 7, S. 1197 - 1204
ISSN: 1546-170X; 1078-8956Online Volltext: dx.doi.org/ -
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 für Kinderheilkunde Jg. 169 (2021) Nr. 8, S. 738 - 747
ISSN: 1433-0474; 0026-9298Online Volltext: dx.doi.org/ (Open Access) -
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 - 619
ISSN: 2214-3602; 2214-3599Online Volltext: dx.doi.org/ Online Volltext (Open Access) -
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 - 61
ISSN: 1433-0474; 0026-9298Online Volltext: dx.doi.org/ (Open Access) -
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 (2021) in press
ISSN: 1476-5438; 1018-4813Online Volltext: dx.doi.org/ (Open Access) -
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 - 986
ISSN: 0141-8955; 1573-2665Online Volltext: dx.doi.org/ (Open Access) -
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease processIn: Molecular Genetics & Genomic Medicine (2021)
ISSN: 2324-9269Online Volltext: dx.doi.org/ (Open Access) -
Expertenempfehlung : Therapie nichtgehfähiger Patienten mit Muskeldystrophie DuchenneIn: Der Nervenarzt Jg. 92 (2021) Nr. 4, S. 359 - 366
ISSN: 1433-0407; 0028-2804Online Volltext: dx.doi.org/ (Open Access) -
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
ISSN: 1873-2364; 0960-8966Online Volltext: dx.doi.org/ -
Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophagesIn: Neuropathology and Applied Neurobiology Jg. 47 (2021) Nr. 6, S. 856 - 866
ISSN: 1365-2990; 0305-1846Online Volltext: dx.doi.org/ (Open Access) -
International retrospective natural history study of LMNA-related congenital muscular dystrophyIn: Brain Communications Jg. 3 (2021) Nr. 3,
ISSN: 2632-1297Online Volltext: dx.doi.org/ (Open Access) -
Lessons Learned from Discontinued Clinical Developments in Duchenne Muscular DystrophyIn: Frontiers in Pharmacology Jg. 12 (2021)
ISSN: 1663-9812Online Volltext: dx.doi.org/ (Open Access) -
Muscular and molecular pathology associated with SPATA5 deficiency in a child with EHLMRSIn: International Journal of Molecular Sciences (IJMS) Jg. 22 (2021) Nr. 15,
ISSN: 1422-0067; 1661-6596Online Volltext: dx.doi.org/ (Open Access) -
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 - 373
ISSN: 2328-9503Online Volltext: dx.doi.org/ (Open Access) -
Neugeborenenscreening auf spinale Muskelatrophie : Was muss der Pädiater wissen?In: Monatsschrift Kinderheilkunde (2021) in press
ISSN: 0026-9298; 1433-0474Online Volltext: dx.doi.org/ (Open Access) -
Newborn screening for spinal muscular atrophy in Germany : Clinical results after 2 yearsIn: Orphanet Journal of Rare Diseases Jg. 16 (2021) Nr. 1, S. 153
ISSN: 1750-1172Online Volltext: dx.doi.org/ (Open Access) -
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 (OJRD) Jg. 16 (2021) Nr. 1, S. 42
ISSN: 1750-1172Online Volltext: dx.doi.org/ (Open Access) -
Phenotypical and myopathological consequences of compound heterozygous missense and nonsense variants in slc18a3In: Cells Jg. 10 (2021) Nr. 12,
ISSN: 2073-4409Online Volltext: dx.doi.org/ (Open Access) -
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. 73
ISSN: 1750-1172Online Volltext: dx.doi.org/ (Open Access) -
Risdiplam : Aus ExpertensichtIn: Psychopharmakotherapie Jg. 28 (2021) Nr. 5, S. 205 - 206
ISSN: 0944-6877 -
SMA Clinical Data : Description of cardiac involvement in 5q SMA pediatric patientsIn: Neuromuscular Disorders Jg. 31 (2021) Nr. Suppl. 1, S. S125
ISSN: 0960-8966; 1873-2364Online Volltext: dx.doi.org/ (Open Access) -
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers : An International Questionnaire StudyIn: Neurology Jg. 97 (2021) Nr. 5, S. e501 - e512
ISSN: 1526-632X; 0028-3878Online Volltext: dx.doi.org/ -
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)
ISSN: 1750-1172Online Volltext: dx.doi.org/ (Open Access) -
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 - 875
ISSN: 1873-2364; 0960-8966Online Volltext: dx.doi.org/ -
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanismIn: EBioMedicine Jg. 51 (2020)
ISSN: 2352-3964Online Volltext: dx.doi.org/ (Open Access) -
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 - 1614
ISSN: 1098-1004; 1059-7794Online Volltext: dx.doi.org/ (Open Access) -
Further evidence for POMK as candidate gene for WWS with meningoencephaloceleIn: Orphanet Journal of Rare Diseases Jg. 15 (2020) S. 242
ISSN: 1750-1172Online Volltext: dx.doi.org/ (Open Access) -
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 - 529
ISSN: 1433-0407; 0028-2804Online Volltext: dx.doi.org/ (Open Access) -
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 - 117
ISSN: 2214-3602; 2214-3599Online Volltext: dx.doi.org/ (Open Access) -
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes : A Retrospective Single Centre Cohort StudyIn: Frontiers in Human Neuroscience Jg. 14 (2020)
ISSN: 1662-5161Online Volltext: dx.doi.org/ Online Volltext (Open Access) -
Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophyIn: Neuromuscular Disorders Jg. 30 (2020) Nr. 1, S. 5 - 16
ISSN: 0960-8966; 1873-2364Online Volltext: dx.doi.org/ (Open Access) -
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 - 984
ISSN: 2042-6305; 2042-6313Online Volltext: dx.doi.org/ (Open Access) -
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiencyIn: The EMBO Journal Jg. 39 (2020) Nr. 23, S. e105364
ISSN: 1460-2075; 0261-4189Online Volltext: dx.doi.org/ (Open Access) -
Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter : Große Hoffnungen und unbekannte RisikenIn: Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz Jg. 63 (2020) Nr. 7, S. 891 - 897
ISSN: 1437-1588; 1436-9990Online Volltext: dx.doi.org/ (Open Access) -
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 - 2708
ISSN: 0006-8950; 1460-2156Online Volltext: dx.doi.org/ (Open Access) -
Nicht-dystrophe Myotonie und periodische ParalysenIn: Pädiatrische Praxis Jg. 93 (2020) Nr. 2, S. 237 - 240
ISSN: 2198-1698; 0030-9346 -
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weaknessIn: Genetics in Medicine (GIM) Jg. 22 (2020) Nr. 9, S. 1478 - 1488
ISSN: 1530-0366; 1098-3600Online Volltext: dx.doi.org/ (Open Access) -
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
ISSN: 1873-2364; 0960-8966Online Volltext: dx.doi.org/ -
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy : A case seriesIn: Neurology Jg. 95 (2020) Nr. 11, S. e1512 - e1527
ISSN: 1526-632XOnline Volltext: dx.doi.org/ Online Volltext (Open Access) -
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
ISSN: 2214-3602; 2214-3599Online Volltext: dx.doi.org/ -
Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec : Stellungnahme der Gesellschaft für NeuropädiatrieIn: Monatsschrift Kinderheilkunde (2020)
ISSN: 0026-9298; 1433-0474Online Volltext: dx.doi.org/ (Open Access) -
Characteristic clinical and ultrastructural findings in nesprinopathiesIn: European Journal of Paediatric Neurology Jg. 23 (2019) Nr. 2, S. 254 - 261
ISSN: 1532-2130; 1090-3798Online Volltext: dx.doi.org/ -
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,
ISSN: 1750-1172Online Volltext: dx.doi.org/ (Open Access) -
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. 105
ISSN: 1750-1172Online Volltext: dx.doi.org/ (Open Access) -
Evaluating the effect of long-term idebenone treatment on respiratory morbidity in patients with Duchenne muscular dystrophy (DMD)In: European Respiratory Journal Jg. 54 (2019) Nr. Suppl. 63,
ISSN: 0903-1936; 1399-3003Online Volltext: dx.doi.org/ -
Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.In: Frontiers in Neurology Jg. 10 (2019) S. 470
ISSN: 1664-2295Online Volltext: dx.doi.org/ (Open Access) -
Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophyIn: Neuromuscular Disorders Jg. 29 (2019) Nr. 7, S. 487 - 496
ISSN: 0960-8966; 1873-2364Online Volltext: dx.doi.org/ -
One Year of Newborn Screening for SMA - Results of a German Pilot ProjectIn: Journal of Neuromuscular Diseases Jg. 6 (2019) Nr. 4, S. 503 - 515
ISSN: 2214-3602; 2214-3599Online Volltext: dx.doi.org/ (Open Access) -
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. 18
ISSN: 1750-1172Online Volltext: dx.doi.org/ (Open Access) -
SOD1 deficiency : a novel syndrome distinct from amyotrophic lateral sclerosisIn: Brain: A Journal of Neurology Jg. 142 (2019) Nr. 8, S. 2230 - 2237
ISSN: 0006-8950; 1460-2156Online Volltext: dx.doi.org/ Online Volltext (Open Access) -
X-linked myotubular myopathy: A prospective international natural history studyIn: Neurology Jg. 92 (2019) Nr. 16, S. E1852 - E1867
ISSN: 1526-632X; 0028-3878Online Volltext: dx.doi.org/ Online Volltext (Open Access) -
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 - 86
ISSN: 1873-2364; 0960-8966Online Volltext: dx.doi.org/ (Open Access) -
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. 291
ISSN: 1745-6215Online Volltext: dx.doi.org/ (Open Access) -
Congenital Myopathies (CNM)In: Neuromuscular Disorders Jg. 28 (2018) Nr. SUPPL. 2, S. S71
ISSN: 0960-8966Online Volltext: dx.doi.org/ -
DMD Clinical Therapies IIn: Neuromuscular Disorders Jg. 28 (2018) Nr. SUPPL. 2, S. S65
ISSN: 0960-8966Online Volltext: dx.doi.org/ -
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. 40
ISSN: 1546-0096Online Volltext: dx.doi.org/ (Open Access) -
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes : A randomized controlled trialIn: Seizure Jg. 56 (2018) S. 115 - 120
ISSN: 1532-2688; 1059-1311Online Volltext: dx.doi.org/ (Open Access) -
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 - 143
ISSN: 2214-3602; 2214-3599Online Volltext: dx.doi.org/ (Open Access) -
In Memoriam : Professor Hermann DooseIn: Neuropediatrics Jg. 49 (2018) Nr. 4, S. 299 - 300
ISSN: 0174-304XOnline Volltext: dx.doi.org/ (Open Access) -
Isolated PREPL deficiency associated with congenital myasthenic syndrome-22In: Klinische Pädiatrie Jg. 230 (2018) Nr. 5, S. 281 - 283
ISSN: 1439-3824; 0300-8630Online Volltext: dx.doi.org/ -
Juvenile Myasthenia gravisIn: Aktuelle Neurologie Jg. 45 (2018) Nr. 4, S. 283 - 287
ISSN: 1438-9428; 0302-4350Online Volltext: dx.doi.org/ -
Mentoring in a medical faculty : A chance for organisational learningIn: International Journal of Learning and Change Jg. 10 (2018) Nr. 3, S. 198 - 219
ISSN: 1740-2883; 1740-2875Online Volltext: dx.doi.org/ -
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
ISSN: 0960-8966Online Volltext: dx.doi.org/ -
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. e0201004
ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access) -
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
ISSN: 0960-8966Online Volltext: dx.doi.org/ -
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 - 37
ISSN: 1554-8635; 1554-8627Online Volltext: dx.doi.org/ (Open Access) -
Transition von der Neuropädiatrie zur Neurologie bei neuromuskulären ErkrankungenIn: Der Nervenarzt Jg. 89 (2018) Nr. 10, S. 1123 - 1130
ISSN: 1433-0407; 0028-2804Online Volltext: dx.doi.org/ -
A rare cause of congenital ptosis with external ophthalmoplegia : case report and differential diagnosisIn: Neuromuscular Disorders Jg. 27 (2017) Nr. Suppl. 2, S. S243
ISSN: 0960-8966Online Volltext: dx.doi.org/ -
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
ISSN: 0960-8966Online Volltext: dx.doi.org/ -
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD) : a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialIn: The Lancet Jg. 390 (2017) Nr. 10101, S. 1489 - 1498
ISSN: 1474-547X; 0140-6736; 0023-7507; 0099-5355Online Volltext: dx.doi.org/ (Open Access) -
Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophyIn: Neuromuscular Disorders Jg. 27 (2017) Nr. 4, S. 307 - 314
ISSN: 1873-2364; 0960-8966Online Volltext: dx.doi.org/ (Open Access) -
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localizationIn: Brain: A Journal of Neurology Jg. 140 (2017) Nr. 11, S. 2838 - 2850
ISSN: 0006-8950; 1460-2156Online Volltext: dx.doi.org/ -
Correction : Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-IIIIn: PLoS ONE Jg. 12 (2017) Nr. 4, S. e0175611
ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access) -
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophyIn: Neuromuscular Disorders Jg. 27 (2017) Nr. 7, S. 631 - 634
ISSN: 1873-2364; 0960-8966Online Volltext: dx.doi.org/ -
Developing standardized corticosteroid treatment for Duchenne muscular dystrophyIn: Contemporary Clinical Trials Jg. 58 (2017) S. 34 - 39
ISSN: 1551-7144; 1559-2030Online Volltext: dx.doi.org/ -
Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-IIIIn: PLoS ONE Jg. 12 (2017) Nr. 3, S. e0173144
ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access) -
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
ISSN: 0960-8966Online Volltext: dx.doi.org/ -
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
ISSN: 0960-8966Online Volltext: dx.doi.org/ -
New myotubular myopathy classificationIn: Neuromuscular Disorders Jg. 27 (2017) Nr. Suppl. 2, S. S169
ISSN: 0960-8966Online Volltext: dx.doi.org/ -
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
ISSN: 0174-304X; 1439-1899; 0077-7811; 0028-3797Online Volltext: dx.doi.org/ -
Perinataler Schlaganfall und Sinusvenenthrombose : Klinik, Diagnostik und therapeutische AnsätzeIn: Monatsschrift für Kinderheilkunde Jg. 165 (2017) Nr. 7, S. 596 - 604
ISSN: 1433-0474; 0026-9298Online Volltext: dx.doi.org/ -
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
ISSN: 0960-8966Online Volltext: dx.doi.org/ -
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
ISSN: 0960-8966Online Volltext: dx.doi.org/ -
Spinale Muskelatrophie : Zeit für das Neugeborenenscreening?In: Der Nervenarzt Jg. 88 (2017) Nr. 12, S. 1358 - 1366
ISSN: 0028-2804; 1433-0407Online Volltext: dx.doi.org/ -
Therapie von Erkrankungen der neuromuskulären Endplatte im Kindes- und JugendalterIn: Nervenheilkunde Jg. 36 (2017) Nr. 1-2, S. 44 - 47
ISSN: 2567-5788 -
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophyIn: Pediatric Pulmonology Jg. 52 (2017) Nr. 4, S. 508 - 515
ISSN: 1099-0496; 8755-6863Online Volltext: dx.doi.org/ (Open Access) -
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: American Journal of Human Genetics Jg. 98 (2016) Nr. 2, S. 310 - 321
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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. 45
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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 - 781
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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. 8, S. 473 - 480
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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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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 für 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 Jg. 39 (2016) Nr. 3, S. 427 - 436
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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 - S157
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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. e0126528
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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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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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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: Front Genet Jg. 6 (2015) S. 21
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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: AJP Reports Jg. 4 (2014) Nr. 1, S. 017 - 022
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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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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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Time-dependent development of fibrosis and inflammation in Duchenne Muscular DystrophyIn: Neuromuscular Disorders Jg. 24 (2014) Nr. 9-10, S. 856 - 856
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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 - 77
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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 - 4615
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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. 1003430
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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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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 für 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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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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Migränevarianten und ungewöhnliche Manifestationen der Migräne im KindesalterIn: Schmerz Jg. 25 (2011) Nr. 2, S. 148 - 156
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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
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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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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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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 - 1506
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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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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 - S221
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EP.12 ER-stress and UPR-activation in immune-mediated necrotizing myopathyIn: Neuromuscular Disorders Jg. 31 (2021) Nr. Supplement 1, S. S53
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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. S143
ISSN: 0960-8966; 1873-2364Online Volltext: dx.doi.org/ (Open Access) -
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. S96
ISSN: 0960-8966; 1873-2364Online Volltext: dx.doi.org/ (Open Access) -
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. 83
ISSN: 0960-8966; 1873-2364Online Volltext: dx.doi.org/ -
Description of muscular involvement in a NEFL-caused neurological disease
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ISSN: 0960-8966; 1873-2364Online Volltext: dx.doi.org/ -
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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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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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 - S17
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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. 856
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ISSN: 0960-8966Online Volltext: dx.doi.org/ -
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 - 894
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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. 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) 1 CD-ROM
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P.82 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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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)