318 results on '"von der Hagen, Maja"'
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2. Geschlechtsspezifische Ergebnisse des Dresdner Kinder- und Jugendkopfschmerzprogrammes DreKiP
3. Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life
4. ‘Reading the palm’ – A pilot study of grip and finger flexion strength as an outcome measure in 5q spinal muscular atrophy
5. Handlungsempfehlungen nach der Leitlinie Klassifikation und Diagnostik der Mikrozephalie
6. The expanding clinical and genetic spectrum of DYNC1H1-related disorders
7. Functional improvement in children and adolescents with primary headache after an interdisciplinary multimodal therapy program: the DreKiP study
8. Sex and age-related patterns in pediatric primary headaches: observations from an outpatient headache clinic.
9. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.
10. Olfactory function after mild traumatic brain injury in children—a longitudinal case control study
11. Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy
12. Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.
13. Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis
14. Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome
15. The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification
16. 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.
17. Safety and efficacy of recanalization therapy in pediatric stroke: A systematic review and meta-analysis
18. Deep Brain Stimulation in a Patient with TSPOAP1‐Biallelic Variant of Autosomal‐Recessive Dystonia
19. The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series
20. Influence of chronic diseases on the olfactory function in children
21. Differenzialdiagnose der muskulären Hypotonie bei Neugeborenen
22. 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 trial
23. Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany
24. Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
25. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
26. Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture
27. Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration
28. Neuropädiatrische Differenzialdiagnostik der Mikrozephalie im Kindesalter
29. A five year-old child with clear cell petro-clival meningioma: case report with clinical and histopathological long-term follow-up
30. Palliativversorgung von lebenslimitierenden neurologischen Erkrankungen in Deutschland am Beispiel der Muskeldystrophie Duchenne
31. Additional file 1 of Functional improvement in children and adolescents with primary headache after an interdisciplinary multimodal therapy program: the DreKiP study
32. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy
33. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
34. An interdisciplinary outpatient therapy program for children and adolescents with headache - real world data
35. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
36. Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy
37. Autologous bone flap cranioplasty following decompressive craniectomy is combined with a high complication rate in pediatric traumatic brain injury patients
38. Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure
39. Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial
40. Evaluation of Metabolic Effects of Nusinersen in Patients with Spinal Muscular Atrophy
41. Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7‐related osteopetrosis
42. Genomic profiling in neuronal dyneinopathies and updated classifications
43. Genomic profiling in neuronal dyneinopathies and updated classifications
44. Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature
45. Evaluation of Metabolic Effects of Nusinersen in Patients with Spinal Muscular Atrophy.
46. Feedback-Based Learning of Timing in Attention-Deficit/Hyperactivity Disorder and Neurofibromatosis Type 1
47. Gene-Targeted Therapies and Palliative Care in Children with Spinal Muscular Atrophy Type I: No Intrinsic Contradiction
48. genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysisweakness
49. The clinical-phenotype continuum inDYNC1H1-related disorders-genomic profiling and proposal for a novel classification
50. Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy – A patients’ perspective
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