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338 results on '"Blaschek, Astrid"'

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1. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

2. Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

3. Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial

4. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

8. Rituximab treatment in pediatric-onset multiple sclerosis

9. Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome

10. Long-Term Socioeconomic and Neurologic Outcome for Individuals with Childhood-Onset Multiple Sclerosis.

11. Monogenic variants in dystonia: an exome-wide sequencing study

12. High association of MOG-IgG antibodies in children with bilateral optic neuritis

13. Instrumented Balance Error Scoring System in Children and Adolescents—A Cross Sectional Study

14. Rituximab treatment in pediatric‐onset multiple sclerosis

16. 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

20. High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy

25. MRI of the first event in pediatric acquired demyelinating syndromes with antibodies to myelin oligodendrocyte glycoprotein

29. Impaired Brain Growth in Myelin Oligodendrocyte Glycoprotein Antibody–Associated Acute Disseminated Encephalomyelitis

31. Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany

33. Improvements in Walking Distance during Nusinersen Treatment : A Prospective 3-year SMArtCARE Registry Study

35. MR imaging in children with transverse myelitis and acquired demyelinating syndromes

41. Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?

42. [Untitled]

43. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy

46. 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

48. Neugeborenenscreeningprogramm für die spinale Muskelatrophie

49. Oligoclonal bands predict multiple sclerosis in children with optic neuritis

50. Challenges in Establishing the Diagnosis of PRRT2‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.

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