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346 results on '"Groeschel, Samuel"'

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1. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

3. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

4. Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

6. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

10. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

13. Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries

14. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

15. The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophy.

18. Validation of GMFC-MLD scale as a measure of gross motor function in metachromatic leukodystrophy

19. A phase 2 study assessing TAK-611150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (SHP611–201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD)

22. Better Fiber ODFs from Suboptimal Data with Autoencoder Based Regularization

29. Fast and Accurate Multi-tissue Deconvolution Using SHORE and H-psd Tensors

32. Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy.

34. Clinical significance of diffusion tensor imaging in metachromatic leukodystrophy.

35. Corrigendum to “Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges” Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282

36. Multimodal Outcome at 7 Years of Age after Neonatal Arterial Ischemic Stroke

39. Atidarsagene autotemcel, a European post-regulatory approval model for delivery of autologous hematopoietic stem cell gene therapy products via a network of qualified treatment centers (QTCs)

40. Developmental delay can precede neurologic regression in metachromatic leukodystrophy

42. Auto-calibrating Spherical Deconvolution Based on ODF Sparsity

44. Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges

45. Human organoid model of PCH2a recapitulates brain region-specific pathology

47. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

48. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

49. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

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