16 results on '"Schara-Schmidt, U."'
Search Results
2. P36 Givinostat in Duchenne muscular dystrophy: effect on disease milestones
3. P206 Impaired neurodevelopment in children with 5q-SMA - 2 years after newborn screening
4. P428 Biochemical changes in chorionic villi of LAMA2-patients resemble muscle relevant disease processes
5. O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
6. P294 A comprehensive study of the inflammatory signature in sarcoglycanopathies
7. P405 First clinical and myopathological description of a congenital myopathy based on a homozygous variant in TNNI2
8. P171 LiBi-NMD: liquid biopsies in neuromuscular diseases – the underrated value of white blood cells
9. VP.20 Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
10. P.04 New developments and data highlights in the international myotubular and centronuclear myopathy patient registry
11. P.28 Introduction of 12 novel pathogenic DMD variants, associated phenotypes and studies of dystrophin and MAST1 abundances
12. VP.17 Long-term effect of nusinersen treatment on motor, respiratory and bulbar function in children with SMA type 1 - a 3-year SMArtCARE registry study
13. DMD - BIOMARKERS
14. NEW GENES AND DISEASES
15. CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES
16. AUTOIMMUNE & INFLAMMATORY NMD
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.