36 results on '"Saade D"'
Search Results
2. O16 New FDX2-loss of function phenotype presenting with blindness and myopathy with potential responsiveness to Co-enzyme Q10 analogs
3. P285 Bi-allelic variants in HMGCR cause limb girdle muscular dystrophy and further implicate the mevalonate pathway in muscle disease
4. P445 Electrophysiologic and histologic findings following intrathecal AAV9 mediated gene transfer for giant axonal neuropathy
5. P.33 Muscle ultrasound use in the initial diagnosis of childhood onset neuropathy and neuronopathy
6. O.10 First-in-human intrathecal gene transfer study for giant axonal neuropathy: Preliminary review of long-term efficacy and safety
7. O.06 Long term outcomes for X-Linked myotubular Myopathy (XLMTM) with gene replacement therapy, resamirigene bilparvovec: Preliminary results from ASPIRO
8. OUTCOME MEASURES
9. COLLAGEN RELATED MUSCLE DISEASES
10. CLINICAL TRIAL HIGHLIGHTS
11. COLLAGEN RELATED MUSCLE DISEASES
12. HEREDITARY NEUROPATHIES & ALS
13. CONGENITAL MYOPATHIES 1 – NEMALINE
14. HEREDITARY NEUROPATHIES & ALS
15. DISTAL MYOPATHIES
16. CONGENITAL MUSCULAR DYSTROPHY: LAMA2
17. NEW GENES AND DISEASES
18. O.9Dominant Collagen XII-related myopathy with a distal myopathy phenotype, amenable to treatment with allele-specific knockdown
19. P.382Recessive COL12A1 loss of function EDS/myopathy overlap syndrome: confirmation and expansion of a consistently severe phenotype
20. OUTCOME MEASURES: EP.326 Serum neurofilament light chain analysis in giant axonal neuropathy
21. CLINICAL TRIAL HIGHLIGHTS: O.1 ASPIRO gene therapy trial in X-linked myotubular myopathy (XLMTM): update on preliminary efficacy and safety findings
22. NEW THERAPEUTIC APPROACHES AND THEIR READOUT
23. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
24. CMT AND NEUROGENIC DISEASE
25. CONGENITAL MYOPATHIES: GENERAL AND RYR1
26. NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY
27. CONGENITAL MUSCULAR DYSTROPHIES
28. HEREDITARY NEUROPATHIES & ALS: P.107 Review of ophthalmologic findings following intrathecal gene transfer for giant axonal neuropathy
29. HEREDITARY NEUROPATHIES & ALS: P.108 First-in-human intrathecal gene transfer study for giant axonal neuropathy: Three-year interim evaluation of safety and efficacy
30. DISTAL MYOPATHIES: P.244SYNE1 cerebellar ataxia "plus" syndrome: characterizing the skeletal muscle and cardiopulmonary phenotype
31. Clinical summary of eight unrelated individuals with GMPPB mutations
32. G.P.276 - Clinical summary of eight unrelated individuals with GMPPB mutations
33. 491P PIEZO2 loss of function syndrome: a highly specific and recognizable phenotype.
34. 51P Clinical characterization of collagen XII-related disease caused by biallelic COL12A1 variants.
35. 08P SRPK3-TTN related myopathy: early clinical characteristics and muscle imaging findings.
36. CONGENITAL MUSCULAR DYSTROPHIES: P.329CALLISTO: a phase I open-label, sequential group, cohort study of pharmacokinetics and safety of omigapil in LAMA2 and COL6-related dystrophy patients.
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