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Your search keyword '"Saade D"' showing total 36 results

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36 results on '"Saade D"'

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1. P444 Ophthalmologic findings following intrathecal AAV9 mediated gene transfer for Giant Axonal Neuropathy

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

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

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

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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