25 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. P444 Ophthalmologic 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. P.33 Muscle ultrasound use in the initial diagnosis of childhood onset neuropathy and neuronopathy
8. O.06 Long term outcomes for X-Linked myotubular Myopathy (XLMTM) with gene replacement therapy, resamirigene bilparvovec: Preliminary results from ASPIRO
9. OUTCOME MEASURES: EP.326 Serum neurofilament light chain analysis in giant axonal neuropathy
10. COLLAGEN RELATED MUSCLE DISEASES: EP.63 Neonatal clinical features distinguishing COL6-related dystrophy and TTN-related myopathy
11. COLLAGEN RELATED MUSCLE DISEASES: EP.60 Muscle ultrasound in COL6-related muscular dystrophy: patterns and progression
12. CLINICAL TRIAL HIGHLIGHTS: O.1 ASPIRO gene therapy trial in X-linked myotubular myopathy (XLMTM): update on preliminary efficacy and safety findings
13. HEREDITARY NEUROPATHIES & ALS: P.107 Review of ophthalmologic findings following intrathecal gene transfer for giant axonal neuropathy
14. HEREDITARY NEUROPATHIES & ALS: P.108 First-in-human intrathecal gene transfer study for giant axonal neuropathy: Three-year interim evaluation of safety and efficacy
15. CONGENITAL MYOPATHIES 1 – NEMALINE: P.19 ACTA1-related myopathies: expanding the phenotype to include recognizable asymmetries of muscle involvement
16. P.382Recessive COL12A1 loss of function EDS/myopathy overlap syndrome: confirmation and expansion of a consistently severe phenotype
17. CONGENITAL MUSCULAR DYSTROPHY: LAMA2: P.329CALLISTO: A phase I open-label, sequential group, cohort study of pharmacokinetics and safety of omigapil in LAMA2 and COL6-related dystrophy patients
18. DISTAL MYOPATHIES: P.244SYNE1 cerebellar ataxia "plus" syndrome: characterizing the skeletal muscle and cardiopulmonary phenotype
19. NEW GENES AND DISEASES: O.17Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
20. O.9Dominant Collagen XII-related myopathy with a distal myopathy phenotype, amenable to treatment with allele-specific knockdown
21. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.243Taking on the titin: semitendinosus muscle involvement as a diagnostic marker of early onset recessive TTN-related myopathy
22. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.242Neonatal presentations of recessive TTN-related myopathy: an emerging distinct clinical phenotype
23. NEW THERAPEUTIC APPROACHES AND THEIR READOUT: O.19First-in-human intrathecal gene transfer study for giant axonal neuropathy: review of safety, immunologic responses and interim analysis of efficacy
24. CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.40The distinct clinical phenotype of PIEZO2 loss of function
25. G.P.276 - Clinical summary of eight unrelated individuals with GMPPB mutations
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