20 results on '"Saker, Safaa"'
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2. Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene
3. Pharmacometabolomics applied to low‐dose interleukin‐2 treatment in amyotrophic lateral sclerosis
4. Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
5. Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene
6. Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene
7. Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis
8. Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant
9. Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene
10. Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene
11. The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis
12. Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis
13. Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene
14. Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene
15. Myocapture: a large-scale sequencing project to identify novel genes for myopathies
16. Analyse intégrée du grand projet de séquençage MYOCAPTURE d’identification de nouveaux gènes de myopathies
17. IMMUNO-MODULATION IN AMYOTROPHIC LATERAL SCLEROSIS - A PHASE II STUDY OF SAFETY AND ACTIVITY OF LOW DOSE INTERLEUKIN-2 (IMODALS study) (S3.006)
18. The EuroBioBank Network : ten years of hands-on experience of collaborative, transnational biobanking for rare diseases
19. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
20. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
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