Etiqueta: Orphanet Journal of Rare Diseases
-
Test-retest reliability and associations of strength and functional outcome measures in adults with spinal muscular atrophy
Background Results Conclusions
-
Test-retest reliability and associations of strength and functional outcome measures in adults with spinal muscular atrophy
Background Results Conclusions
-
De novo RYR1 variant c.7108_7109delinsAAGCC (p.Gly2370delinsLysPro) causes life-threatening malignant hyperthermia: reclassification from VUS to pathogenic
Background Methods Results Conclusion …
-
De novo RYR1 variant c.7108_7109delinsAAGCC (p.Gly2370delinsLysPro) causes life-threatening malignant hyperthermia: reclassification from VUS to pathogenic
Background Methods Results Conclusion …
-
Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN): integrating epidemiological insights with diagnostic and therapeutic progress
Background Methods Results Conclusions …