Results 121 to 130 of about 2,938 (199)

Camptocormia as a feature of Mc Ardle's disease: A case report. [PDF]

open access: yesMol Genet Metab Rep
Nicolas M   +7 more
europepmc   +1 more source

Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem" by Klein et al. [PDF]

open access: yesOrphanet J Rare Dis
Kruijshaar ME   +9 more
europepmc   +1 more source

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review. [PDF]

open access: yesJ Neuromuscul Dis
Labella B   +33 more
europepmc   +1 more source

Corrigendum: Epigenetic immune monitoring for COVID-19 disease course prognosis. [PDF]

open access: yesFront Immunol
Samans B   +9 more
europepmc   +1 more source

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. [PDF]

open access: yesEur J Neurol
Bisciglia M   +10 more
europepmc   +1 more source

A model to predict the 6-Minute Walk Distance in Pompe disease. [PDF]

open access: yesJ Neuromuscul Dis
El Kaïm A   +4 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy