Results 81 to 90 of about 1,505 (151)

Ataluren, a New Therapeutic for Alpha-1 Antitrypsin–Deficient Individuals with Nonsense Mutations [PDF]

American Journal of Respiratory and Critical Care Medicine, 2018
Emer P. Reeves, Ciara A. O’Dwyer, Danielle M. Dunlea, Mark R. Wormald, Padraig Hawkins, Mohammad Alfares, Darrell N. Kotton, Steven M. Rowe, Andrew A. Wilson, Noel G. McElvaney   +9 more
openaire   +2 more sources

Ion-Channel-Mediated Drug Repurposing Opportunities Validated by Single-Cell Perturbation in Colorectal Cancer. [PDF]

Int J Mol Sci
Dong Z, Meng X, Wang L.
europepmc   +1 more source

Genetic, Clinical, and Management Characteristics of Duchenne Muscular Dystrophy in Saudi Arabia. [PDF]

Healthcare (Basel)
AlSaman AS, Ghamdi FA, Bamaga AK, AlShaikh N, Al Muqbil M, Muthaffar O, Bashiri FA, Ali B, Qashqari H, Heider E, Itani A, Alshahrani AA, Al Muhaizea MA.   +12 more
europepmc   +1 more source

Established and emerging non-cellular therapies in inherited bone marrow failure syndromes. [PDF]

Front Immunol
Janczar S, Urbański B, Ussowicz M, Mlynarski W.   +3 more
europepmc   +1 more source

PTC124 promotes mutation site-dependent readthrough of STK11 nonsense mutations and restores tumor suppressor function. [PDF]

BBA Adv
Hung CH, Wang HH, Cheng YT, Chen JY, Lin KY, Chen ST, Pan TY, Lin HJ, Chen CC, Cai BH.   +9 more
europepmc   +1 more source

Duchenne Muscular Dystrophy: Contemporary Therapeutic Options and Real-World Challenges in Treatment Selection. [PDF]

Muscles
Pesco MT, Öztürk GZ, Bhadola SC, Chrzanowski SM, Gushchina LV, D'Ambrosio ES.   +5 more
europepmc   +1 more source

Patient reported outcome measures in spinal muscular atrophy and duchenne muscular dystrophy: review of instruments and their inclusion in clinical and regulatory processes. [PDF]

Neurol Sci
Malandrini F, Spataro C, Meregaglia M, Sansone V, D'amico A, Scopinaro A, Ciani O.   +6 more
europepmc   +1 more source

Comparative evaluation of TRIDs : a strategy to improve treatments. [PDF]

J Transl Med
Hariss F, Spelier S, Damy L, Pacheco CS, Houpe L, Leroy C, Thuru X, Becq F, Lejeune F.   +8 more
europepmc   +1 more source

Coverage with evidence development for medicines with insufficient evidence of clinical benefit: experience from the Netherlands. [PDF]

Int J Technol Assess Health Care
Versteeg JW, Stam N, Mantel-Teeuwisse AK, Timmers L, Goettsch W, Leopold C.   +5 more
europepmc   +1 more source

A Translational Roadmap for Neurological Nonsense Mutation Disorders. [PDF]

Int J Mol Sci
Li J, Zhu Z, Xu S.
europepmc   +1 more source