Results 121 to 130 of about 1,718 (175)

A Chemically Induced CRISPR/dCas13^FCPF Platform for Precise and Programmable RNA Regulation. [PDF]

J Med Chem
Hasselbeck S, Wang J, Bai Z, Hüfner T, Hummer G, Grote P, Cheng X.   +6 more
europepmc   +1 more source

[Spinal muscular atrophy: Clinical and genetic aspects, and therapeutic alternatives]. [PDF]

Rev Med Inst Mex Seguro Soc
González-Morales IJ, Olivera-Bernal GC, León-González C DA, Rosas-Vargas H.   +3 more
europepmc   +1 more source

Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial. [PDF]

Nat Med
Kwon JM, Munell F, Le Goff L, Yuge K, Kato T, Cances C, De Waele L, Woodcock IR, Mercuri EM, Proud CM, Darras BT, Hayes LH, Oskoui M, Visootsak J, Williams G, Ilić A, Yang L, van der Pol WL.   +17 more
europepmc   +1 more source

Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes. [PDF]

Orphanet J Rare Dis
Martí Y, Gorni K, Kumari S, Mahajan A, Baranello G, Waele L, McGrattan KE.   +6 more
europepmc   +1 more source

Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program. [PDF]

Int J Neonatal Screen
Leanca MC, Onose G, Nicolae G, Neagu E, Vasile D, Bercu E, Balanescu OM, Capitanescu A, Munteanu C, Popescu C, Mirea A.   +10 more
europepmc   +1 more source

Presymptomatic Treatment of a Genetic Disease with a Small-Molecule Drug. [PDF]

N Engl J Med
Sumner CJ.
europepmc   +1 more source

Pioneering SMA therapies for all types: survival gains, cost dynamics, and performance-based agreements. [PDF]

Cost Eff Resour Alloc
Al-Jedai A, Al-Mudaiheem H, AlSakran A, Bashiri FA, Ghamdi F, Almuhaizea MA, AlSamman A, Awad N, Ojeil R.   +8 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

Risdiplam for spinal muscular atrophy.

Australian prescriber
openaire   +1 more source

Risdiplam in Presymptomatic Spinal Muscular Atrophy

New England Journal of Medicine
Risdiplam, an oral pre-messenger RNA splicing modifier, is an efficacious treatment for persons with symptomatic spinal muscular atrophy (SMA). The safety and efficacy of risdiplam in presymptomatic disease are unclear.We conducted an open-label study of daily oral risdiplam (with the dose adjusted to 0.2 mg per kilogram of body weight) in infants 1 ...
Michael Rabbia
exaly   +4 more sources