Results 101 to 110 of about 1,977 (181)

Modeling the Budget Impact of Disease-Modifying Therapies in Infantile-Onset Spinal Muscular Atrophy. [PDF]

Clin Drug Investig
Abuloha S, Goodin A, Jiao T, Corti M, Svensson M.   +4 more
europepmc   +1 more source

From Genes to Function: Clinical Experience with the Effectiveness and Safety of Risdiplam and Nusinersen in Spinal Muscular Atrophy. [PDF]

Iran J Child Neurol
Sedighi P, Fayyazi A, Hosseini F, Karimi K, Esfahani H, Mahdi Hosseiny SM.   +5 more
europepmc   +1 more source

Tunable gene control via RNA splicing with a clinically approved small molecule. [PDF]

Nat Commun
Mendel M, Schwarz D, Sun T, Tan S, Franceschetti A, Majcher D, Lang S, Venetz D, Ratni H, Jagasia R, Ebeling M, Roudnicky F, Schukur L.   +12 more
europepmc   +1 more source

The U1 snRNP protein U1C and Helix H of U1 snRNA are critical for small molecule splicing modulator function. [PDF]

Nat Commun
Kuang Z, Kosmyna B, Li X, Tang Z, Shi S, Lambert K, Zhang W, Giovinazzo J, Effenberger KA, Sierra J, Ying L, Barraza SJ, Li W, Wang J, Trotta CR, Zhao R.   +15 more
europepmc   +1 more source

Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series. [PDF]

Ann Med
Guo X, Luo Y, Li M, Li C, Chang Z, Zhu S, Wang Q, Huang Y.   +7 more
europepmc   +1 more source

Risdiplam Add-On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi-Center Case Series. [PDF]

Muscle Nerve
Stoltenburg C, Goldhahn K, von Moers A, Kaindl AM, Weiß C.   +4 more
europepmc   +1 more source

An approach for the systematic profiling of drug-induced remodeling of RNA-RBP (RNA-binding protein) interactions. [PDF]

RSC Adv
Jiao Y, Zhao J, Fu B, Dong P, Qian X, Liu T, Qin W.   +6 more
europepmc   +1 more source

Risdiplam Impact in Treatment Naïve and Non-Naïve Pediatric and Adult Patients With Spinal Muscular Atrophy. [PDF]

Eur J Neurol
Yee POP, Ip HHN, Yu MKL, Cheng PK, Wong WHS, Ng PPH, Kwong NST, Lam P, Cheung MW, Tung A, Chan S, Ng S, Yeung WL, Wong S, Gao Y, Pang S, Chan SHS.   +16 more
europepmc   +1 more source

QSAR-Guided Virtual Screening and Molecular Dynamics Reveal Olaparib as a Repurposing Lead Against α-Synuclein Aggregation. [PDF]

Int J Mol Sci
Abdelsayed M, Boulaamane Y.
europepmc   +1 more source

Gene therapy benefits in a small cohort of symptomatic 5q spinal muscular atrophy patients and real world pediatric outcomes. [PDF]

J Pediatr (Rio J)
Santos ARBV, Ferreira LS, Santos TS, Mazzeu JF, Sorte NCAB.   +4 more
europepmc   +1 more source