Results 91 to 100 of about 2,012 (138)

Biphasic SMN condensates safeguard stress-induced cytoplasmic mislocalization of splicing RNPs. [PDF]

Cell Mol Life Sci
Riedel YL, Dressler J, Schilling MT, Gruss OJ.   +3 more
europepmc   +1 more source

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

Immune Cell-Specific SMN Expression and Sustained Immune Alterations in Treated Spinal Muscular Atrophy. [PDF]

J Clin Invest
Tapken I, Rahmel-Stein K, Ehlers C, Cieri F, Detering NT, Schüning T, Bjelica B, Mindermann C, Neuhoff S, Schmitt LI, Leo M, Hagenacker T, Illsinger S, Di Schiavi E, Graalmann T, Petri S, Kalinke U, Claus P.   +17 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

Serum p-tau181 and p-tau217 levels in adolescents and adults with 5q spinal muscular atrophy. [PDF]

J Neurol
Stapf CD, Uzelac Z, Iterbeke L, Guthknecht A, Barba L, Strube D, Kölsch A, Kleeberg K, Kendzierski T, Roos A, Steinacker P, Abu-Rumeileh S, Claeys KG, Weishaupt J, Mensch A, Otto M.   +15 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

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

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