Results 91 to 100 of about 1,977 (181)

Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment

Brain and Development
The clinical use of three disease-modifying drugs approved in Japan for the treatment of spinal muscle atrophy (SMA) has increased. Therefore, there is an increasing need for biomarkers to evaluate therapeutic interventions.Individuals were treated with risdiplam (25 patients, male:female =12:13) and evaluated before starting the medication and after 1,
Tamaki, Kato, Noriko, Otsuki, Mamoru, Yokomura, Naoko, Shima, Kota, Kajima, Moeka, Shioya, Hayato, Suzuki, Hidetaka, Wakabayshi, Kayoko, Saito   +8 more
openaire   +2 more sources

JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam [PDF]

Risdiplam is a once-daily oral, survival of motor neuron 2 (SMN2) splicing modifier approved for the treatment of spinal muscular atrophy (SMA). JEWELFISH (NCT03032172) investigated the safety, tolerability, pharmacokinetics (PK), and PK/pharmacodynamic (
Fischer, Dirk, Bruno, Claudio, Chiriboga, Claudia A, Martin, Carmen, Muntoni, Francesco, Duong, Tina, Mercuri, Eugenio, Fontoura, Paulo, Kletzl, Heidemarie, Jaber, Birgit, Scalco, Renata S, Gorni, Ksenija, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Carruthers, Imogen, JEWELFISH Study Group   +15 more
core   +1 more source

Risdiplam for spinal muscular atrophy

Australian Prescriber, 2022
openaire   +3 more sources

SMA tedavisinde kullanılan risdiplam molekülünün kısa nükleik asit dizileriyle etkileşimlerinin hesapsal yöntemlerle incelenmesi

Bu tez çalışmasında, SMA hastalığının tedavisinde kullanılan Risdiplam molekülü ile SMN2 genine karşılık gelen pre-mRNA Exon7 sekansının dinükleotidlere bölünerek (GG, UU, AA, UA, AG, GA, AC, CA, UC, GU, AU) oluşan 11 Ribodinükleotit arasındaki ...
Açar Selçuki, Nursel
core  

Generative Chemistry Platform for Small Molecules Targeting RNA: A Case Study for Chemical Optimization. [PDF]

Comput Struct Biotechnol J
Allen TEH, Boyd SM, Bonnet M, Khan RT.
europepmc   +1 more source

Real-world 12-month outcomes of Risdiplam in spinal muscular atrophy types 2 and 3: A Brazilian cohort. [PDF]

Clinics (Sao Paulo)
Camelo CG, Mendonça RH, Moreno CAM, Polido GJ, Carvalho EV, Teixeira WCDS, Hayashi DS, Brito JJDC, Matsui Junior C, Zanoteli E.   +9 more
europepmc   +1 more source

Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances. [PDF]

Ther Adv Neurol Disord
René CA, Parks RJ.
europepmc   +1 more source

Ceftriaxone-Resistant <i>Escherichia coli</i> Sepsis in an Infant With Spinal Muscular Atrophy Type 1 Receiving Risdiplam: A Case Report. [PDF]

Clin Case Rep
Zetawi M, Shoman R, Afana A, Aldarak S, Draidi R, AbuBaha B, Jaradat R, Khouli F, Salameh H.   +8 more
europepmc   +1 more source

Spinal muscular atrophy in the disease-modifying therapy era: successes, limitations and future directions. [PDF]

Front Mol Med
Sexton MM, Crow EW, Peng CA.
europepmc   +1 more source

Motor function score changes in severe 5q spinal muscular atrophy during risdiplam treatment: an observational longitudinal nationwide cohort study. [PDF]

EClinicalMedicine
Vermeer LM, Asselman FL, van Eijk RPA, Cuppen I, van der Woude DR, Visser-de Heus BMHEA, Hogervorst SMJ, Ruyten TJ, Bartels B, Wadman RI, van der Pol WL.   +10 more
europepmc   +1 more source