Results 111 to 120 of about 2,038 (184)

Synergistic Effect of an Antisense Oligonucleotide and Small Molecule on Splicing Correction of the Spinal Muscular Atrophy Gene

Neuroscience Insights
Spinal muscular atrophy (SMA) is treated by increasing the level of Survival Motor Neuron (SMN) protein through correction of SMN2 exon 7 skipping or exogenous expression of SMN through gene therapy.
Eric W Ottesen, Ravindra N Singh
doaj   +1 more source

ID182 Eficácia e efetividade do nusinersena, risdiplam e onasemnogeno abeparvoveque para o tratamento de atrofia muscular espinhal (AME) 5q tipos I e II em relação ao número de cópias do gene SMN2

Jornal de Assistência Farmacêutica e Farmacoeconomia
Introdução Atrofia muscular espinhal (AME 5q) é caracterizada pela degeneração dos neurônios motores inferiores que, consequentemente, leva à paralisia com atrofia muscular associada a mutações bialélicas do gene SMN1.
Roberto Lúcio Muniz Júnior, Álex Brunno do Nascimento Martins, Bárbara Rodrigues Alvernaz dos Santos, Ludmila Peres Gargano, Marcus Carvalho Borin, Marcus Carvalho Borin, Francisco de Assis Acurcio, Juliana Alvares-Teodoro, Augusto Afonso Guerra Júnior   +7 more
doaj   +1 more source

Evaluation of disease progression and response to therapy in a cohort of late childhood/adulthood SMA patients: Is there room for new markers? [PDF]

, 2023
LUPICA, Antonino
core  

“Not Only Has She Survived, But She Lives a Happy Life”: Parents’ Perspectives and Experiences of a Novel Disease-Modifying Therapy for Spinal Muscular Atrophy in Sweden [PDF]

The objective of this prospective cohort study was to explore parents' perspectives of patients' experiences of the first available novel disease-modifying therapy for SMA in Sweden.
Cortina-Borja, Mario, Kreicbergs, Ulrika, Landfeldt, Erik, Sejersen, Thomas, Udo, Camilla   +4 more
core  

Matched-pair analysis of motor outcomes in adults with spinal muscular atrophy on nusinersen vs. risdiplam. [PDF]

J Neurol
Svenja N, Benjamin S, Jaqueline L, Melina S, Refik P, Linda-Isabell S, Markus L, Jelena S, Cornelius D, Michael F, Christoph K, Tim H.   +11 more
europepmc   +1 more source

Risdiplam for spinal muscular atrophy

Australian Prescriber, 2022
openaire   +2 more sources

Neurodevelopmental Comorbidities in Early-Onset 5q-SMA Treated with Disease-Modifying Therapies: A Scoping Review [PDF]

Recent studies have reported possible neurodevelopmental comorbidities in some early onset 5q-spinal muscular atrophy (5q-SMA) patients treated with disease-modifying therapies (DMT).
Konop, Carson
core   +1 more source

Effectiveness of Risdiplam Treatment in Adult Patients With Spinal Muscular Atrophy Type IIb-III. [PDF]

Rev Neurol
García Estévez DA.
europepmc   +1 more source

Safety and effectiveness of risdiplam in adults with spinal muscular atrophy: a systematic review. [PDF]

J Neurol
Alonge P, Urbano G, Gadaleta G.
europepmc   +1 more source

Pharmacokinetics of therapies approved for spinal muscular atrophy: A narrative review of current evidence. [PDF]

J Int Med Res
Sel EK, Gkrinia EMM, Roncato R, Vitezić D, Janković S, Belančić A, EACPT Early Career Clinical Pharmacologists Working Group.   +6 more
europepmc   +1 more source