Results 141 to 150 of about 3,107 (205)

Neuromuscular diseases: genomics-driven advances

Genomics & Informatics
Neuromuscular diseases (NMDs) are a group of rare disorders characterized by significant genetic and clinical complexity. Advances in genomics have revolutionized both the diagnosis and treatment of NMDs. While fewer than 30 NMDs had known genetic causes
Anna Cho
doaj   +1 more source

Patient and Caregiver Outcomes After Onasemnogene Abeparvovec Treatment: Findings from the Cure SMA 2021 Membership Survey. [PDF]

Adv Ther, 2023
Toro W, Yang M, Georgieva M, Anderson A, LaMarca N, Patel A, Akbarnejad H, Dabbous O.   +7 more
europepmc   +1 more source

Gene therapy: A Revolution in Medicine or a Risky Game with our DNA? [PDF]

Introduction: The aim of this review is to provide an overview of the applications of gene therapies in various diseases and to highlight areas where further research is needed.
Długozima, Patrycja, Grywińska, Weronika, Grzeszczuk, Paulina, Głowacka, Aleksandra, Kalisz, Agnieszka, Kozakiewicz, Julia, Kościelecki, Kamil, Mączewska, Klaudia, Okońska, Aleksandra, Skorulska, Iwona   +9 more
core   +1 more source

Therapeutic Efficacy and Safety of onasemnogene abeparvovec Gene Therapy for Spinal Muscular Atrophy Type 1: Updated Systematic Review with Meta-Analysis [PDF]

Sarah Mohamed Alfaqaih, George Hanen, Hazem E. Mohammed, Mohamed Nasser, Mohamed E. Haseeb, Hatem Yaser, Sameer Yaser, Mohamed Khalafalla Darwish   +7 more
openalex   +1 more source

P07 Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy (SMA): from bench to bedside [PDF]

, 2020
P. Kaufmann, K. Foust, Jonathan Loukes, Jerry R. Mendell   +3 more
openalex   +1 more source

Cost-Effectiveness of Onasemnogene Abeparvovec Compared With Nusinersen and Risdiplam in Patients With Spinal Muscular Atrophy Type 1 in Brazil [PDF]

Brígida Dias Fernandes, Fernanda d’Athayde Rodrigues, Hérica Núbia Cardoso Cirilo, Stéfani Sousa Borges, Bárbara Krug, Lívia Fernandes Probst, Ivan Ricardo Zimmermann   +6 more
openalex   +1 more source

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

6ER-007 Real-world effectiveness of gene therapy onasemnogene abeparvovec (Zolgensma) for spinal muscular atrophy: a review [PDF]

, 2022
AC Martins De Figueiredo, Rui Pedro Marques, AF Cosme Silva, AP Mecheiro De Almeida Martins Silvestre Correia   +3 more
openalex   +1 more source

Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1: Pulmonary and Ventilatory Findings from the Pivotal Phase 3 US Study (STR1VE) [PDF]

, 2020
Richard Shell, John Day, Claudia A. Chiriboga, Thomas O. Crawford, Basil T. Darras, Richard S. Finkel, Anne M. Connolly, Susan Iannaconne, N. Kuntz, Loren D.M. Peña, Perry B. Shieh, Edward C. Smith, J.M. Kwon, Craig M. Zaidman, Megan L. Schultz, Douglas E. Feltner, Sitra Tauscher‐Wisniewski, Francis G. Ogrinc, P. Thomasma, Haojun Ouyang, Thomas A. Macek, Elaine Kernbauer, Douglas M. Sproule, J. Mendell   +23 more
openalex   +1 more source

Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam. [PDF]

Acta Myol, 2022
Tosi M, Catteruccia M, Cherchi C, Mizzoni I, D'Amico A.   +4 more
europepmc   +1 more source