Results 101 to 110 of about 2,700 (197)

Thrombotic Microangiopathy as an Emerging Complication of Viral Vector-Based Gene Therapy. [PDF]

Gene therapy has brought tremendous hope for patients with severe life-threatening monogenic diseases. Although studies have shown the efficacy of gene therapy, serious adverse events have also emerged, including thrombotic microangiopathy (TMA ...
Desguerre, I., El Sissy, C., Fakhouri, F., Frémeaux-Bacchi, V., Schwotzer, N., Servais, L.   +5 more
core   +2 more sources

Promoting expression in gene therapy: more is not always better

EMBO Molecular Medicine
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by loss-of-function of SMN1. SMA is characterized by degeneration of motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy.
Maria M Zwartkruis, Ewout JN Groen
doaj   +1 more source

Onasemnogene Abeparvovec-xioi: World’s most expensive and approved therapy for spinal muscular atrophy

, 2021
Aslam Pathan, Vinod Bairagi
openalex   +1 more source

Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence

Drug Design, Development and Therapy, 2022
Helgi Thor Hjartarson,1 Kristofer Nathorst-Böös,1 Thomas Sejersen1,2 1Department of Neuropediatrics, Astrid Lindgren Children´s Hospital, Karolinska University Hospital, Stockholm, Sweden; 2Department of Women’s and Children’s Health, Karolinska ...
Hjartarson HT, Nathorst-Böös K, Sejersen T   +2 more
doaj  

Treatment strategies for patients with spinal muscular atrophy [PDF]

peer ...
De Waele, Liesbeth, Servais, Laurent
core   +2 more sources

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data [PDF]

, 2022
Judit Erdös, Claudia Wild
openalex   +1 more source

PP153 Efficacy And Safety of Onasemnogene Abeparvovec For The Treatment Of Patients With Spinal Muscular Atrophy Type 1: Meta-Analysis [PDF]

, 2023
Stéfani Sousa Borges, Brígida Dias Fernandes, Fernanda Luciano Rodrigues, Bárbara Krug, Hérica Núbia Cardoso Cirilo, Ida Vanessa Döederlein Schwartz, Lívia Fernandes Probst, Ivan Ricardo Zimmermann   +7 more
openalex   +1 more source

A consensus survey of neurologists and clinical geneticists on spinal muscular atrophy treatment in Singapore

Annals, Academy of Medicine, Singapore
Just a decade ago, spinal muscular atrophy (SMA) was considered a debilitating, progressive neuromuscular disease that inevitably led to chronic disability and a shortened lifespan.
Jocelyn Yi Xiu Lim, Furene Sijia Wang, Simon Robert Ling, Stacey Kiat Hong Tay   +3 more
doaj   +1 more source

Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy

International Journal of General Medicine, 2022
Leigh Ramos-Platt,1 Lauren Elman,2 Perry B Shieh3 1Department of Pediatrics, Keck School of Medicine, University of Southern California and Children’s Hospital of Los Angeles, Los Angeles, CA, USA; 2Department of Neurology, University of Pennsylvania ...
Ramos-Platt L, Elman L, Shieh PB
doaj  

Newborn screening for spinal muscular atrophy: Variations in practice and early management of infants with spinal muscular atrophy in the United States [PDF]

In the United States (U.S.), newborn screening (NBS) for spinal muscular atrophy (SMA) is implemented by individual states. There is likely variation in the practice patterns of state NBS programs and among the providers caring for newborns with SMA ...
Crockett, Cameron D, Goedeker, Natalie, Tabatabai, Grace, Wedge, Ethan, Zaidman, Craig M   +4 more
core   +2 more sources