Results 281 to 290 of about 116,027 (330)

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.

Lancet Neurology, 2021
BACKGROUND Spinal muscular atrophy type 1 is a motor neuron disorder resulting in death or the need for permanent ventilation by age 2 years. We aimed to evaluate the safety and efficacy of onasemnogene abeparvovec (previously known as AVXS-101), a gene ...
J. Day, R. Finkel, C. Chiriboga, A. Connolly, T. Crawford, B. Darras, S. Iannaccone, N. Kuntz, L. Pena, P. Shieh, E. Smith, J. Kwon, C. Zaidman, M. Schultz, D. Feltner, S. Tauscher‐Wisniewski, H. Ouyang, D. Chand, D. Sproule, T. Macek, J. Mendell   +20 more
semanticscholar   +1 more source

Spinal Muscular Atrophy

Continuum, 2020
This article provides an overview of the pathophysiology and clinical presentations of spinal muscular atrophy (SMA) and reviews therapeutic developments, including US Food and Drug Administration (FDA)-approved gene-targeted therapies and mainstays of supportive SMA care.Over the past decades, an understanding of the role of SMN protein in the ...
Haluk, Topaloglu, Nancy, Kuntz
  +6 more sources

Spinal muscular atrophy

Journal of Paediatrics and Child Health, 2018
Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. The SMN protein plays a critical role in spliceosome assembly and may have other cellular functions, such as mRNA transport ...
Eveline S, Arnold, Kenneth H, Fischbeck
openaire   +3 more sources

Spinal Muscular Atrophy: In the Challenge Lies a Solution.

Trends in Neurosciences, 2021
The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a highly challenging endeavor, but also led to one of the most successful stories in neurogenetics.
B. Wirth
semanticscholar   +1 more source

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.

Neuromuscular Disorders, 2021
Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome.
T. Dangouloff, E. Vrščaj, L. Servais, D. Osredkar   +3 more
semanticscholar   +1 more source

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial.

Lancet Neurology, 2021
BACKGROUND Spinal muscular atrophy is a rare, autosomal recessive, neuromuscular disease caused by biallelic loss of the survival motor neuron 1 (SMN1) gene, resulting in motor neuron dysfunction.
E. Mercuri, F. Muntoni, G. Baranello, R. Masson, O. Boespflug-Tanguy, Claudio Bruno, S. Corti, A. Daron, N. Deconinck, L. Servais, V. Straub, H. Ouyang, D. Chand, S. Tauscher‐Wisniewski, N. Mendonça, A. Lavrov   +15 more
semanticscholar   +1 more source

Spinal muscular atrophy

Seminars in Pediatric Neurology, 2002
Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a common recessive autosomal disorder and represents one of the most common genetic causes of death in childhood. The pathophysiology remains unknown, and no curative treatment is available so far.
Carmen, Cifuentes-Diaz, Tony, Frugier, Judith, Melki   +2 more
openaire   +2 more sources

Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment

European Journal of Neurology, 2022
Spinal muscular atrophy (SMA) is caused by reduced levels of survival of motor neuron (SMN) protein due to deletions and/or mutations in the SMN1 gene.
Eugenio Mercuri, G. Baranello, O. Boespflug-Tanguy, L. De Waele, N. Goemans, J. Kirschner, R. Masson, E. Mazzone, A. Pechmann, M. Pera, C. Vuillerot, S. Bader-Weder, M. Gerber, K. Gorni, J. Hoffart, H. Kletzl, Carmen Martín, T. McIver, R. Scalco, W. Yeung, L. Servais   +20 more
semanticscholar   +1 more source

Spinal muscular atrophy

Journal of Inherited Metabolic Disease, 1999
AbstractSpinal muscular atrophy is a common cause of disability in childhood and is characterized by weakness and wasting of voluntary muscle. It is frequently fatal. The gene for this disorder has been identified as the SMN gene and is part of a highly complex duplicated region of chromosome 5 that is subject to a high rate of gene deletion and gene ...
Petur Ludvigsson, Elias Olafsson, W. Allen Hauser   +2 more
openaire   +3 more sources

Childhood spinal muscular atrophy

2023
Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor neuron 1) gene on chromosome 5q13.2, which leads to a progressive degeneration of alpha motor neurons in the spinal cord and in motor nerve nuclei in the caudal brainstem.
David S, Younger, Jerry R, Mendell
openaire   +2 more sources