Results 11 to 20 of about 72,020 (228)
Orphanet Journal of Rare Diseases, 2011 Abstract Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. Estimated incidence is 1 in 6,000 to 1 in 10,000 live births and carrier frequency of 1/40-1/60.
D'Amico, Adele +3 more
openaire +7 more sources
Neurotherapeutics, 2008 Spinal muscular atrophy (SMA) is a potentially devastating and lethal neuromuscular disease frequently manifesting in infancy and childhood. The discovery of the underlying mutation in the survival of motor neurons 1 (SMN1) gene has accelerated preclinical research, leading to treatment targets and transgenic mouse models, but there is still no ...
Petra Kaufmann, Maryam Oskoui
openaire +6 more sources
Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment
International Journal of Molecular Sciences, 2023 Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance. The first cases of SMA were reported by Werdnig in 1891.
H. Nishio +5 more
semanticscholar +1 more source
Neurologic Clinics, 2015 Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene.
Stephen J. Kolb, John T. Kissel
openaire +4 more sources
Base editing rescue of spinal muscular atrophy in cells and in mice
Science, 2023 Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss.
Mandana Arbab +16 more
semanticscholar +1 more source
Nature Network Boston, 2022 Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for ...
K. Strauss +20 more
semanticscholar +1 more source
Advances and limitations for the treatment of spinal muscular atrophy
BMC Pediatrics, 2022 Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein.
J. Day +6 more
semanticscholar +1 more source
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
Annals of Clinical and Translational Neurology, 2022 To provide a greater understanding of the tolerability, safety and clinical outcomes of onasemnogene abeparvovec in real‐world practice, in a broad population of infants with spinal muscular atrophy (SMA).
Arlene M. D'Silva +13 more
semanticscholar +1 more source
Neurological Research and Practice, 2022 Background Major efforts have been made in the last decade to develop and improve therapies for proximal spinal muscular atrophy (SMA). The introduction of Nusinersen/Spinraza™ as an antisense oligonucleotide therapy, Onasemnogene abeparvovec/Zolgensma ...
S. Jablonka, Luisa Hennlein, M. Sendtner
semanticscholar +1 more source
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]
, 2016 Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J. +9 more
core +7 more sources