Results 21 to 30 of about 121,613 (384)
PLoS ONE, 2022 BackgroundThe therapeutic landscape for spinal muscular atrophy has changed in the last few years, encompassing respiratory/motor function and life expectancy benefits.
Gustavo Saposnik +7 more
doaj +2 more sources
Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening—A Systematic Review
Genes, 2023 Background: In spinal muscular atrophy, clinical trial results indicated that disease-modifying treatments are highly effective when given prior to symptom onset, which has prompted newborn screening programs in growing number of countries.
Karolina Aragon-Gawińska +3 more
semanticscholar +1 more source
Нервно-мышечные болезни, 2020 The spinal and bulbar muscular atrophy is a slowly progressive X-linked polysystemic disease associated with polyglutamine expansion in the androgen receptor gene. The mutant protein exhibits toxic properties towards neurons and myocytes.
E. O. Ivanova +2 more
doaj +1 more source
BONE HEALTH AND GROWTH IN SPINAL MUSCULAR ATROPHY TYPE 2 AND 3
İstanbul Tıp Fakültesi Dergisi, 2022 Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with bone metabolism and physical growth rates in patients diagnosed with spinal muscular atrophy ...
Osman Kipoğlu +7 more
doaj +1 more source
Nature Medicine, 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
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 +2 more sources
Risdiplam in Type 1 Spinal Muscular Atrophy.
New England Journal of Medicine, 2021 BACKGROUND Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam is an orally administered, small molecule that modifies SMN2 pre-messenger
G. Baranello +16 more
semanticscholar +1 more source
Safety and Tolerability of Strength Training in Spinal and Bulbar Muscular Atrophy: A Case Report
Journal of Rehabilitation Medicine - Clinical Communications, 2022 Objective: Spinal and bulbar muscular atrophy is characterized by slow-progressive muscle weakness, decreased functional performance and falls. Research into the use of exercise in spinal and bulbar muscular atrophy has shown equivocal to negative ...
Vincent Shieh +7 more
doaj +1 more source
JAMA Neurology, 2021 Key Points Question What are the long-term safety and efficacy of onasemnogene abeparvovec in infants with spinal muscular atrophy type 1? Findings In this ongoing, long-term follow-up safety study of 13 infants with symptomatic spinal muscular atrophy ...
J. Mendell +11 more
semanticscholar +1 more source
Нервно-мышечные болезни, 2022 This study presents the structure and population data of spinal muscular atrophy 5q in the Republic of North Ossetia – Alania. The number of newborns for the period 2000–2020 was 195 954, and the prevalence of spinal muscular atrophy 5q among newborns ...
I. S. Tebieva +4 more
doaj +1 more source