Spinal muscular atrophy - Open Access .click

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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 +3 more sources

Single‐Dose Gene‐Replacement Therapy for Spinal Muscular Atrophy

New England Journal of Medicine, 2017
J. Mendell +25 more
semanticscholar +3 more sources

Nusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy

New England Journal of Medicine, 2017
R. Finkel +397 more
semanticscholar +3 more sources

Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series

Journal of Medical Case Reports, 2022
Background Spinal muscular atrophy is a recessively inherited autosomal neuromuscular disorder, with characteristic progressive muscle weakness. Most spinal muscular atrophy cases clinically manifest during infancy or childhood, although it may first ...
Cempaka Thursina Srie Setyaningrum +6 more
doaj +1 more source

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study

Muscle and Nerve, 2023
NURTURE (NCT02386553) is an open‐label study of nusinersen in children (two SMN2 copies, n = 15; three SMN2 copies, n = 10) who initiated treatment in the presymptomatic stage of spinal muscular atrophy (SMA).
T. Crawford +24 more
semanticscholar +1 more source

Oral risdiplam for specific therapy in adult patients with 5q spinal muscular atrophy in the Moscow region [PDF]

Анналы клинической и экспериментальной неврологии, 2023
5q spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease characterized by gradual loss of motor neurons with progressive muscle weakness and atrophy.
Ekaterina S. Novikova
doaj +1 more source

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

Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy

Neural Regeneration Research, 2021
Infantile-onset spinal muscular atrophy is the quintessential example of a disorder characterized by a predominantly neurodegenerative phenotype that nevertheless stems from perturbations in a housekeeping protein.
Kishore Gollapalli, Jeong-Ki Kim, Umrao R Monani +2 more
doaj +1 more source

Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma)

Cureus, 2023
Spinal Muscular Atrophy (SMA) is a genetic disease that causes weakness and wasting in the voluntary muscles of infants and children. SMA has been the leading inherited cause of infant death.
Tolu Ogbonmide +7 more
semanticscholar +1 more source

Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy

Medicina, 2023
Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage, after the loading dose of nusinersen in different types of spinal muscular ...
Mihaela Badina +11 more
doaj +1 more source

3. good health
muscular atrophy, spinal
child

infant
animals
motor neurons

spinal muscular atrophies of childhood
infant, newborn
smn complex proteins