Results 31 to 40 of about 2,169 (197)
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study [PDF]
, 2022 Background: ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIREFISH ...
Cances, Claude +13 more
core +1 more source
Frontiers in Neurology, 2022 Spinal muscular atrophy (SMA) is a rare genetic disease that results in progressive neuromuscular weakness. Without therapy, the most common form of the disease, type 1, typically results in death or chronic respiratory failure in the first 2 years of ...
Carmen Leon-Astudillo +2 more
doaj +1 more source
Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy. [PDF]
JCI InsightSpinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of survival motor neuron (SMN) protein. Several therapeutic approaches boosting SMN are approved for human patients, delivering remarkable improvements in lifespan and symptoms.
Genovese F +17 more
europepmc +3 more sources
Process for the preparation of amorphous form of Risdiplam [PDF]
, 2023 The present application relates to a process for the preparation of an amorphous of 7-(4,7-diazaspiro[2.5]octan-7-yl)-2-(2,8-dimethylimidazo[1,2-b]pyridazin-6-yl)pyrido-4H-[1,2-a]pyrimidin-4-one formula-1.
, Srinivasan Thirumalai Rajan
core +1 more source
Areas of improvement in the medical care of SMA : evidence from a nationwide patient registry in Germany [PDF]
, 2023 Background Management and treatment of spinal muscular atrophy (SMA) has changed in recent years due to the introduction of novel transformative and potentially curative therapies resulting in the emergence of new disease phenotypes.
Abner, Sophia +11 more
core +1 more source
Process for the preparation of Risdiplam and its intermediates [PDF]
, 2022 The present application relates to a process for the preparation of 7-(4,7-diazaspiro[2.5]octan-7-yl)-2-(2,8-dimethylimidazo[1,2-b]pyridazin-6-yl)pyrido-4H-[1,2-a]pyrimidin-4-one of formula-1 and its intermediate compounds.
, Srinivasan Thirumalai Rajan
core +1 more source
Canadian Journal of Health Technologies, 2021 CADTH recommends that Evrysdi should be reimbursed by public drug plans for the treatment of spinal muscular atrophy (SMA) in patients aged 2 months and older, if certain conditions are met. Evrysdi should only be reimbursed if the patient is under the care of a specialist with experience in the diagnosis and management of SMA, it is not ...
openaire +3 more sources
Bridging the Gap : Gene Therapy in a Spinal Muscular Atrophy Type 1 Patient [PDF]
, 2022 Molecular therapies exploit understanding of pathogenic mechanisms to reconstitute impaired gene function or manipulate flawed RNA expression. These therapies include 1) RNA interference by antisense oligonucleotides, 2) mRNA modification using small ...
Corti, Stefania +3 more
core +1 more source
SMA Therapy in Poland: New Hopes and Challenges [PDF]
, 2023 : Spinal muscular atrophy (SMA) is a genetically inherited disease whose symptoms appear in children at a fairly early age. The main cause of the disease is a mutation of the SMN1 gene, which causes the lack of production of SMN This results in the ...
Chrościńska-Krawczyk, Magdalena +4 more
core +1 more source
Combinatorial treatment for spinal muscular atrophy [PDF]
, 2020 Spinal muscular atrophy (SMA) is a severe autosomal recessive motor neuron disease caused by loss of SMN1, which encodes a protein essential for motor neuron survival.
A. Poletti, K.H. Fischbeck
core +1 more source