Results 21 to 30 of about 594,870 (337)

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

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, M. Farrar, F. Muntoni, K. Saito, J. Mendell, L. Servais, H. McMillan, R. Finkel, K. Swoboda, J. Kwon, C. Zaidman, C. Chiriboga, S. Iannaccone, J. Krueger, J. Parsons, P. Shieh, S. Kavanagh, M. Wigderson, S. Tauscher‐Wisniewski, B. McGill, T. Macek   +20 more
semanticscholar   +1 more source

Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report

Journal of Medical Case Reports, 2022
Background Spinal muscular atrophy is a genetic disorder characterized by degeneration of lower motor neurons, leading to progressive muscular atrophy and even paralysis.
Cempaka Thursina Srie Setyaningrum, Indra Sari Kusuma Harahap, Dian Kesumapramudya Nurputra, Irwan Taufiqur Rachman, Nur Imma Fatimah Harahap   +4 more
doaj   +1 more source

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, Indra Sari Kusuma Harahap, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Ahmad Hamim Sadewa, Giga Hasabi Alkarani, Nur Imma Fatimah Harahap   +6 more
doaj   +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

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, B. Darras, J. Day, N. Deconinck, A. Klein, R. Masson, E. Mercuri, K. Rose, M. El-Khairi, M. Gerber, K. Gorni, O. Khwaja, H. Kletzl, R. Scalco, T. Seabrook, P. Fontoura, L. Servais   +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

Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy

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, S. Al-Zaidy, K. Lehman, M. McColly, L. Lowes, L. Alfano, Natalie F Reash, M. Iammarino, K. Church, A. Kleyn, M. Meriggioli, R. Shell   +11 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, Sandra Holland, D. Kariyawasam, K. Herbert, P. Barclay, A. Cairns, S. MacLennan, M. Ryan, H. Sampaio, Nicholas Smith, I. Woodcock, Eppie M You, I. Alexander, M. Farrar   +13 more
semanticscholar   +1 more source

Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report

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, E. Yu. Fedotov, S. N. Illarioshkin   +2 more
doaj   +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, Gabriel Cristian Bejan, Corina Sporea, Liliana Padure, Andrada Mirea, Madalina-Cristina Leanca, Mihaela Axente, Florin Petru Grigoras, Mihaela Bejan, Elena-Silvia Shelby, Elena Neagu, Daniela Adriana Ion   +11 more
doaj   +1 more source