Results 11 to 20 of about 77,106 (331)

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, K. Swoboda, D. D. De Vivo, E. Bertini, W. Hwu, R. Finkel, J. Kirschner, N. Kuntz, A. Nazario, J. Parsons, A. Pechmann, M. Ryan, R. Butterfield, H. Topaloğlu, T. Ben-Omran, V. Sansone, Y. Jong, Francy Shu, Cong Zhu, Stephanie Raynaud, Tiffany R Lago, A. Paradis, R. Foster, Russell Chin, Z. Berger   +24 more
semanticscholar   +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, Zaneta Matuszek, Kaitlyn M. Kray, Ailing Du, Gregory A. Newby, A. Blatnik, Aditya Raguram, M. Richter, K. Zhao, Jonathan M. Levy, Max W. Shen, W. Arnold, Dan Wang, Jun Xie, Guangping Gao, A. Burghes, David R. Liu   +16 more
semanticscholar   +1 more source

Spinal Muscular Atrophy [PDF]

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

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

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

Combined spinal-epidural anesthesia in a patient with spinal muscular atrophy type II undergoing cesarean section: A case report [PDF]

Vojnosanitetski Pregled, 2020
Introduction. Anesthetic management of a patient with spinal muscular atrophy type II, who underwent elective cesarean section with neuraxial anesthesia is presented in this case report. Case report.
Krušić Slavica, Nikolić Branka, Maglić Rastko   +2 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

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

Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol.

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, Paola Díaz-Abós, Victoria Sánchez-Menéndez, Carmen Álvarez, María Terzaghi, Jorge Maurino, María Brañas-Pampillón, Ignacio Málaga   +7 more
doaj   +2 more sources

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