Results 11 to 20 of about 121,613 (384)

Spinal Muscular Atrophy

Pediatric Neurology Briefs, 1990
Juvenile chronic segmental spinal muscular atrophy of Hirayama is described in two adult identical twins from the Department of Neurology, University of Vermont College of Medicine, Burlington, VT.
J Gordon Millichap
doaj   +3 more sources

Spinal muscular atrophy and ependymoma

Saudi Journal of Medicine and Medical Sciences, 2017
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by a progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy and weakness.
Aishah Albakr, Faisal Abbas, Hosam Al-Jehani, Ahmed Ammar   +3 more
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Spinal Muscular Atrophy [PDF]

Neurotherapeutics, 2008
Spinal muscular atrophy (SMA) is a potentially devastating and lethal neuromuscular disease frequently manifesting in infancy and childhood. The discovery of the underlying mutation in the survival of motor neurons 1 (SMN1) gene has accelerated preclinical research, leading to treatment targets and transgenic mouse models, but there is still no ...
Maryam, Oskoui, Petra, Kaufmann
openaire   +4 more sources

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
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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

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
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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
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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
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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

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
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