Results 51 to 60 of about 116,027 (330)

A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]

, 2012
Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie, Christe, Martine, Handschin, Christoph   +2 more
core   +1 more source

Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study

Muscle and Nerve, 2021
The EMBRACE study (Clinical Trials No. NCT02462759) evaluated nusinersen in infants/children with infantile‐ or later‐onset spinal muscular atrophy (SMA) who were ineligible for the ENDEAR and CHERISH studies.
G. Acsadi, T. Crawford, W. Müller-Felber, P. Shieh, R. Richardson, Niranjana Natarajan, D. Castro, D. Ramirez-Schrempp, G. Gambino, P. Sun, W. Farwell   +10 more
semanticscholar   +1 more source

Castration‐resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy

IJU Case Reports, 2022
Introduction We report a prostate cancer case diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy which is a X‐linked recessive, lower motor neuron disease.
Atsuhi Yanase, Toru Sugihara, Takahiro Akimoto, Hirotaka Yokoyama, Jun Kamei, Akira Fujisaki, Satoshi Ando, Tameto Naoi, Mitsuya Morita, Tetsuya Fujimura   +9 more
doaj   +1 more source

Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy. [PDF]

, 2019
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by polyglutamine (polyQ) expansion in the androgen receptor (AR). Prior studies have highlighted the importance of AR nuclear localization in SBMA pathogenesis; therefore, in ...
Arnold, Frederick J., Merry, Diane E., Pluciennik, Anna   +2 more
core   +3 more sources

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.

Neuromuscular Disorders, 2017
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births.
E. Mercuri, R. Finkel, F. Muntoni, B. Wirth, J. Montes, M. Main, E. Mazzone, M. Vitale, B. Snyder, S. Quijano-roy, E. Bertini, Rebecca Hurst Davis, Oscar H Meyer, A. Simonds, M. Schroth, R. Graham, J. Kirschner, S. Iannaccone, Thomas O Crawford, S. Woods, Y. Qian, T. Sejersen   +21 more
semanticscholar   +1 more source

Newborn screening for spinal muscular atrophy : the views of affected families and adults [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria.
Boardman, Felicity K., Griffiths, Frances, Young, Philip J.   +2 more
core   +1 more source

Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen

Developmental Medicine & Child Neurology, 2022
To assess the evolution of bulbar function in nusinersen‐treated spinal muscular atrophy type 1 (SMA1).
H. Weststrate, Georgia Stimpson, L. Thomas, M. Scoto, Emily Johnson, A. Stewart, F. Muntoni, G. Baranello, Eleanor Conway   +8 more
semanticscholar   +1 more source

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models [PDF]

, 2017
SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death.
Bavasso, Francesca, Cacchione, Stefano, DI GIORGIO, MARIA LAURA, Esposito, Alessandro, Feiguin, Fabian, Gallotta, Ivan, Maccallini, Paolo, Mccabe, Brian D., Micheli, Emanuela, Raffa, GRAZIA DANIELA, Schiavi, Elia Di, Verni', Fiammetta   +11 more
core   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Rehabilitation in spinal muscular atrophy

Medycyna Ogólna i Nauki o Zdrowiu, 2021
Introduction and objective Spinal Muscular Atrophy (SMA) is a disease of the nervous system caused by the degeneration of motor neurons in the spinal cord. The disease is caused by a homozygous deletion of the motor neuron survival gene (SMN1),
Joanna Iłżecka
doaj   +1 more source