Results 21 to 30 of about 4,580 (188)

Nusinersen injections in adults and children with spinal muscular atrophy: a single-center experience [PDF]

, 2020
PurposeNusinersen is a drug approved in December 2016 for treatment of spinal muscular atrophy (SMA). We want to share our initial experience with image-guided, non-image-guided, and port-delivered nusinersen injections in a large single-center SMA ...
Can Özütemiz, Peter Karachunski, David R. Nascene   +2 more
core   +1 more source

Glymphatic Dysfunction in Children With Type 2 and 3 Spinal Muscular Atrophy. [PDF]

CNS Neurosci Ther
This study reveals glymphatic dysfunction in children with spinal muscular atrophy (SMA), characterized by increased cerebrospinal fluid volume and reduced ALPS index. These alterations correlate with clinical severity, identifying glymphatic dysfunction as a previously unrecognized feature of SMA pathophysiology.
Lan S, Xiang P, Yan C, Nie H, Wang H, Xu B, Yang Z, Tang W, Li Y, Liang Y, Chen Y.   +10 more
europepmc   +2 more sources

Effect of nusinersen on respiratory function in paediatric spinal muscular atrophy types 1-3

, 2021
Introduction: Nusinersen is used in spinal muscular atrophy (SMA) to improve peripheral muscle function; however, respiratory effects are largely unknown.
Chacko, A, Sly, PD, Begum, N, Thomas, N, Deegan, S, Ware, RS, Gauld, LM   +6 more
core   +1 more source

Nusinersen Administration in Spinal Muscular Atrophy Patients with Severe Scoliosis: Interlaminar Approaches at the Lumbar Level [PDF]

Annals of Child Neurology, 2020
Purpose Spinal muscular atrophy (SMA) is a genetic progressive neuromuscular disorder, and nusinersen has shown to improve its symptoms. Scoliosis is a frequent symptom in patients with SMA and complicates the intrathecal injection of nusinersen. The aim
Joo Young Song, Hyun Su Kim, Se-Jun Park, Jiwon Lee, Jeehun Lee   +4 more
doaj   +1 more source

Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study

Orphanet Journal of Rare Diseases, 2021
Background This observational study describes our experience delivering nusinersen through lumbar puncture with real-time ultrasound guidance in spinal muscular atrophy (SMA) patients with severe scoliosis.
Jiao Zhang, Xulei Cui, Si Chen, Yi Dai, Yuguang Huang, Shuyang Zhang   +5 more
doaj   +1 more source

Nusinersen versus sham control in later-onset spinal muscular atrophy [PDF]

, 2018
BACKGROUND: Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA).
Jacqueline Montes, Chiriboga, C. A., Tulinius, Mar,, Bishop, Kathie M., Chiriboga, Claudia A., Day, John W., Basil T. Darras, Finkel, R. S., CHERISH Study Group, Kathie M. Bishop, Schneider, Eugene, Bishop, Kathie M, Már Tulinius, Mercuri, E., Mazzone, Elena S, Montes, Jacqueline, Schneider, E., Richard Foster, Nancy L. Kuntz, De Vivo, Darryl C, Finkel, Richard S., Shieh, Perry B, Cherish Study Grp, Cherish Study Grp, Kuntz, Nancy L., Kuntz, Nancy L, Servais, Laurent, Schneider-Moser, Elisabeth Margarete Ute, Anne M. Connolly, Sarah Gheuens, Bennett, C Frank, Kayoko Saito, Yang, Q., Foster, R., Gheuens, S., Mazzone, E. S., Wildon Farwell, Darryl C. De Vivo, Qingqing Yang, Mazzone ES, Mercuri, Eugenio, Gheuens, Sarah, C. Frank Bennett, Janbernd Kirschner, Connolly, Anne M., Eugene Schneider, Kirschner, Janbernd, Connolly, Anne M, Piastra, Marco, Saito, K., Mercuri E, De Vivo, Darryl C., Bishop, K. M., Darras, B. T., Claudia A. Chiriboga, Saito, Kayoko, Connolly, A. M., Tulinius, Mar, Bennett, C. Frank, Elena S. Mazzone, Richard S. Finkel, Schneider E, Shieh, Perry B., Darras, Basil T, Campbell, C., Campbell, Craig, Iannaccone, Susan T, Montes, J., Farwell, W., Finkel, Richard S, Iannaccone, Susan T., Yang, Qingqing, Perry B. Shieh, Mazzone, Elena S., Chiriboga, Claudia A, Foster, Richard, Kirschner, J., Shieh, P. B., Day, John W, Craig Campbell, Day, J. W., Iannaccone, S. T., De Vivo, D. C., Susan T. Iannaccone, Farwell, Wildon, Bennett, C. F., Eugenio Mercuri, Kuntz, N. L., Darras, Basil T., John W. Day   +88 more
core   +2 more sources

Nusinersen treatment in adult Spinal Muscular Atrophy [PDF]

, 2022
openBACKGROUND O PRESUPPOSTI DELLO STUDIO La SMA è una malattia neuromuscolare geneticamente determinata caratterizzata da interessamento del secondo motoneurone, che si presenta con debolezza muscolare, atrofia muscolare prevalentemente prossimale e ...
SOGUS, ELENA
core  

Spinal muscular atrophy after nusinersen therapy

, 2021
Spinal muscular atrophy (SMA) is a genetically heterogeneous group of rare neuromuscular diseases and was until recently the most common genetic cause of death in children.
Deutsch, Leon, Leon Deutsch, Damjan Osredkar, Janez Plavec, Blaž Stres, Osredkar, Damjan, Stres, Blaž, Plavec, Janez   +7 more
core   +1 more source

Treatment with nusinersen in a girl with spinal muscular atrophy type 1 - Case report

Zdravniški Vestnik, 2020
We report the case of a girl with spinal muscular atrophy (SMA) type 1, who is the first patient with SMA in Slovenia treated with nusinersen, the first disease modifying therapy available for these patients.
Tanja Loboda, Tita Butenko, Tanja Golli, Damjan Osredkar   +3 more
doaj   +1 more source

Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model [PDF]

, 2022
Background: Nusinersen is approved for the treatment of spinal muscular atrophy. The most common approved dosing regimen is four intrathecal loading doses of nusinersen 12 mg; the first three are administered at 14-day intervals followed by a fourth dose
Berger, Zdenek, MacCannell, Drew, Iannaccone, Susan T, Finkel, Richard S, Muntoni, Francesco, Kirschner, Janbernd, Kuntz, Nancy L, Farrar, Michelle A, Mercuri, Eugenio, Valente, Marta   +9 more
core   +1 more source