Results 81 to 90 of about 4,580 (188)

Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study

, 2020
Nusinersen is approved for the treatment of 5q spinal muscular atrophy of all types and stages in patients of all ages. Although clinical trials have shown improvements in motor function in infants and children treated with the drug, data for adults are ...
Wunderlich, Gilbert, Kizina, Kathrin, Ludolph, Albert C., Petri, Susanne, Ziegler, Andreas, Lehmann, Helmar C., Cordts, Isabell, Mönninghoff, Christoph, Stolte, Benjamin, Schreiber-Katz, Olivia, Lingor, Paul, Osmanovic, Alma, Wurster, Claudia D., Deschauer, Marcus, Schneider, Ilka, Ose, Claudia, von Velsen, Otgonzul, Kleinschnitz, Christoph, Kuttler, Josua, Koch, Jan C, Hermann, Andreas, Totzeck, Andreas, Hagenacker, Tim, Schloss, Natalie, Weiler, Markus, Forsting, Michael, Pechmann, Astrid, Günther, René, Pietruck, Lena, Kirschner, Janbernd, Kamm, Christoph, Reichmann, Heinz   +31 more
core   +1 more source

Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?

Journal of Children's Orthopaedics
Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients.
Niyazi Erdem Yasar, Guzelali Ozdemir, Elif Uzun Ata, Mustafa Okan Ayvali, Naim Ata, Mahir Ulgu, Ebru Dumlupınar, Suayip Birinci, Izzet Bingol, Senol Bekmez   +9 more
doaj   +1 more source

Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study

Neurology International
Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive muscle weakness and atrophy due to the absence of the survival motor neuron 1 (SMN1) gene.
Anna Lemska, Piotr Ruminski, Jakub Szymarek, Sylwia Studzinska, Maria Mazurkiewicz-Beldzinska   +4 more
doaj   +1 more source

Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps.

, 2018
peer reviewedSpinal muscular atrophy (SMA) is a recessive disorder caused by a mutation in the survival motor neuron 1 gene (SMN1); it affects 1 in 11 000 newborn infants.
Teresa Gidaro, Gidaro, Teresa, Laurent Servais, Servais, Laurent   +3 more
core   +1 more source

Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]

, 2019
Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
core   +1 more source

Effect of nusinersen on pulmonary function in children with spinal muscular atrophy in the plateau region: A pilot study

Heliyon
Background: The drug nusinersen is applied to improve motor function in patients with spinal muscle atrophy (SMA). However, research on the effects of this treatment on lung function is lacking.
Jicai Zhu, Xiaofang Chen, Haoke Sang, Minming Ma, Chunhui Tang   +4 more
doaj   +1 more source

Feasibility and safety of intrathecal treatment with nusinersen in adult patients with spinal muscular atrophy

Therapeutic Advances in Neurological Disorders, 2018
Background: Nusinersen is an intrathecally administered antisense oligonucleotide (ASO) and the first approved drug for the treatment of spinal muscular atrophy (SMA).
Benjamin Stolte, Andreas Totzeck, Kathrin Kizina, Saskia Bolz, Lena Pietruck, Christoph Mönninghoff, Nika Guberina, Denise Oldenburg, Michael Forsting, Christoph Kleinschnitz, Tim Hagenacker   +10 more
doaj   +1 more source

Nusinersen chez l’enfant : évolution ou révolution ?

, 2019
Le nusinersen ou Spinraza® est utilisé en France dans l’amyotrophie spinale infantile chez l’enfant depuis un peu plus d’un an seulement. Des données personnelles, évidemment très préliminaires, apporte de premiers arguments sur son intérêt dans la prise
Christian Richelme
core   +1 more source

Spinal muscular atrophy and acute lymphoblastic leukemia - is it just a coincidence? [PDF]

Srpski Arhiv za Celokupno Lekarstvo
Introduction. Spinal muscular atrophy (SMA) and acute lymphoblastic leukemia (ALL) are rare diseases, with usual onset in childhood. To date, no cases have been reported where these conditions co-exist in one patient.
Jovanović Kristina, Dimić Jovana, Brkušanin Miloš, Nikolić Dejan, Škorić Dejan   +4 more
doaj   +1 more source

Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery [PDF]

Arquivos de Neuro-Psiquiatria
Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity.
Rodrigo de Holanda Mendonça, Hermann dos Santos Fernandes, Rafael Barbéro Schimmelpfeng Pinto, Ciro Matsui Júnior, Graziela Jorge Polido, André Macedo Serafim da Silva, Luis Fernando Grossklauss, Umbertina Conti Reed, Edmar Zanoteli   +8 more
doaj   +2 more sources