Results 141 to 150 of about 7,776 (285)

A horizontal and perpendicular interlaminar approach for intrathecal nusinersen injection in patients with spinal muscular atrophy and scoliosis: an observational study

Orphanet Journal of Rare Diseases
Background Lumbar puncture is challenging for patients with scoliosis. Previous ultrasound-assisted techniques for lumbar puncture used the angle of the probe as the needle trajectory; however, reproducing the angle is difficult and increases the number ...
Chanyan Huang, Yuanjia Zhang, Daniel Diedrich, Jiawen Li, Wei Luo, Xu Zhao, Yuting Guo, Yijun Luo, Tao Zhang, Xuan Wang, Wenqi Huang, Ying Xiao   +11 more
semanticscholar   +1 more source

Neurofilament light chain and profilin‐1 dynamics in 30 spinal muscular atrophy type 3 patients treated with nusinersen

European Journal of Neurology
The aim was to investigate whether neurofilament light chain (NfL) and profilin‐1 (PFN‐1) might qualify as surrogate disease and treatment‐response biomarkers by correlating their concentrations dynamic with clinical status in a cohort of 30 adult spinal
G. Musso, L. Bello, G. Capece, V. Bozzoni, L. Caumo, D. Sabbatini, V. Zangaro, E. Sogus, C. Cosma, A. Petrosino, G. Sorarù, M. Plebani, E. Pegoraro   +12 more
semanticscholar   +1 more source

The Impact of Nusinersen Treatment on Respiratory Function in Patients with Spinal Muscular Atrophy: A Systematic Review. [PDF]

J Clin Med
Background/Objectives: This systematic review evaluated the impact of nusinersen therapy on respiratory health and function in individuals with spinal muscular atrophy (SMA) and determined whether nusinersen improves pulmonary function, focusing on ...
Aldukain M, Aldukain A, Hobani A, Barakat A, Alsayyed L, Alomar M, Zain Al-Abeden MS, Alzoum N, Asseri AA.   +8 more
europepmc   +2 more sources

Short review on determination of nusinersen for spinal muscular atrophy treatment [PDF]

Preprint artykułuNusinersen, an antisense oligonucleotide, is an active ingredient of the first drug approved by the Food and Drug Administration for the treatment of spinal muscular atrophy, a genetic condition characterized by progressive muscle ...
Balińska, Natalia, Ostrowska, Karolina, Studzińska, Sylwia   +2 more
core   +1 more source

Quality of Life Assessment in Romanian Patients with Spinal Muscular Atrophy Undergoing Nusinersen Treatment

Neurology International
Spinal muscular atrophy (SMA), identified over a century ago, is characterized by severe muscle wasting and early mortality. Despite its rarity, the high carrier frequency of the responsible genetic mutations and the variability in its manifestations ...
Bogdana Cavaloiu, Iulia-Elena Simina, Lazăr Chișavu, Crisanda Vîlciu, Iuliana-Anamaria Trăilă, Maria Puiu   +5 more
openalex   +2 more sources

Effectiveness of Nusinersen in Adolescents and Adults with Spinal Muscular Atrophy: Systematic Review and Meta-analysis

Neurological Therapeutics
Introduction Nusinersen clinical trials have limited data on adolescents and adults with 5q-associated spinal muscular atrophy (SMA). We conducted a systematic literature review (SLR) and meta-analysis to assess effectiveness of nusinersen in adolescents
T. Hagenacker, L. Maggi, G. Coratti, Bora Youn, Stephanie Raynaud, Angela D Paradis, Eugenio Mercuri   +6 more
semanticscholar   +1 more source

Nusinersen for spinal muscular atrophy [PDF]

Therapeutic Advances in Neurological Disorders, 2018
Claudia D. Wurster, Albert C. Ludolph
openaire   +4 more sources

Treatment of Symptomatic Spinal Muscular Atrophy with Nusinersen: A Prospective Longitudinal Study on Scoliosis Progression

Journal of Neuromuscular Diseases
Background: Nusinersen treatment has demonstrated efficacy in improving clinical outcomes for spinal muscular atrophy (SMA), yet its impact on scoliosis progression remains unclear.
Hoi Ning Hayley Ip, M. K. L. Yu, Wilfred Hing Sang Wong, Amanda Liu, K. Kwan, S. Chan   +5 more
semanticscholar   +1 more source

Safety analysis of laboratory parameters in paediatric patients with spinal muscular atrophy treated with nusinersen

BMC Pediatrics
Background Spinal muscular atrophy (SMA) is a progressive neurodegenerative disorder that can be treated with intrathecal nusinersen, an antisense oligonucleotide.
Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui Li   +6 more
doaj   +1 more source

Priority setting at the clinical level: the case of nusinersen and the Norwegian national expert group [PDF]

, 2021
Morten Magelssen, Magnhild Rasmussen, Sean Wallace, Rei­dun Før­de   +3 more
openalex   +1 more source