Results 51 to 60 of about 6,101 (249)

Gene suppression approaches to neurodegeneration [PDF]

, 2017
Gene suppression approaches have emerged over the last 20 years as a novel therapeutic approach for the treatment of neurodegenerative diseases. These include RNA interference and anti-sense oligonucleotides, both of which act at the post-transcriptional
Ghosh, R, Tabrizi, SJ
core   +1 more source

Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen [PDF]

, 2020
Available online 17 May 2020.ArticleJournal of the Neurological Sciences.415:116901(2020)journal ...
Morizumi, Teruya, Nakamura, Katsuya, Ozawa, Kazuki, Sekijima, Yoshiki, Takasone, Ken, Ueno, Akihiro, Yoshinaga, Tsuneaki   +6 more
core   +1 more source

Comparison of Nusinersen and Evrysdi in the Treatment of Spinal Muscular Atrophy [PDF]

E3S Web of Conferences, 2021
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease that commonly affects children, and usually worsens with age that often leads to permanent disability and death for many of the SMA patients.
Zhu Xiaoying
doaj   +1 more source

Investigating a Domain Adaptation Approach for Integrating Different Measurement Instruments in a Longitudinal Clinical Registry. [PDF]

Biom J
ABSTRACT In a longitudinal clinical registry, different measurement instruments might have been used for assessing individuals at different time points. To combine them, we investigate deep learning techniques for obtaining a joint latent representation, to which the items of different measurement instruments are mapped.
Hackenberg M, Pfaffenlehner M, Behrens M, Pechmann A, Kirschner J, Binder H.   +5 more
europepmc   +2 more sources

Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis [PDF]

, 2017
Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are severe nervous system diseases characterized by the degeneration of lower motor neurons.
Sleigh, JN, Tosolini, AP
core   +2 more sources

Cost effectiveness of nusinersen for patients with infantile-onset spinal muscular atrophy in US [PDF]

, 2020
Background Patients with infantile-onset spinal muscular atrophy (SMA), a rare, genetic neuromuscular disease, do not achieve key motor function milestones (e.g., sitting) and have short life expectancy in the absence of treatment.
Alexandra G. Ellis, C Lally, CH Wang, D Castro, E Mercuri, E Mercuri, E Mercuri, IEC Verhaart, JR Mendell, Matt Stevenson, NICE, P Guyot, P Tappenden, PB Shieh, Praveen Thokala, R Thompson, Richard H. Chapman, RS Finkel, RS Finkel, RS Finkel, S Zuluaga-Sanchez, Shijie Ren, Varun M. Kumar   +22 more
core   +1 more source

Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in Western China: a retrospective study

BMC Neurology, 2023
Background Spinal muscular atrophy (SMA) is a progressive degenerative neuromuscular disease. Nusinersen, with its quick onset of action, can benefit patients early in the treatment course.
Hua Yang, Qiuji Tao, Dan Li, Jie Yang, Qianyun Cai, Jing Gan, Shaoping Huang, Rong Luo   +7 more
doaj   +1 more source

Experience with nusinersen as a pathogenetic therapy in adult patients with spinal muscular atrophy 5q in the Republic of Bashkortostan

Нервно-мышечные болезни, 2023
Background. Spinal muscular atrophy (SMA) affects 1 in 11,000 people. Until 2016, this was considered an incurable disease, but after the approval of nusinersen, the situation has changed.
S. V. Umutbaev, L. Sh. Murzabaeva, M. A. Kutlubaev, A. V. Shishigin, T. N. Sharipov, E. V. Sayfullina, R. V. Мagzhanov   +6 more
doaj   +1 more source

Antisense oligonucleotides and other genetic therapies made simple [PDF]

, 2018
Many genetic neurological diseases result from the dysfunction of single proteins. Genetic therapies aim to modify these disease-associated proteins by targeting the RNA and DNA precursors.
Reilly, M, Rossor, A, Sleigh, JN
core   +1 more source

Clinical and economic assessment of nusinersen: the Bulgarian perspective

Expert Opinion on Orphan Drugs, 2020
Spinal muscular atrophy (SMA) is a very serious debilitating rare condition mainly affecting newborns and infants. The aim of current chapter is to present the standard of care and treatment available in Bulgaria from both clinical and economic point of view.
Maria Stefanova Kamusheva, Maria Jordanova Dimitrova   +1 more
openaire   +2 more sources