Results 61 to 70 of about 7,657 (243)

Nusinersen en el tratamiento de la atrofia muscular espinal: experiencia en Pediatría del Hospital Universitario Río Hortega [PDF]

, 2019
La atrofia muscular espinal (AME) es una enfermedad neurodegenerativa que conlleva una pérdida de fuerza progresiva e hipotonía. Se trata de una enfermedad genética debida a mutaciones en el gen SMN1, lo que ocasiona un déficit de la proteína de ...
Torío Salvador, Marina
core  

Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment [PDF]

, 2016
Acknowledgments This study is supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London (FM and HZ), the Medical Research Council ...
Angkathunkayul, Napat, Catapano, Francesco, Marrosu, Elena, Morgan, Jennifer E., Muntoni, Francesco, Parson, Simon H., Sintusek, Palittiya, Zhou, Haiyan   +7 more
core   +2 more sources

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

Neurological Therapeutics
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 and adults ...
T. Hagenacker, L. Maggi, Giorgia Coratti, Bora Youn, Stephanie Raynaud, Angela D. Paradis, Eugenio Mercuri   +6 more
semanticscholar   +1 more source

Optimization of pharmaceutical research and development by early‐phase assessment of investigational medicinal products

British Journal of Clinical Pharmacology, EarlyView.
Small and mid‐sized pharmaceutical innovators often have limited in‐house health economics and market access expertise, and may struggle to align development strategies of investigational medicinal products with health system needs and payer expectations.
Zoltán Kaló, Attila Imre, Gábor Varga, Sándor Kovács, György Tímár, Balázs Nagy   +5 more
wiley   +1 more source

Routine Cerebrospinal Fluid Cytology Reveals Unique Inclusions in Macrophages During Treatment With Nusinersen

Frontiers in Neurology, 2019
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by degeneration of spinal motor neurons leading to muscular weakness.
Stefan Gingele, Martin W. Hümmert, Sascha Alvermann, Konstantin F. Jendretzky, Lena Bönig, Marina Brieskorn, Philipp Schwenkenbecher, Kurt-Wolfram Sühs, Lars H. Müschen, Alma Osmanovic, Olivia Schreiber-Katz, Martin Stangel, Susanne Petri, Thomas Skripuletz   +13 more
doaj   +1 more source

Early‐stage health technology assessment of a curative gene therapy for multiple sclerosis

British Journal of Clinical Pharmacology, EarlyView.
Aims Multiple sclerosis (MS) is associated with significant early morbidity, reduced life expectancy and substantial healthcare and societal costs. The primary objective of this study is to assess the early cost‐effectiveness potential of a novel gene therapy, IMMUTOL, for MS compared with current high‐efficacy treatment sequences.
Attila Imre, Balázs Nagy, Rok Hren
wiley   +1 more source

Response of plasma microRNAs to nusinersen treatment in patients with SMA

Annals of Clinical and Translational Neurology, 2022
Objective Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality. Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients respond well, while others have limited response.
Irina T. Zaharieva, Mariacristina Scoto, Karolina Aragon‐Gawinska, Deborah Ridout, Bruno Doreste, Laurent Servais, Francesco Muntoni, Haiyan Zhou   +7 more
doaj   +1 more source

CRISPRi-based radiation modifier screen identifies long non-coding RNA therapeutic targets in glioma. [PDF]

, 2020
BackgroundLong non-coding RNAs (lncRNAs) exhibit highly cell type-specific expression and function, making this class of transcript attractive for targeted cancer therapy.
Akeson, Mark, Birk, Harjus S, Gupta, Nalin, He, Daniel, Hong, Sung Jun, Horlbeck, Max A, Jain, Miten, Koontz, Mark, Lien, Brian V, Lim, Daniel A, Liu, S John, Malatesta, Martina, Monje, Michelle, Olsen, Hugh E, Pedraza, Leslie, Raleigh, David R, Saha, Parna, Seo, Kyounghee, Thombare, Shivani S, Ullian, Erik M, Weissman, Jonathan S   +20 more
core   +1 more source

Identification of pathways of degeneration and protection in motor neuron diseases [PDF]

, 2017
Motor neuron diseases preferentially affect specific neuronal populations with distinct clinical features even if disease-causing genes are expressed in many cell types. In spinal muscular atrophy (SMA), somatic motor neurons are selectively vulnerable
Nichterwitz, Susanne
core   +1 more source

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source