Results 121 to 130 of about 7,776 (285)

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  

Six‐minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen

Muscle and Nerve
Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA).
Alessandra Govoni, Giulia Ricci, Silvia Bonanno, Luca Bello, Francesca Magri, Megi Meneri, Francesca Torri, Claudia Caponnetto, Luigia Passamano, Marina Grandis, Francesca Trojsi, Federica Cerri, G Gadaleta, Giuliana Capece, Luca Caumo, Raffaella Tanel, Elena Saccani, Veria Vacchiano, Gianni Sorarù, Eustachio D’Errico, Irene Tramacere, Sara Bortolani, Enrica Rolle, Cinzia Gellera, Riccardo Zanin, Mauro Silvestrini, Luisa Politano, Angelo Schenone, Stefano C. Previtali, Angela Berardinelli, Mara Turri, Lorenzo Verriello, Michela Coccia, Renato Mantegazza, Rocco Liguori, Massimiliano Filosto, Maria Antonietta Maioli, Isabella Laura Simone, Tiziana Mongini, Stefania Corti, Maria Laura Manca, Elena Pegoraro, Gabriele Siciliano, Giacomo P. Comi, Lorenzo Maggi   +44 more
openalex   +2 more sources

Recent Progress in Gene Delivery Systems Based on Gemini‐Surfactant

MedComm – Future Medicine, Volume 4, Issue 3, September 2025.
Gene delivery is a key area in biomedicine, where nucleic acids are delivered into cells to treat diseases by modulating genes. The low micelle concentration, effective nucleic acid complexation, and low immunogenicity make Gemini surfactants promising gene delivery vectors.
Peng Qian, Yuxin Chen, Yangchen Xing, Kexin Wu, Qianyu Zhang, Huali Chen   +5 more
wiley   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, Volume 26, Issue 9, September 2025.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

The Potential of SARMs and Antimyostatin Agents in Addressing Lean Body Mass Loss From GLP‐1 Agonists: A Literature Review

Journal of Diabetes, Volume 17, Issue 8, August 2025.
ABSTRACT Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated substantial weight loss effects among patients with diabetes and obesity. However, given the rapid weight loss induced, there is concern about the total change in body composition, including lean body mass (LBM).
Jimmy Wen, Ubaid Ansari, Mouhamad Shehabat, Zaid Ansari, Burhaan Syed, Adam Razick, Daniel Razick, Muzammil Akhtar, Eldo Frezza   +8 more
wiley   +1 more source

Ultrasound‐assisted and landmark‐based nusinersen delivery in spinal muscular atrophy adults: A retrospective analysis [PDF]

Australasian Journal of Ultrasound in Medicine
Nusinersen, the first treatment approved for all spinal muscular atrophy (SMA) types, is administered intrathecally through lumbar puncture. We used ultrasound assistance or a landmark‐based technique to access the lumbar intrathecal space in adult SMA ...
Bruno Antonio Zanfini, Agata Katia Patanella, Francesco Vassalli, Stefano Catarci, Marika Pane, Luciano Frassanito, Matteo Biancone, Mariangela Di Muro, Chiara Bravetti, Eugenio Mercuri, Mario Sabatelli, Gaetano Draisci   +11 more
openalex   +2 more sources

Long-Term Comparative Efficacy and Safety of Risdiplam and Nusinersen in Children with Type 1 Spinal Muscular Atrophy

Advances in Therapy
Introduction Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disease characterized by a loss of motor neurons and progressive muscle weakness.
C. Kokaliaris, Rachel Evans, Neil Hawkins, A. Mahajan, David Alexander Scott, C. S. Sutherland, Julian Nam, Gautam Sajeev   +7 more
semanticscholar   +1 more source

Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen

Biology Direct, 2023
Background Spinal muscular atrophy (SMA) is a rare autosomal-recessive neurodegenerative disorder caused by mutations in survival motor neuron 1 (SMN1) gene, and consequent loss of function of SMN protein, which results in progressive loss of lower motor
M. Garofalo, S. Bonanno, S. Marcuzzo, C. Pandini, E. Scarian, F. Dragoni, R. Di Gerlando, M. Bordoni, S. Parravicini, C. Gellera, R. Masson, C. Dosi, R. Zanin, O. Pansarasa, C. Cereda, A. Berardinelli, S. Gagliardi   +16 more
doaj   +1 more source

Therapies for Mitochondrial Disease: Past, Present, and Future

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Mitochondrial disease is a diverse group of clinically and genetically complex disorders caused by pathogenic variants in nuclear or mitochondrial DNA‐encoded genes that disrupt mitochondrial energy production or other important mitochondrial pathways. Mitochondrial disease can present with a wide spectrum of clinical features and can often be
Megan Ball, Nicole J. van Bergen, Alison G. Compton, David R. Thorburn, Shamima Rahman, John Christodoulou   +5 more
wiley   +1 more source

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. [PDF]

, 2020
Objective To retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA).
Bello L, Berardinelli A, Bonanno S, Bortolani S, Bozzoni V, Caponnetto C, Caumo L, Cerri F, Coccia M, Comi G, D'Errico E, Ferraro M, Filosto M, Govoni A, Grandis M, Liguori R, Maggi L, Mantegazza R, Marrosu G, Meneri M, Mongini T, Passamano L, Pavesi G, Pegoraro E, Piras R, Politano L, Previtali SC, Ricci G, Saccani E, Schenone A, Siciliano G, Silvestrini M, Simone IL, Soraru' G, Tanel R, Tramacere I, Trojsi F, Turri M, Vacchiano V, Verriello L, Zanin R   +40 more
core   +1 more source