Results 61 to 70 of about 2,012 (138)

Biological markers in predicting the course of spinal muscular atrophy and their importance in organizing medical care

Якутский медицинский журнал
А correlation between the levels of blood biomarkers and clinical manifestations of SMA in patients of the main regional healthcare institution of the Samara region was carried out.
A. Ya. Gaiduk, T. S. Syunyakov, A. V. Gazheva, E. F. Makhanova, Ya. V. Vlasov   +4 more
doaj   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1866-1877, September 2026.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data

Aims: (i) provide a snapshot from a large cohort of Italian patients with SMA on risdiplam in the real-world setting; (ii) identify any differences in the cohorts before and after commercial drug approval considering the different eligibility access ...
Coratti G., Pane M., Pera M. C., Mercuri E. M., Bravetti C., Pegoraro E., D'Amico, Adele, Claudia Dosi, Messina S., Giulia Ricci, Previtali S., Eleonora Minacapilli, Angela Berardinelli, Ricci F., Ferrero A., Elena Briganti, Magnolato A., Adele D'Amico, Mongini, Tiziana, Adrea Lizio, Ucci Maria, Katia Patanella, Noemi Brolatti, Pedemonte M., Vecchiano V., Bonanno, Silvia, Agosto C., Zanolini A., Mongini T., Sansone, Valeria Ada, Marina Pedemonte, Riccardo Zanin, Claudio Bruno, Minacapilli E., Pini A., Luciana Nigro, Zanin R., Chiara Bravetti, Albamonte E., Alberto Zambon, Eugenio Maria Mercuri, Riccardo Zuccarino, Bruno C., Pane, Marika, Sframeli, Maria, Briganti E., Michela Catteruccia, Zuccarino R., Comi G., Michele Sacchini, Giacomo Comi, Elena Pegoraro, Messina, Sonia, Maria U., Pini, Antonella, Silvia Bonanno, Ticci C., Ricci G., Maria Sframeli, Pegoraro, Elena, Esther Picillo, Dosi, Claudia, Giuliana Capece, Giorgia Coratti, Coratti, Giorgia, Masson, Riccardo, Gaia Scarpini, Patanella, Katia, ItaSMAc, Stefano Previtali, Ilaria Bitetti, Masson R., Lorenzo Maggi, Enrico Bertini, Emilio Albamonte, Mercuri, Eugenio Maria, Valeria Ada Sansone, Maggi L., Bertini E., Lizio, Adrea, Lizio A., Dosi C., Caterina Agosto, Bonanno S., Zambon A., Bruno I., Catteruccia M., Bertini, Enrico, ItaSMAc: Amanda Ferrero, Francesca Salmin, Picillo E., Sonia Messina, Sansone V. A., Federica Ricci, Maggi, Lorenzo, Andrea Magnolato, Benedetti F., Bravetti, Chiara, Albamonte, Emilio, Scarpini, Gaia, Francesca Benedetti, Tiziana Mongini, Antonella Pini, Riccardo Masson, D'Amico A., Ricci, Federica, Veria Vecchiano, Pera, Maria Carmela, Alice Zanolini, Scarpini G., Bitetti I., Berardinelli A., Marika Pane, Capece G., Chiara Ticci, Bruno, Claudio, Salmin F., Irene Bruno, Sacchini M., Maria Carmela Pera, Patanella K., Brolatti, Noemi, Brolatti N., Sframeli M., Zanolini, Alice, Nigro L.   +125 more
core   +3 more sources

Atrofia muscular espinal tipo 2 en tratamiento con risdiplam en el Instituto Nacional de Salud del Niño – San Borja: un reporte de caso

Investigación e Innovación Clínica y Quirúrgica Pediátrica
La atrofia muscular espinal (AME) es una enfermedad neuromuscular frecuente en la edad pediátrica caracterizada por la presencia de debilidad muscular progresiva, hipotonía y atrofia muscular simétrica. El tratamiento de la AME en Perú se basa en el uso
Peggy Carol Martínez-Esteban, Richard Christian Morales Brañes, Juan Victor Florez Zamora, Cinthya Tatiana Cornejo Gallegos   +3 more
doaj   +1 more source

Clinical characteristics of the included cases treated with risdiplam and the associated adverse events.

Clinical characteristics of the included cases treated with risdiplam and the associated adverse events.
Limei Liu (134888), Lurong Yu (18086654)
core   +1 more source

ยารับประทาน Risdiplam ทางเลือกของการรักษาโรคกล้ามเนื้ออ่อนแรง Risdiplam in Spinal Muscular Atrophy (SMA): Therapeutic Alternatives [PDF]

บทคัดย่อ Risdiplam ยารับประทานชนิดแรกที่พัฒนาขึ้นเพื่อรักษาโรคกล้ามเนื้ออ่อนแรง (Spinal Muscular Atrophy; SMA) ออกฤทธิ์โดยปรับเปลี่ยนกระบวนการตัดต่อ mRNA (splicing) ของยีน survival motor neuron 2 (SMN2) ทำให้ร่างกายสามารถสร้างโปรตีน SMN ที่สมบูรณ์และม ...
Puangpoemsin, Narumon, Sirisuksan, Vimonkarn   +1 more
core  

RNA targeted therapies: Risdiplam for spinal muscolar atrophy treatment

, 2023
reservedRisdiplam è il primo farmaco orale sviluppato per il trattamento dell' atrofia muscolare spinale (SMA) ed è stato approvato nel 2020 dalla Food and Drug Administration (FDA) statunitense per il trattamento di tutti i tipi di SMA in pazienti ...
TARQUINI, CARLO
core  

A Brand-New Metal Complex Catalyst-Free Approach to the Synthesis of 2,8-Dimethylimidazo[1,2-b]pyridazine-6-Carboxylic Acid—A Key Intermediate in Risdiplam Manufacturing Process

Molecules
In this study, we report for the first time a brand-new protocol for the multigram-scale synthesis of 5-methyl-6-oxo-1,6-dihydropyridazine-3-carboxylic and 2,8-dimethylimidazo[1,2-b]pyridazine-6-carboxylic acids, without the utilization of metal-complex ...
Georgiy Korenev, Alexey A. Gutenev, Fyodor V. Antipin, Vladimir V. Chernyshov, Maria P. Korobkina, Maxim B. Nawrozkij, Roman A. Ivanov   +6 more
doaj   +1 more source

Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy

International Journal of General Medicine, 2022
Leigh Ramos-Platt,1 Lauren Elman,2 Perry B Shieh3 1Department of Pediatrics, Keck School of Medicine, University of Southern California and Children’s Hospital of Los Angeles, Los Angeles, CA, USA; 2Department of Neurology, University of Pennsylvania ...
Ramos-Platt L, Elman L, Shieh PB
doaj  

Newer advances in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

Journal of Current Research in Scientific Medicine, 2019
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two common and important Inherited neuromuscular disorders which have witnessed immense advances in their treatment owing to ongoing developments in gene therapy.
Mukesh Kumar, Venugopalan Y Vishnu
doaj   +1 more source