Results 71 to 80 of about 2,012 (138)

Specificity, synergy, and mechanisms of splice-modifying drugs

Nature Communications
Drugs that target pre-mRNA splicing hold great therapeutic potential, but the quantitative understanding of how these drugs work is limited. Here we introduce mechanistically interpretable quantitative models for the sequence-specific and concentration ...
Yuma Ishigami, Mandy S. Wong, Carlos Martí-Gómez, Andalus Ayaz, Mahdi Kooshkbaghi, Sonya M. Hanson, David M. McCandlish, Adrian R. Krainer, Justin B. Kinney   +8 more
doaj   +1 more source

Spinal muscular atrophy as a blueprint for precision therapy in neuromuscular disease

Expert Reviews in Molecular Medicine
Background Spinal Muscular Atrophy (SMA) is caused by a deficiency of the survival motor neuron (SMN) protein due to loss of SMN1 and inefficient compensation by SMN2. This genetic architecture has driven the development of precision therapeutics.
Busra Cetin, Melike Aliciaslan, Ezgi Erbasan, Busra Cesur Ergun, Salih Sanlioglu   +4 more
doaj   +1 more source

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

Therapeutics and Clinical Risk Management, 2019
Tamara Dangouloff,1 Laurent Servais1,2 1Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium ...
Dangouloff T, Servais L
doaj  

JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam

: Risdiplam is a once-daily oral, survival of motor neuron 2 (SMN2) splicing modifier approved for the treatment of spinal muscular atrophy (SMA).
Kostera-Pruszczyk A., Fontoura P., Mercuri E., Jaber B., Chiriboga C. A., Martin C., Kirschner J., Duong T., Gorni K., Muntoni F., Carruthers I., Bruno C., Fischer D., Scalco R. S., Kletzl H.   +14 more
core   +2 more sources

Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients

Orphanet Journal of Rare Diseases
Background Risdiplam is a validated treatment for adult SMA patients, but clear guidelines concerning functional assessment at baseline and during the follow-up are still limited, especially in terms of sensible and validated outcome measures able to ...
Gianmarco Severa, Maria del Carmen Alfaro, Christophe Alimi Ichola, Hussein Shoaito, Sarah Souvannanorath, François-Jerôme Authier, Edoardo Malfatti   +6 more
doaj   +1 more source

Transforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2

Biomedicines
Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disorder and a leading genetic cause of infant mortality. The past decade has witnessed a paradigm shift in SMA management with the advent of disease-modifying drugs (DMDs).
Andrej Belančić, Patrick Castillo Eustaquio, Elvira Meni Maria Gkrinia, Valentino Rački, Kristina Pilipović, Dinko Vitezić   +5 more
doaj   +1 more source

Zdravljenje prvih bolnikov z gensko nadomestno terapijo v Sloveniji; otroka s spinalno mišično atrofijo, ki sta se zdravila z zdravilom onasemnogene abeparvovek

Zdravniški Vestnik
Spinalna mišična atrofija (SMA) je redka genetska bolezen, ki prizadene motorične nevrone, zaradi česar propadajo mišice ter se slabša splošno stanje bolnika.
Eva Vrščaj, Tanja Golli, Tanja Loboda, Alenka Piskar, Matjaž Homan, Damjan Osredkar   +5 more
doaj   +1 more source

Respiratory morbidity in patients with spinal muscular atrophy—a changing world in the light of disease-modifying therapies

Frontiers in Pediatrics
Respiratory complications are common in spinal muscular atrophy (SMA) and significantly contribute to morbidity and mortality in these patients. Generalized respiratory and bulbar muscle weakness translates into diverse and complex clinical consequences ...
Leen Lagae, Marijke Proesmans, Marijke Proesmans, Marleen Van den Hauwe, Marleen Van den Hauwe, François Vermeulen, François Vermeulen, Liesbeth De Waele, Liesbeth De Waele, Mieke Boon, Mieke Boon   +10 more
doaj   +1 more source

Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center Experience

Annals of Indian Academy of Neurology
Background and Objectives: Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder in children, with an incidence of 1 in 6000–10000 live births. It is characterized by progressive lower motor neuron weakness.
Hafsa, Smilu Mohanlal, PM Mubeena, Aarthi Balaji, S Pramod, Suresh Kumar, Divya Pachat   +6 more
doaj   +1 more source

Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients

Children
Spinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute to the severity of symptoms and those factors can be used to determine the best course of
Stephanie Voight, Kapil Arya
doaj   +1 more source