Results 61 to 70 of about 6,101 (249)

Newborn screening for spinal muscular atrophy : the views of affected families and adults [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria.
Boardman, Felicity K., Griffiths, Frances, Young, Philip J.   +2 more
core   +1 more source

Cerebrospinal Fluid Parameters in Antisense Oligonucleotide-Treated Adult 5q-Spinal Muscular Atrophy Patients

Brain Sciences, 2021
Approval of nusinersen, an intrathecally administered antisense oligonucleotide, for the treatment of 5q-spinal muscular atrophy (SMA) marked the beginning of a new therapeutic era in neurological diseases.
Lars Hendrik Müschen, Alma Osmanovic, Camilla Binz, Konstantin F. Jendretzky, Gresa Ranxha, Paul Bronzlik, Omar Abu-Fares, Flavia Wiehler, Nora Möhn, Martin W. Hümmert, Stefan Gingele, Friedrich Götz, Martin Stangel, Thomas Skripuletz, Olivia Schreiber-Katz, Susanne Petri   +15 more
doaj   +1 more source

Newborn genetic screening for spinal muscular atrophy in the UK : the views of the general population [PDF]

, 2018
Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routinescreening programme for SMA in the UK.
Ar Rochmah, Bailey, Bertini, Boardman, Boardman, Boardman, Boardman, Bombard, Botkin, Chiriboga, Dankert-Roelse, Friedman, Gavrilov, Grob, Himes, Kato, Kesari, Lawton, Lefebvre, Lefebvre, Lefebvre, Lin, Lunn, McClaren, Munsat, Munsat, O'Neill, Ogino, Ogino, Oprea, Parks, Prior, Prior, Prior, Prior, Rose, Rothwell, Schmidt, Swoboda, Timmermans, Tluczek, Wadman, Wang, Wirth, Wood, Xu, Young   +46 more
core   +1 more source

Nusinersen ameliorates motor function and prevents motoneuron Cajal body disassembly and abnormal poly(A) RNA distribution in a SMA mouse model [PDF]

, 2020
Spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease characterized by degeneration of spinal cord alpha motor neurons (αMNs).
Berciano Blanco, María Teresa, Calderó, Jordi, Lafarga Coscojuela, Miguel Ángel, Medina Mamamé, Almudena, Puente Bedia, Alba, Rodríguez Rey, José Carlos, Tapia Martínez, Olga   +6 more
core   +2 more sources

Nusinersen as a Therapeutic Agent for Spinal Muscular Atrophy [PDF]

Yonsei Medical Journal, 2020
The reduction of survival motor neuron (SMN) protein causes spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease. Nusinersen is an antisense oligonucleotide, approved by the FDA, which specifically binds to the repressor within SMN2 exon 7 to enhance exon 7 inclusion and augment production of functional SMN protein. Nusinersen is
openaire   +3 more sources

Proxy-Reported Quality of Life and Access to Nusinersen Among Patients with Spinal Muscular Atrophy in Saudi Arabia

Patient Preference and Adherence, 2021
Yazed AlRuthia,1,2 Ghadah S Almuaythir,1 Hala H Alrasheed,1 Wejdan R Alsharif,1 Mohamad-Hani Temsah,3,4 Fahad Alsohime,3,4 Ibrahim Sales,1 Monira Alwhaibi,1 Fahad A Bashiri3,5 1Department of Clinical Pharmacy, College of Pharmacy, King Saud University ...
AlRuthia Y, Almuaythir GS, H Alrasheed H, Alsharif WR, Temsah MH, Alsohime F, Sales I, Alwhaibi M, Bashiri FA   +8 more
doaj  

Nusinersen in spinal muscular atrophy: Respiratory outcomes at tertiary care centers

Journal of Nature and Science of Medicine, 2020
Objectives: The objective of the study wasto describe the effect of nusinersen therapy and its 1st-year associated outcomes, weaning of ventilator support, and length of stay in pediatric intensive care among ventilator-dependent spinal muscular atrophy (
Fahad Alsohime, Mohamad-Hani Temsah, Muneera Al-Jelaify, Hind Ali Bafaqih, Kamal El Masri, Ahmed Abusibah, Ayman Al-Eyadhy, Gamal Hasan, Ali Alhaboob, Majed Alabdulhafid, Mohammed Abdulrahman Almazyad, Abdulaziz Alghamdi, Fahad A Bashiri   +12 more
doaj   +1 more source

Clinical impact of splicing in neurodevelopmental disorders. [PDF]

, 2020
Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ...
Farh, Kyle Kai-How, Sanders, Stephan J, Schwartz, Grace B   +2 more
core   +1 more source

Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

, 2022
Spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) are rare, inherited genetic disorders with severe mortality and morbidity. The benefits of early diagnosis and initiation of treatment are now increasingly recognized, with the ...
Chambers, GM , Farrar, MA , Keller, E , Shih, STF , Wiley, V, Wong, M   +5 more
core   +1 more source

Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen

Brain Sciences, 2021
The antisense oligonucleotide nusinersen has been shown to improve trunk and limb motor function in patients with spinal muscular atrophy (SMA). Bulbar dysfunction, which is regularly present in SMA, is not captured by standard motor scores, and ...
Svenja Brakemeier, Benjamin Stolte, Andreas Thimm, Kathrin Kizina, Andreas Totzeck, Juan Munoz-Rosales, Christoph Kleinschnitz, Tim Hagenacker   +7 more
doaj   +1 more source