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Akademický článek

Quality of Life Assessment in Romanian Patients with Spinal Muscular Atrophy Undergoing Nusinersen Treatment

Autor: Bogdana Cavaloiu, Iulia-Elena Simina, Lazar Chisavu, Crisanda Vilciu, Iuliana-Anamaria Trăilă, Maria Puiu

Publikováno v: Neurology International, Vol 16, Iss 5, Pp 891-904 (2024)

Spinal muscular atrophy (SMA), identified over a century ago, is characterized by severe muscle wasting and early mortality. Despite its rarity, the high carrier frequency of the responsible genetic mutations and the variability in its manifestations

Externí odkaz: https://doaj.org/article/c1870094433440568580effd8ce7b9cf

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Akademický článek

Emergency-Driven Multiple Simultaneous Invasive Procedures in Haemophilia

Autor: Cristina Emilia Ursu, Margit Șerban, Jenel Marian Pătrașcu, Daniel Coriu, Ioana Ioniță, Adina Trăilă, Ciprian Tomuleasa, Delia Săvescu, Melen Brânză, Codruţ Ivan, Teodora Smaranda Arghirescu

Publikováno v: Life, Vol 14, Iss 9, p 1172 (2024)

Despite the controversies regarding the appropriateness and justification of simultaneous bi- and multi-concomitant surgical procedures, this operative technique is increasingly undertaken for economic reasons. This paper discusses three cases of sim

Externí odkaz: https://doaj.org/article/2bae3c07c6b143688e76d2083831958c

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Akademický článek

Nusinersen Improves Motor Function in Type 2 and 3 Spinal Muscular Atrophy Patients across Time

Autor: Bogdana Cavaloiu, Iulia-Elena Simina, Crisanda Vilciu, Iuliana-Anamaria Trăilă, Maria Puiu

Publikováno v: Biomedicines, Vol 12, Iss 8, p 1782 (2024)

Spinal muscular atrophy (SMA) is a genetic disorder primarily caused by mutations in the SMN1 gene, leading to motor neuron degeneration and muscle atrophy, affecting multiple organ systems. Nusinersen treatment targets gene expression and is expecte

Externí odkaz: https://doaj.org/article/c0d8a3f486294000b3f3080df1be6891

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