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Spinal muscular atrophy - insights and challenges in the treatment era.
Mercuri E, Pera MC, Scoto M, Finkel R, Muntoni F. Mercuri E, et al. Nat Rev Neurol. 2020 Dec;16(12):706-715. doi: 10.1038/s41582-020-00413-4. Epub 2020 Oct 14. Nat Rev Neurol. 2020. PMID: 33057172 Review.
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by deletion or mutation of SMN1. ...Here, we critically review how the field is rapidly evolving in response to the new therapies and questions that the new treatments …
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by deletion or mutation of SMN1. .. …
Spinal muscular atrophy: diagnosis and management in a new therapeutic era.
Arnold WD, Kassar D, Kissel JT. Arnold WD, et al. Muscle Nerve. 2015 Feb;51(2):157-67. doi: 10.1002/mus.24497. Epub 2014 Dec 16. Muscle Nerve. 2015. PMID: 25346245 Free PMC article. Review.
Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. ...Despite the fact that understanding of how ubiquitous reduction of SMN protein leads to motor neuron loss remains incomplete, several promising …
Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. ...Despit …
Spinal Muscular Atrophy in the Treatment Era.
Waldrop MA, Elsheikh BH. Waldrop MA, et al. Neurol Clin. 2020 Aug;38(3):505-518. doi: 10.1016/j.ncl.2020.03.002. Neurol Clin. 2020. PMID: 32703464 Review.
Spinal muscular atrophy is an autosomal-recessive degenerative neuromuscular disease that has historically been categorized into 5 types based on the individual's best functional ability. Two rather remarkable treatments have recently been approved for …
Spinal muscular atrophy is an autosomal-recessive degenerative neuromuscular disease that has historically been categor …
Spinal muscular atrophy care in the COVID-19 pandemic era.
Veerapandiyan A, Connolly AM, Finkel RS, Arya K, Mathews KD, Smith EC, Castro D, Butterfield RJ, Parsons JA, Servais L, Kuntz N, Rao VK, Brandsema JF, Mercuri E, Ciafaloni E. Veerapandiyan A, et al. Muscle Nerve. 2020 Jul;62(1):46-49. doi: 10.1002/mus.26903. Epub 2020 May 3. Muscle Nerve. 2020. PMID: 32329921 Free PMC article. Review.
The coronavirus disease 2019 (COVID-19) pandemic has resulted in reorganization of healthcare settings affecting the delivery of clinical care to patients with spinal muscular atrophy (SMA). There is a concern that patients with SMA may be at increased risk o …
The coronavirus disease 2019 (COVID-19) pandemic has resulted in reorganization of healthcare settings affecting the delivery of clinical ca …
The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era.
Maretina M, Koroleva V, Shchugareva L, Glotov A, Kiselev A. Maretina M, et al. Biomedicines. 2024 Oct 30;12(11):2486. doi: 10.3390/biomedicines12112486. Biomedicines. 2024. PMID: 39595052 Free PMC article. Review.
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder that currently has an approved treatment for all forms of the disease. Previously, biomarkers were primarily used for diagnostic purposes, such as detecting the presence of the disease or …
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder that currently has an approved treatment for al …
Innovating spinal muscular atrophy models in the therapeutic era.
Signoria I, van der Pol WL, Groen EJN. Signoria I, et al. Dis Model Mech. 2023 Sep 1;16(9):dmm050352. doi: 10.1242/dmm.050352. Epub 2023 Oct 3. Dis Model Mech. 2023. PMID: 37787662 Free PMC article.
Spinal muscular atrophy (SMA) is a severe, monogenetic, neuromuscular disease. A thorough understanding of its genetic cause and the availability of robust models has led to the development and approval of three gene-targeting therapies. ...The development of …
Spinal muscular atrophy (SMA) is a severe, monogenetic, neuromuscular disease. A thorough understanding of its genetic …
Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.
Angilletta I, Ferrante R, Giansante R, Lombardi L, Babore A, Dell'Elice A, Alessandrelli E, Notarangelo S, Ranaudo M, Palmarini C, De Laurenzi V, Stuppia L, Rossi C. Angilletta I, et al. Int J Mol Sci. 2023 Oct 3;24(19):14873. doi: 10.3390/ijms241914873. Int J Mol Sci. 2023. PMID: 37834320 Free PMC article. Review.
Spinal muscular atrophy (SMA) linked to 5q is a recessive motor neuron disease characterized by progressive and diffuse weakness and muscular atrophy. ...The classification of SMA is based on the natural history of the disease, with a wide clini …
Spinal muscular atrophy (SMA) linked to 5q is a recessive motor neuron disease characterized by progressive and diffuse …
Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment.
Pierzchlewicz K, Kępa I, Podogrodzki J, Kotulska K. Pierzchlewicz K, et al. Child Neurol Open. 2021 Apr 27;8:2329048X211008725. doi: 10.1177/2329048X211008725. eCollection 2021 Jan-Dec. Child Neurol Open. 2021. PMID: 33997096 Free PMC article. Review.
Spinal muscular atrophy (SMA) is a genetic condition characterized by progressive motoneuron loss. ...Recently, 3 disease-modifying therapies have been approved for SMA patients: nusinersen, an intrathecal antisense oligonucleotide enhancing SMN protein produ …
Spinal muscular atrophy (SMA) is a genetic condition characterized by progressive motoneuron loss. ...Recently, 3 disea …
Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study.
Kariyawasam DS, D'Silva AM, Sampaio H, Briggs N, Herbert K, Wiley V, Farrar MA. Kariyawasam DS, et al. Lancet Child Adolesc Health. 2023 Mar;7(3):159-170. doi: 10.1016/S2352-4642(22)00342-X. Epub 2023 Jan 17. Lancet Child Adolesc Health. 2023. PMID: 36669516 Clinical Trial.
BACKGROUND: In light of a new therapeutic era for spinal muscular atrophy (SMA), newborn screening has been proposed as a gateway to facilitate expedient diagnosis and access to therapeutics. ...In this real-world study, we aimed to investigate …
BACKGROUND: In light of a new therapeutic era for spinal muscular atrophy (SMA), newborn screening has been prop …
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Coratti G, Ricci M, Capasso A, D'amico A, Sansone V, Bruno C, Messina S, Ricci F, Mongini T, Coccia M, Siciliano G, Pegoraro E, Turri M, Filosto M, Comi G, Masson R, Maggi L, Bruno I, D'Angelo MG, Trabacca A, Vacchiano V, Donati M, Simone I, Ruggiero L, Varone A, Verriello L, Berardinelli A, Agosto C, Pini A, Maioli MA, Passamano L, Brighina F, Carboni N, Garibaldi M, Zuccarino R, Gagliardi D, Siliquini S, Previtali S, Taruscio D, Boccia S, Pera MC, Pane M, Mercuri E; ITASMAC working group. Coratti G, et al. Neurology. 2023 Mar 14;100(11):522-528. doi: 10.1212/WNL.0000000000201654. Epub 2022 Dec 2. Neurology. 2023. PMID: 36460469 Free PMC article.
OBJECTIVE: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. ...Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (S …
OBJECTIVE: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. ...Appro …
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