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Page 1
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group. Mercuri E, et al. Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29290580 Free article. Review.
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. ...In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spin …
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. . …
How does risdiplam compare with other treatments for Types 1-3 spinal muscular atrophy: a systematic literature review and indirect treatment comparison.
Ribero VA, Daigl M, Martí Y, Gorni K, Evans R, Scott DA, Mahajan A, Abrams KR, Hawkins N. Ribero VA, et al. J Comp Eff Res. 2022 Apr;11(5):347-370. doi: 10.2217/cer-2021-0216. Epub 2022 Jan 18. J Comp Eff Res. 2022. PMID: 35040693 Free article. Review.
Aim: To conduct indirect treatment comparisons between risdiplam and other approved treatments for spinal muscular atrophy (SMA). Patients & methods: Individual patient data from risdiplam trials were compared with aggregated data from published studies of nusin …
Aim: To conduct indirect treatment comparisons between risdiplam and other approved treatments for spinal muscular atrophy (SM …
Hirayama disease.
Huang YL, Chen CJ. Huang YL, et al. Neuroimaging Clin N Am. 2011 Nov;21(4):939-50, ix-x. doi: 10.1016/j.nic.2011.07.009. Neuroimaging Clin N Am. 2011. PMID: 22032508 Free article. Review.
Hirayama disease (juvenile muscular atrophy of distal upper extremity) is a cervical myelopathy. Predominantly affecting male adolescents, it is characterized by progressive muscular weakness and atrophy of distal upper limbs, followed by spontaneous arrest w …
Hirayama disease (juvenile muscular atrophy of distal upper extremity) is a cervical myelopathy. Predominantly affecting male …
Spinal muscular atrophy.
Lunn MR, Wang CH. Lunn MR, et al. Lancet. 2008 Jun 21;371(9630):2120-33. doi: 10.1016/S0140-6736(08)60921-6. Lancet. 2008. PMID: 18572081 Review.
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalised weakness. ...These and other advances in medical technology have change …
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal …
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis.
Coratti G, Cutrona C, Pera MC, Bovis F, Ponzano M, Chieppa F, Antonaci L, Sansone V, Finkel R, Pane M, Mercuri E. Coratti G, et al. Orphanet J Rare Dis. 2021 Oct 13;16(1):430. doi: 10.1186/s13023-021-02065-z. Orphanet J Rare Dis. 2021. PMID: 34645478 Free PMC article. Review.
We also report the available data collected in untreated patients using the same measures. Of the 400 papers identified searching for Nusinersen and spinal muscular atrophy, 19 reported motor function in types 2 and 3: 13 in adults, 4 in children and 2 included both …
We also report the available data collected in untreated patients using the same measures. Of the 400 papers identified searching for Nusine …
Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data.
Erdos J, Wild C. Erdos J, et al. Eur J Paediatr Neurol. 2022 Jul;39:1-10. doi: 10.1016/j.ejpn.2022.04.006. Epub 2022 Apr 30. Eur J Paediatr Neurol. 2022. PMID: 35533607 Free article. Review.
OBJECTIVES: This systematic review aimed to assess mid- and long-term (at least 12 months) real-world study data from all types of spinal muscular atrophy (SMA) patients treated with any of the approved drugs or combination therapies. ...Although stability and furth …
OBJECTIVES: This systematic review aimed to assess mid- and long-term (at least 12 months) real-world study data from all types of spinal …
[SMA: from gene discovery to gene therapy].
Barkats M. Barkats M. Med Sci (Paris). 2020 Feb;36(2):137-140. doi: 10.1051/medsci/2020010. Epub 2020 Mar 4. Med Sci (Paris). 2020. PMID: 32129749 Free article. Review. French.
Spinal muscular atrophy (SMA) is the most common genetic disease leading to infant mortality. This neuro-muscular disorder is caused by the loss or mutation of the telomeric copy of the 'survival of motor neuron' (Smn) gene, termed SMN1. ...
Spinal muscular atrophy (SMA) is the most common genetic disease leading to infant mortality. This neuro-muscular …
Onasemnogene Abeparvovec in Type 1 Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis.
Pascual-Morena C, Cavero-Redondo I, Lucerón-Lucas-Torres M, Martínez-García I, Rodríguez-Gutiérrez E, Martínez-Vizcaíno V. Pascual-Morena C, et al. Hum Gene Ther. 2023 Feb;34(3-4):129-138. doi: 10.1089/hum.2022.161. Hum Gene Ther. 2023. PMID: 36136906 Review.
One of the latest approved therapies for spinal muscular atrophy (SMA) is onasemnogene abeparvovec, which transduces motor neurons with the survival of motor neuron gene. ...
One of the latest approved therapies for spinal muscular atrophy (SMA) is onasemnogene abeparvovec, which transduces motor neu …
Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency.
Butterfield RJ. Butterfield RJ. Semin Pediatr Neurol. 2021 Jul;38:100899. doi: 10.1016/j.spen.2021.100899. Epub 2021 May 29. Semin Pediatr Neurol. 2021. PMID: 34183144 Free PMC article. Review.
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder characterized by loss of motor neurons leading to muscle weakness and atrophy. The United States' Food and Drug Administration's (FDA) approval of nusinersen, onasemnogene abeparvovec, and risdipl …
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder characterized by loss of motor neurons leading to muscle …
Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA).
Rouzier C, Chaussenot A, Paquis-Flucklinger V. Rouzier C, et al. Arch Pediatr. 2020 Dec;27(7S):7S9-7S14. doi: 10.1016/S0929-693X(20)30270-0. Arch Pediatr. 2020. PMID: 33357600 Review.
Spinal muscular atrophy (SMA) is a neuromuscular autosomal recessive disorder caused by bi-allelic pathogenic variants in the SMN1 gene. 95% of SMA patients have a SMN1 homozygous deletion. ...
Spinal muscular atrophy (SMA) is a neuromuscular autosomal recessive disorder caused by bi-allelic pathogenic variants in the …
195 results