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Spinal muscular atrophy.
Arnold ES, Fischbeck KH. Arnold ES, et al. Handb Clin Neurol. 2018;148:591-601. doi: 10.1016/B978-0-444-64076-5.00038-7. Handb Clin Neurol. 2018. PMID: 29478602 Review.
Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. ...
Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the …
Nusinersen in the Treatment of Spinal Muscular Atrophy.
Goodkey K, Aslesh T, Maruyama R, Yokota T. Goodkey K, et al. Methods Mol Biol. 2018;1828:69-76. doi: 10.1007/978-1-4939-8651-4_4. Methods Mol Biol. 2018. PMID: 30171535 Review.
Here we briefly review the pharmacological relevance of the drug, clinical trials, toxicity, and future directions following the approval of nusinersen....
Here we briefly review the pharmacological relevance of the drug, clinical trials, toxicity, and future directions following the appr …
Recent Advances and Clinical Applications of Exon Inclusion for Spinal Muscular Atrophy.
Son HW, Yokota T. Son HW, et al. Methods Mol Biol. 2018;1828:57-68. doi: 10.1007/978-1-4939-8651-4_3. Methods Mol Biol. 2018. PMID: 30171534 Review.
Nusinersen (Spinraza), the first FDA-approved antisense oligonucleotide drug targeting SMA, was designed based on this concept and clinical studies have demonstrated a dramatic improvement in patients. ...
Nusinersen (Spinraza), the first FDA-approved antisense oligonucleotide drug targeting SMA, was designed based on this concept and clinic …
Newborn screening for SMA in Southern Belgium.
Boemer F, Caberg JH, Dideberg V, Dardenne D, Bours V, Hiligsmann M, Dangouloff T, Servais L. Boemer F, et al. Neuromuscul Disord. 2019 May;29(5):343-349. doi: 10.1016/j.nmd.2019.02.003. Epub 2019 Feb 15. Neuromuscul Disord. 2019. PMID: 31030938
We describe the stepwise process that led us to launch a newborn screening program for SMA in Southern Belgium. Different political, ethical, and clinical partners were informed about this project and were involved in its governance, as were genetic and screening labs. ...
We describe the stepwise process that led us to launch a newborn screening program for SMA in Southern Belgium. Different political, ethical …
A phase 1 trial of riluzole in spinal muscular atrophy.
Russman BS, Iannaccone ST, Samaha FJ. Russman BS, et al. Arch Neurol. 2003 Nov;60(11):1601-3. doi: 10.1001/archneur.60.11.1601. Arch Neurol. 2003. PMID: 14623733 Clinical Trial.
BACKGROUND: Severe spinal muscular atrophy (SMA) (Werdnig-Hoffmann disease, acute SMA, and SMA I) is a disease of the motor neuron characterized by onset before 6 months of age, failure ever to achieve sitting without support, and a life expectancy of 2 years …
BACKGROUND: Severe spinal muscular atrophy (SMA) (Werdnig-Hoffmann disease, acute SMA, and SMA I) is a disease of the m …
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function.
Pane M, Palermo C, Messina S, Sansone VA, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Brigati G, de Sanctis R, Coratti G, Lucibello S, Bertini E, Vita G, Tiziano FD, Mercuri E; Italian EAP working group. Pane M, et al. Neuromuscul Disord. 2018 Jul;28(7):582-585. doi: 10.1016/j.nmd.2018.05.010. Epub 2018 Jun 1. Neuromuscul Disord. 2018. PMID: 29960818
Spinal Muscular Atrophy Type I: Is It Ethical to Standardize Supportive Care Intervention in Clinical Trials?
Finkel RS, Bishop KM, Nelson RM. Finkel RS, et al. J Child Neurol. 2017 Feb;32(2):155-160. doi: 10.1177/0883073816671236. Epub 2016 Oct 22. J Child Neurol. 2017. PMID: 27760875 Free PMC article.
With investigational drugs for spinal muscular atrophy now in clinical trials, efficient trial design focuses on enrolling recently diagnosed infants, providing best available supportive care, and minimizing subject variation. ...We discuss how autonomy, beneficence …
With investigational drugs for spinal muscular atrophy now in clinical trials, efficient trial design focuses on enrolling rec …
Histochemistry and morphometry of Werdnig-Hoffmann disease.
Artacho Pérula E, Roldán Villalobos R, Vaamonde Lemos R. Artacho Pérula E, et al. Histol Histopathol. 1989 Jul;4(3):265-70. Histol Histopathol. 1989. PMID: 2485193
We report a case of the Werdnig-Hoffmann disease in a 4-month-old male infant. The morphological study revealed perimysial fibrosis, variability in the size of muscle fibers, absence of target fibers, few central nuclei and normality in vessels, nerves and ne …
We report a case of the Werdnig-Hoffmann disease in a 4-month-old male infant. The morphological study revealed perimys …