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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.
With the discovery of the intronic splicing silencer N1 (ISS-N1) as a potential target for antisense therapy, several antisense oligonucleotides (ASOs) are being developed to include exon 7 in the final mRNA transcript of the SMN2 gene and thereby increasing the production …
With the discovery of the intronic splicing silencer N1 (ISS-N1) as a potential target for antisense therapy, several antisense oligo …
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
Spinal muscular atrophy: experience in diagnosis and rehabilitation management of 60 patients.
Eng GD, Binder H, Koch B. Eng GD, et al. Arch Phys Med Rehabil. 1984 Sep;65(9):549-53. Arch Phys Med Rehabil. 1984. PMID: 6477090
Sixty patients with spinal muscular atrophy (SMA) are presented. Although the life span with Type I SMA (Werdnig-Hoffmann disease) may be short, children with the disease can be made more comfortable with appropriate medical care and parental su …
Sixty patients with spinal muscular atrophy (SMA) are presented. Although the life span with Type I SMA (Werdnig-Hoffmann d …
Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis.
Migita M, Migita M, Uchikoba Y, Orimo H, Shimada T, Shimada T, Matsumoto T, Hayakawa J, Fujino O, Saitoh M, Fukunaga Y. Migita M, et al. J Nippon Med Sch. 2003 Feb;70(1):45-8. doi: 10.1272/jnms.70.45. J Nippon Med Sch. 2003. PMID: 12646976 Free article.
We report a floppy infant with Werdnig-Hoffmann disease (spinal muscular atrophy: SMA type 1) and Klinefelter syndrome. ...However this genetic test is achieved by confirming that a specific band can not be detected by PCR. Therefore, this method should be ap …
We report a floppy infant with Werdnig-Hoffmann disease (spinal muscular atrophy: SMA type 1) and Klinefelter syndrome. …
Comparisons of eccrine sweat gland anatomy in genetic, chromosomal, and other diseases, and a suggested procedure for use of sweat gland measurements in differential diagnosis.
Shankle WR, Azen SP, Landing BH. Shankle WR, et al. Teratology. 1982 Apr;25(2):239-45. doi: 10.1002/tera.1420250213. Teratology. 1982. PMID: 6213065
Statistical analysis of the dimensions of microdissected eccrine sweat glands (duct length, coil volume, ratio of coil volume to duct length, and axis ratio of coil) was performed for several diseases (cystic fibrosis of the pancreas, Werdnig-Hoffmann disease …
Statistical analysis of the dimensions of microdissected eccrine sweat glands (duct length, coil volume, ratio of coil volume to duct length …