𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

✍ Scribed by Sabine Rudnik-Schöneborn; Silke Vogelgesang; Sven Armbrust; Luitgard Graul-Neumann; Christoph Fusch; Klaus Zerres

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
191 KB
Volume
42
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Deletion and conversion in spinal muscul
Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
✍ Christine J. Didonato; Susan E. Ingraham; Jerry R. Mendell; Thomas W. Prior; Sha 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 787 KB

The spinal muscular atrophy-determining gene, survival motor neuron (SMN), is present in two copies, telSMN and cenSMN, which can be distinguished by base-pair changes in exons 7 and 8. The telSMN gene is often absent in spinal muscular atrophy patients, which could be due to deletion or sequence co

SMNT and NAIP mutations in Canadian fami
SMNT and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): Genotype/phenotype correlations with disease severity
✍ Simard, Louise R.; Rochette, Camille; Semionov, Alexandre; Morgan, Kenneth; Vana 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 2 views

Childhood-onset spinal muscular atrophy (SMA) is an autosomal recessive neuropathy characterized by selective degeneration of alpha-motor neuron cells of the spinal cord. Age of onset and motor development varies greatly among patients, but the molecular basis of this variability remains unclear. Th

A rare SMN2 variant in a previously unre
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
✍ Myriam Vezain; Pascale Saugier-Veber; Elisa Goina; Renaud Touraine; Véronique Ma 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 405 KB

Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by homozygous inactivation of the SMN1 (Survival Motor Neuron 1) gene. The disease severity is mainly influenced by the copy number of SMN2, a nearly identical gene from which only low amounts of full-length mRNA are produced. T