𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy

✍ Scribed by E. Samilchuk; Brendan D’Souza; Leila Bastaki; Sadika Al-Awadi

Publisher
Springer
Year
1996
Tongue
English
Weight
54 KB
Volume
98
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular and functional analysis of int
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy
✍ Y. Sun; M. Grimmler; V. Schwarzer; F. Schoenen; U. Fischer; B. Wirth 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB

## Communicated by Mark H. Paalman The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and frequent cause of early death in childhood, is caused in 96% of patients by homozygous absence of the survival motor neuron gene (SMN1). The severity of the disease is mainly deter

In vivo activation of SMN in spinal musc
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate
✍ Lars Brichta; Irmgard Holker; Karsten Haug; Thomas Klockgether; Brunhilde Wirth 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 279 KB 👁 2 views

## Abstract ## Objective Spinal muscular atrophy results from loss of the survival motor neuron 1 (__SMN1__) gene and malfunction of the remaining __SMN2__. We investigated whether valproic acid can elevate human __SMN__ expression in vivo. ## Methods Blood was collected from 10 spinal muscular