## Abstract Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin ΞΌβbinding protein 2 (__IGHMBP2__)
β¦ LIBER β¦
Spinal muscular atrophy type 1 with anti-acetylcholine receptor antibody
β Scribed by Zenichiro Kato; Michinori Funato; Kenji E. Orii; Kayoko Saito; Naomi Kondo
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 46 KB
- Volume
- 161
- Category
- Article
- ISSN
- 0340-6997
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Infantile spinal muscular atrophy with r
β
Katja Grohmann; Raymonda Varon; Piroschka Stolz; Markus Schuelke; Catrin Janetzk
π
Article
π
2003
π
John Wiley and Sons
π
English
β 213 KB
Association of spinal and bulbar muscula
β
Kenji Jinnai; Keisuke Nishimoto; Kyoko Itoh; Kozo Hashimoto; Keiichi Takahashi
π
Article
π
2004
π
John Wiley and Sons
π
English
β 176 KB
## Abstract A man with spinal and bulbar muscular atrophy (SBMA) had a short (CTG)n expansion in the myotonic dystrophy protein kinase gene as well as (CAG)n expansion in the androgen receptor gene in leukocytes. The patient had the characteristic clinical findings of SBMA, but none of myotonic dys
Respiratory failure in infants due to sp
β
Alberto Giannini; Anna Maria Pinto; Giordano Rossetti; Edi Prandi; Danilo Tizian
π
Article
π
2006
π
Springer
π
English
β 131 KB
The ultrastructure of peripheral nerve,
β
Alexander Diers; Marcel Kaczinski; Katja Grohmann; Christoph HΓΌbner; Gisela Stol
π
Article
π
2005
π
Springer-Verlag
π
English
β 841 KB
Clinical variability in distal spinal mu
β
Ulf-Peter Guenther; Lusy Handoko; Raymonda Varon; Ulrich Stephani; Chang-Yong Ts
π
Article
π
2008
π
Springer
π
English
β 485 KB