✦ LIBER ✦

A clinicopathological study of a patient with familial amyotrophic lateral sclerosis associated with a two base pair deletion in the copper/zinc superoxide dismutase (SOD1) gene

✍ Scribed by J. Kadekawa; Harutoshi Fujimura; Yasuko Ogawa; Noriaki Hattori; Misako Kaido; Tomoya Nishimura; Hiroo Yoshikawa; Nobuyuki Shirahata; Saburo Sakoda; Takehiko Yanagihara

Publisher: Springer-Verlag
Year: 1997
Tongue: English
Weight: 211 KB
Volume: 94
Category: Article
ISSN: 0001-6322
DOI: 10.1007/s004010050758

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

14-3-3 proteins in Lewy body-like hyalin

14-3-3 proteins in Lewy body-like hyaline inclusions in a patient with familial amyotrophic lateral sclerosis with a two-base pair deletion in the Cu/Zn superoxide dismutase (SOD1) gene

✍ Yasuhiro Kawamoto; Ichiro Akiguchi; Harutoshi Fujimura; Yoshitomo Shirakashi; Ya 📂 Article 📅 2005 🏛 Springer-Verlag 🌐 English ⚖ 252 KB

Analysis of a genetic defect in the TATA

Analysis of a genetic defect in the TATA box of the SOD1 gene in a patient with familial amyotrophic lateral sclerosis

✍ Stephan Niemann; Wendy J. Broom; Robert H. Brown Jr. 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB

## Abstract We report a patient with autosomal‐dominant amyotrophic lateral sclerosis (ALS) and a sequence variation in the __SOD1__ promoter region, located in the conserved TATA box motif (TATAAA→TGTAAA). Functional promoter studies of this variant in an in vitro system showed moderate reduction

Molecular analysis of the superoxide dis

Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis

✍ A. García-Redondo; F. Bustos; B. Juan Y Seva; P. Del Hoyo; S. Jiménez; Y. Campos 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 277 KB

Exon 5 encoded domain is not required fo

Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two newSOD1mutations associated with familial amyotrophic lateral sclerosis

✍ James S. Zu; Han-Xiang Deng; Terence P. Lo; Hiroshi Mitsumoto; Mohamed S. Ahmed; 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 907 KB