✦ LIBER ✦

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C

✍ Scribed by Street, V. A.; Bennett, C. L.; Goldy, J. D.; Shirk, A. J.; Kleopa, K. A.; Tempel, B. L; Lipe, H. P.; Scherer, S. S.; Bird, T. D.; Chance, P. F.

Book ID: 118237120
Publisher: Lippincott Williams and Wilkins
Year: 2003
Tongue: English
Weight: 663 KB
Volume: 60
Category: Article
ISSN: 0028-3878
DOI: 10.1212/wnl.60.1.22

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel LITAF/SIMPLE mutation within a f

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease

✍ Ciotti, Paola; Luigetti, Marco; Geroldi, Alessandro; Capponi, Simona; Pezzini, I 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 818 KB

SIMPLE mutations in Charcot-Marie-Tooth

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

✍ Gulam Mustafa Saifi; Kinga Szigeti; Wojciech Wiszniewski; Michael E. Shy; Karen 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 511 KB

Communicated by

Myelin protein zero (MPZ) gene mutations

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

✍ Benjamin B. Roa; Laura E. Warner; Carlos A. Garcia; Donna Russo; Robert Lovelace 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 975 KB

The myelin protein zero gene (MPZ) maps to chromosome lq22-23 and encodes the most abundant peripheral nerve myelin protein. The Po protein functions as a homophilic adhesion molecule in myelin compaction. Mutations in the MPZ gene are associated with the demyelinating peripheral neuropathies Charco

A novel mutation of gap junction protein

A novel mutation of gap junction protein beta 1 gene in x-linked charcot–marie–tooth disease

✍ Sheng Dong Chen; Zheng Xi Li; Yang Tai Guan; Xia Jun Zhou; Jian Ming Jiang; Yong 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 287 KB

## Abstract Introduction: In this study we report a novel mutation in the gap junction protein beta 1 (__GJB1__) gene of a Chinese X‐linked Charcot–Marie–Tooth disease (CMTX1) family, which has specific electrophysiological characteristics. Methods: Twenty members in the family were studied by clin

Mutational analysis of GJB1, MPZ, PMP22,

Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients

✍ Milica Keckarevic-Markovic; Vedrana Milic-Rasic; Jelena Mladenovic; Jelena Dacko 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 640 KB

Myelin protein zero gene mutations in Ta

Myelin protein zero gene mutations in Taiwanese patients with Charcot–Marie–Tooth disease type 1

✍ Yi-Chung Lee; Bing-Wen Soong; Kon-Ping Lin; Hsiang-Ying Lee; Zin-An Wu; Ker-Pei 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 550 KB