✦ LIBER ✦

Cation binding at the node of Ranvier in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies

✍ Scribed by H. Yoshikawa; Tomoya Nishimura; Misako Kaido; Keiko Toyooka; Harutoshi Fujimura; Saburo Sakoda; Takehiko Yanagihara

Publisher: Springer-Verlag
Year: 1996
Tongue: English
Weight: 335 KB
Volume: 91
Category: Article
ISSN: 0001-6322
DOI: 10.1007/s004010050471

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Screening for Charcot-Marie-Tooth type 1

Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR

✍ A. Beckmann; J. M. Schröder 📂 Article 📅 2000 🏛 Springer-Verlag 🌐 English ⚖ 184 KB

Charcot-Marie-Tooth disease type 1A and

Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: aSacIpolymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis

✍ Christina Fuchs; Thomas Liehr; Sevinc Özbey; Arif Ekici; Holger Grehl; B. Rauten 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 263 KB

Elevated expression of messenger RNA for

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

✍ Dr. Hiroo Yoshikawa; Tomoya Nishimura; Yuji Nakatsuji; Harutoshi Fujimura; Masat 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 553 KB

The human peripheral myelin protein 22 (PMP-22) gene has been mapped to chromosome 1 7 ~1 1 . 2 in the duplicated region associated with Charcot-Marie-Tooth disease type 1A. Southern blot analysis using PMP-22 as a probe indicated that the PMP-22 gene was duplicated in 5 patients from unrelated Japa

Mutational analysis of the MPZ, PMP22 an

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

✍ Sylvia Bort; E. Nelis; Vincent Timmerman; Teresa Sevilla; Antonio Cruz-Martínez; 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 105 KB

Accumulation of peripheral myelin protei

Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A

✍ Tomoya Nishimura; H. Yoshikawa; Harutoshi Fujimura; Saburo Sakoda; Takehiko Yana 📂 Article 📅 1996 🏛 Springer-Verlag 🌐 English ⚖ 633 KB

Screening of the 17p11.2–p12 region in a

Screening of the 17p11.2–p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP)

✍ D. Kabzińska; J. Pierścińska; A. Kochański 📂 Article 📅 2009 🏛 Springer-Verlag 🌐 English ⚖ 242 KB