✦ LIBER ✦

Functional implications of a novel EA2 mutation in the P/Q-type calcium channel

✍ Scribed by Sian D. Spacey; Michael E. Hildebrand; Luke A. Materek; Thomas D. Bird; Terrance P. Snutch

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 125 KB
Volume: 56
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.20169

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

P/Q-type voltage-gated calcium channel a

P/Q-type voltage-gated calcium channel antibodies in paraneoplastic disorders of the central nervous system

✍ Raymond Voltz; Antoine F. Carpentier; Myrna R. Rosenfeld; Jerome B. Posner; Jose 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 103 KB 👁 1 views

Whether P/Q-type voltage-gated calcium channel (VGCC) antibodies are present in the serum of patients with paraneoplastic syndromes other than the Lambert-Eaton myasthenic syndrome (LEMS) and tumors other than small-cell lung cancer (SCLC) is controversial. Using a commercially available radioimmuno

Description and functional implications

Description and functional implications of a novel mutation in the sex-determining gene SRY

✍ Francis Poulat; Stephan Soullier; Catherine Gozé; Frédéric Heitz; Bernard Calas; 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English

The sex-determining gene SRY was screened for molecular alteration in an XY sex-reversed female by single-strand conformation polymorphism (SSCP) technique. An A-to-G transition was detected which leads to an exchange of a tyrosine by a cysteine in the SRY protein. The affected tyrosine residue loca

p.R254Q mutation in the aquaporin-2 wate

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation

✍ Paul JM Savelkoul; Fabrizio De Mattia; Yuedan Li; Erik-Jan Kamsteeg; Irene BM Ko 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 602 KB

Pathogenic effects of novel mutations in

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

✍ Jin-Sung Park; Prachi Mehta; Antony A. Cooper; David Veivers; André Heimbach; Ba 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 450 KB 👁 1 views

Kufor-Rakeb syndrome (KRS) is a rare form of autosomal recessive juvenile or early-onset, levodopa responsive parkinsonism and has been associated with mutations in ATP13A2(also known as PARK9), a lysosomal type 5 P-type ATPase. Recently, we identified novel compound heterozygous mutations, c.3176T4