✦ LIBER ✦

Novel splice siteCACNA1Amutation causing episodic ataxia type 2

✍ Scribed by M. A. Kaunisto; H. Harno; M. Kallela; H. Somer; R. Sallinen; E. Hämäläinen; P.J. Miettinen; J. Vesa; A. Orpana; A. Palotie; M. Färkkilä; M. Wessman

Book ID: 106257050
Publisher: Springer
Year: 2004
Tongue: English
Weight: 172 KB
Volume: 5
Category: Article
ISSN: 1364-6745
DOI: 10.1007/s10048-003-0161-0

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Possible anticipation associated with a

Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2

✍ Choi, Kwang-Dong; Yook, Ji-Won; Kim, Min-Ji; Kim, Hyang-Sook; Park, Young-Eun; K 📂 Article 📅 2013 🏛 Springer Milan 🌐 English ⚖ 186 KB

Episodic ataxia type 2

✍ A. M. J. M. van den Maagdenberg; E. E. Kors; E. R. Brunt; W. van Paesschen; J. P 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 238 KB

Episodic Ataxia Type 2

✍ Michael Strupp; Andreas Zwergal; Thomas Brandt 📂 Article 📅 2007 🏛 Springer-Verlag 🌐 English ⚖ 92 KB

Premature stop codons in a facilitating

Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

✍ Tracey D. Graves; Paola Imbrici; Esther E. Kors; Gisela M. Terwindt; Louise H. E 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 513 KB

Human epilepsy, episodic ataxia type 2,

Human epilepsy, episodic ataxia type 2, and migraine

✍ M Holtmann; J Opp; M Tokarzewski; E Korn-Merker 📂 Article 📅 2002 🏛 The Lancet 🌐 English ⚖ 60 KB

G.P.18.09 Functional characterisation of

G.P.18.09 Functional characterisation of a novel mutation causing episodic ataxia type 1 occurring in the KCNA1 gene

✍ P. Imbrici; F. Gualandi; M. D’Adamo; P. Cudia; D. De Grandis; A. Ferlini; M. Pes 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 61 KB