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Spontaneous cerebellar hemorrhage associated with a novel Notch3 mutation

✍ Scribed by Mehta, Sonal; Mehndiratta, Prachi; Sila, Cathy A.


Book ID
123135622
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
459 KB
Volume
20
Category
Article
ISSN
0967-5868

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A novel KCNA1 mutation associated with g
✍ Michelle K. Demos; Vincenzo Macri; Kevin Farrell; Tanya N. Nelson; Kristine Chap πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 457 KB

## Abstract Episodic Ataxia Type 1 is an autosomal dominant disorder characterized by episodes of ataxia and myokymia. It is associated with mutations in the __KCNA1__ voltage‐gated potassium channel gene. In the present study, we describe a family with novel clinical features including persistent