𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

✍ Scribed by Jose Felix Martí-Massó,Alberto Bergareche…


Book ID
126341621
Publisher
Springer
Year
2013
Tongue
English
Weight
282 KB
Volume
91
Category
Article
ISSN
0946-2716

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


The novel p.L1649Q mutation in the SCN1A
✍ Kaate R.J. Vanmolkot; Elena Babini; Boukje de Vries; Anine H. Stam; Tobias Freil 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 492 KB

Familial hemiplegic migraine (FHM) is a severe subtype of migraine with hemiparesis during attacks. We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. We identified the novel p.L1649Q mutation (c.4946T>A) in Na(v)1.1 sodium channel gene SCN1A (FHM3) in a

G209A Mutation in the α-synuclein gene i
✍ Dr. Shu-Leong Ho; Michelle H. W. Kung 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 251 KB

Recent interest has focused on the largest pedigree reported to date with histologically proven Lewy body parkinsonism with an autosomal-dominant mode of transmission.' It consisted of descendants of several immigrants to the United States linked to collateral Italian descendants by a common ancesto