𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Inherited neuromyotonia: A clinical and genetic study of a family

✍ Scribed by Antonio Falace; Pasquale Striano; Fiore Manganelli; Antonietta Coppola; Salvatore Striano; Carlo Minetti; Federico Zara


Book ID
116792765
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
110 KB
Volume
17
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Clinical and genetic study of a large SP
✍ Antonio Orlacchio; Toshitaka Kawarai; Fabrizio Gaudiello; Antonio Totaro; Orazio πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 173 KB

## Abstract A novel __SPG4__ 906delT frame‐shift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, s

A clinical and genetic study of familial
✍ Dr. D. M. Maraganore; A. E. Harding; C. D. Marsden πŸ“‚ Article πŸ“… 1991 πŸ› John Wiley and Sons 🌐 English βš– 591 KB

The clinical features of familial Parkinson's disease (PD) were investigated by examining the families of 20 British probands who were selected on the basis of having clinically typical PD and at least one affected relative. Forty-nine secondary cases were identified. These subjects were clinically

Clinical, histopathological and genetic
✍ Xiao-Hong Shi; Jun Han; Jin Zhang; Qi Shi; Jian-Ming Chen; Sheng-Li Xia; Zhi-Qia πŸ“‚ Article πŸ“… 2010 πŸ› Elsevier Science 🌐 English βš– 403 KB

We compared clinical data from two related Chinese patients with fatal familial insomnia (FFI) and collected information about their pedigree. The clinical features in the two cases were similar and included initial progressive insomnia and sympathetic activation, which persisted throughout the clin