✦ LIBER ✦

Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy

✍ Scribed by R. L. Alford; R. L. Margolis; C. A. Ross; C. S. Richards

Publisher: Springer
Year: 1997
Tongue: English
Weight: 84 KB
Volume: 99
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050371

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Rapidly progressive sporadic dentatorubr

Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

✍ Alberto J. Espay; Catherine Bergeron; Robert Chen; Anthony E. Lang 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 215 KB

## Abstract A 48‐year‐old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevea

Sporadic case of dentatorubral pallidolu

Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions

✍ Renato P. Munhoz; Catherine Bergeron; Anthony E. Lang 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 514 KB

## Abstract We present a patient with a 14‐year course beginning at the age of 44 years with hemidystonia followed by generalized choreoathetosis, behavioral, and oculomotor disturbances. Family history and genetic testing were unrevealing. Neuropathological findings were identical to genetic denta

Dentatorubral-pallidoluysian atrophy: Cl

Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat

✍ Takeshi Ikeuchi; Reiji Koide; Hajime Tanaka; Osamu Onodera; Shuichi Igarashi; Hi 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 695 KB

## Abstract Dentatorubral‐pallidoluysian atrophy is an autosomal dominant neurodegenerative disease characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy, and dementia as well as a wide range of ages at onset. A specific unstable trinucleotide repeat expansion in a g

Brain regional differences in the expans

Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: Dentatorubral-pallidoluysian atrophy, machado-joseph disease, and spinocerebellar ataxia type 1

✍ Hideji Hashida; Dr. Jun Goto; Hiroshi Kurisaki; Hidehiro Mizusawa; Ichiro Kanaza 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 661 KB

The repeat expansion detection method in

The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations

✍ Lourdes Martorell; Miguel Angel Pujana; Victor Volpini; Aurora Sanchez; Jorge Jo 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB 👁 2 views

The repeat expansion detection (RED) method was described to detect expansions of trinucleotide repeats of unknown chromosomal location. We have improved the RED method by the use of 8-mer oligonucleotides and assessed its usefulness in 30 samples from patients with spinocerebellar ataxia type 1 (SC