✦ LIBER ✦

Retinopathy associated with Machado–Joseph disease (spinocerebellar ataxia 3) with CAG trinucleotide repeat expansion

✍ Scribed by Yasushi Isashiki; Yuya Kii; Norio Ohba; Masanori Nakagawa

Book ID: 117017584
Publisher: Elsevier Science
Year: 2001
Tongue: English
Weight: 284 KB
Volume: 131
Category: Article
ISSN: 0002-9394
DOI: 10.1016/s0002-9394(00)00891-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Somatic mosaicism of the CAG repeat expa

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease

✍ Géraldine Cancel; Isabelle Gourfinkel-An; Giovanni Stevanin; Olivier Didierjean; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB 👁 1 views

An expanded and unstable CAG repeat in the coding region of the MJD1 gene is the mutation responsible for spinocerebellar ataxia 3/Machado-Joseph disease. In order to determine whether there was a higher degree of instability in affected regions, the size of the expanded CAG repeat was analyzed in d

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

Vestibulo-ocular arreflexia in families

Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease)

✍ Gordon, C R 📂 Article 📅 2003 🏛 BMJ Publishing Group 🌐 English ⚖ 331 KB

Vergence disorders in patients with spin

Vergence disorders in patients with spinocerebellar ataxia 3/Machado–Joseph disease: a synoptophore study

✍ Yasumasa Ohyagi; Takeshi Yamada; Akira Okayama; Nobutaka Sakae; Takao Yamasaki; 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 65 KB

CAG repeat expansion of Machado-Joseph d

CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype

✍ Hidenao Sasaki; Akemi Wakisaka; Toshiyuki Fukazawa; Kiyoshi Iwabuchi; Takeshi Ha 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 714 KB

Genetic testing in spinocerebellar ataxi

Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease

✍ YR Wu; HY Lin; CM Chen; K Gwinn-Hardy; LS Ro; YC Wang; SH Li; JC Hwang; K Fang; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 111 KB