✦ LIBER ✦

Evidence of a genetic marker associated with early onset in Friedreich's ataxia

✍ Scribed by Sergio Cocozza; Antonella Antonelli; Giuseppe Campanella; Francesca Cavalcanti; Giuseppe Michele; Stefano Donato; Alessandro Filla; Antonella Monticelli; Luigi Pianese; Anna Piccinelli; Antonio Porcellini; Elena Redolfi; Stelio Varrone; Massimo Pandolfo

Publisher: Springer
Year: 1993
Tongue: English
Weight: 218 KB
Volume: 240
Category: Article
ISSN: 0340-5354
DOI: 10.1007/bf00818715

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Magnetic resonance imaging in “typical”

Magnetic resonance imaging in “typical” and “late onset” Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes

✍ G. De Michele; F. Di Salle; A. Filla; A. D'Alessio; G. Ambrosio; L. Viscardi; R. 📂 Article 📅 1995 🏛 Springer Milan 🌐 English ⚖ 713 KB

Association between trinucleotide CAG re

Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich’s ataxia patients

✍ Mohammad Mehdi Heidari; Massoud Houshmand; Saman Hosseinkhani; Shahriar Nafissi; 📂 Article 📅 2008 🏛 Springer Milan 🌐 English ⚖ 61 KB

Evidence for apolipoprotein E ε4 associa

Evidence for apolipoprotein E ε4 association in early-onset Alzheimer's patients with late-onset relatives

✍ Pérez-Tur, Jordi ;Campion, Dominique ;Martinez, Maria ;Brice, Alexis ;Tardieu, S 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 447 KB 👁 1 views

Recently several reports have extended the apolipoprotein E (AF'OE) €4 association found in late-onset Alzheimer's disease (LOAD) patients to early-onset (EO) AD patients. We have studied this question in a large population of 119 EOAD patients (onset 560 years) in which family history was carefully

Age of onset in familial early onset Alz

Age of onset in familial early onset Alzheimer's disease correlates with genetic aetiology

✍ Mullan, Michael ;Houlden, Henry ;Crawford, Fiona ;Kennedy, Angus ;Rogues, Penelo 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 183 KB 👁 2 views

Late onset Alexander’s disease presentin

Late onset Alexander’s disease presenting as cerebellar ataxia associated with a novel mutation in theGFAPgene

✍ Stephan Schmidt; Mike P. Wattjes; Wanda M. Gerding; Marjo van der Knaap 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 243 KB

Regional localization by in situ hybridi

Regional localization by in situ hybridization of a human chromosome 9 marker tightly linked to the Friedreich's ataxia locus

✍ Elena Raimondi; Antonella Antonelli; Albert J. Driesel; Massimo Pandolfo 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 345 KB

In order to determine the regional localization of the Friedreich's ataxia (FA) gene on chromosome 9, the DNA probe DR47 (D9S5), which detects a restriction fragment length polymorphism (RFLP) in tight linkage with the disease, was hybridized in situ to metaphase chromosomes. Our results enable the