✦ LIBER ✦

Diagnosis and treatment of Friedreich ataxia: a European perspective

✍ Scribed by Schulz, Jörg B.; Boesch, Sylvia; Bürk, Katrin; Dürr, Alexandra; Giunti, Paola; Mariotti, Caterina; Pousset, Francoise; Schöls, Ludger; Vankan, Pierre; Pandolfo, Massimo

Book ID: 125420811
Publisher: Nature Publishing Group
Year: 2009
Tongue: English
Weight: 879 KB
Volume: 5
Category: Article
ISSN: 1759-4758
DOI: 10.1038/nrneurol.2009.26

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis of friedreich ataxia

✍ Wallis, J. ;Shaw, J. ;Wilkes, D. ;Farrall, M. ;Williamson, R. ;Chamberlain, S. ; 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 289 KB 👁 2 views

Prenatal diagnosis of Friedreich ataxia

✍ Massimo Pandolfo; Laura Montermini 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 110 KB 👁 2 views

Friedreich ataxia (FRDA) is an autosomal recessive disorder, the most common of the inherited ataxias. It has an estimated prevalence of 1 in 50 000 and a carrier frequency of about 1 in 90 in Caucasians (Cosse ´e et al., 1997;Leone et al., 1990). It is extremely rare among the Chinese and Japanese

Atlas of Genetic Diagnosis and Counselin

Atlas of Genetic Diagnosis and Counseling || Friedreich Ataxia

✍ Chen, Harold 📂 Article 📅 2012 🏛 Springer US ⚖ 192 KB

Evaluating the progression of Friedreich

Evaluating the progression of Friedreich ataxia and its treatment

✍ Martin B. Delatycki 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 239 KB

Diagnosis and treatment of chronic const

Diagnosis and treatment of chronic constipation – a European perspective

✍ J. Tack; S. Müller-Lissner; V. Stanghellini; G. Boeckxstaens; M. A. Kamm; M. Sim 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 523 KB

A High-Throughput Assay for Frataxin All

A High-Throughput Assay for Frataxin Allows for Newborn Screening, Diagnosis, and Treatment Monitoring of Friedreich Ataxia

✍ Goldstein, A. 📂 Article 📅 2013 🏛 American Association for Clinical Chemistry 🌐 English ⚖ 42 KB