Literature DB >> 11073547

Identification of three novel frameshift mutations in patients with Friedreich's ataxia.

M A Pook, S A Al-Mahdawi, N H Thomas, R Appleton, A Norman, R Mountford, S Chamberlain.   

Abstract

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Year:  2000        PMID： 11073547      PMCID： PMC1734466          DOI： 10.1136/jmg.37.11.e38

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

Review 1.  Friedreich ataxia-update on pathogenesis and possible therapies.

Authors:  Max Voncken; Panos Ioannou; Martin B Delatycki
Journal:  Neurogenetics       Date:  2003-12-19       Impact factor: 2.660

2.  Triple therapy with darbepoetin alfa, idebenone, and riboflavin in Friedreich's ataxia: an open-label trial.

Authors:  Javier Arpa; Irene Sanz-Gallego; Francisco J Rodríguez-de-Rivera; Francisco J Domínguez-Melcón; Daniel Prefasi; Javier Oliva-Navarro; Mar Moreno-Yangüela; Samuel I Pascual-Pascual
Journal:  Cerebellum       Date:  2013-10       Impact factor: 3.847

Review 3.  Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.

Authors:  P I Patel; G Isaya
Journal:  Am J Hum Genet       Date:  2001-06-04       Impact factor: 11.025

4.  Iron in neurodegenerative disorders.

Authors:  D. Berg; G. Becker; P. Riederer; O. Riess
Journal:  Neurotox Res       Date:  2002 Nov-Dec       Impact factor: 3.911

Review 5.  Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Authors:  Renata Santos; Sophie Lefevre; Dominika Sliwa; Alexandra Seguin; Jean-Michel Camadro; Emmanuel Lesuisse
Journal:  Antioxid Redox Signal       Date:  2010-09-01       Impact factor: 8.401

6.  Frataxin gene point mutations in Italian Friedreich ataxia patients.

Authors:  Cinzia Gellera; Barbara Castellotti; Caterina Mariotti; Rossana Mineri; Viviana Seveso; Stefano Didonato; Franco Taroni
Journal:  Neurogenetics       Date:  2007-08-17       Impact factor: 2.660

Review 7.  Autosomal recessive cerebellar ataxias.

Authors:  Francesc Palau; Carmen Espinós
Journal:  Orphanet J Rare Dis       Date:  2006-11-17       Impact factor: 4.123

Review 8.  Mitochondrial dysfunction in neurodegenerative diseases.

Authors:  Anthony H V Schapira
Journal:  Neurochem Res       Date:  2008-11-08       Impact factor: 3.996

9.  IGF-1 in Friedreich's Ataxia - proof-of-concept trial.

Authors:  Irene Sanz-Gallego; Ignacio Torres-Aleman; Javier Arpa
Journal:  Cerebellum Ataxias       Date:  2014-07-04

10.  Analyzing the Effects of a G137V Mutation in the FXN Gene.

Authors:  Nathalie Faggianelli; Rita Puglisi; Liana Veneziano; Silvia Romano; Marina Frontali; Tommaso Vannocci; Silvia Fortuni; Roberto Testi; Annalisa Pastore
Journal:  Front Mol Neurosci       Date:  2015-11-25       Impact factor: 5.639
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