|1.||Pandolfo, Massimo: 18 articles (08/2013 - 02/2002)|
|2.||Pastore, Annalisa: 17 articles (07/2015 - 06/2004)|
|3.||Lynch, David R: 16 articles (12/2015 - 05/2002)|
|4.||Isaya, Grazia: 16 articles (06/2015 - 02/2002)|
|5.||Puccio, Hélène: 16 articles (02/2015 - 06/2002)|
|6.||Pook, Mark A: 12 articles (09/2015 - 06/2011)|
|7.||Testi, Roberto: 12 articles (08/2015 - 04/2005)|
|8.||Gakh, Oleksandr: 12 articles (06/2015 - 08/2003)|
|9.||Boesch, Sylvia: 12 articles (06/2014 - 01/2008)|
|10.||Gottesfeld, Joel M: 11 articles (01/2015 - 08/2006)|
|1.||Friedreich Ataxia (Friedreich's Ataxia)
12/01/2015 - "Ongoing Phase II and III trials in both adults and children with FRDA were preceded by a small Phase I, open-label trial in children that showed that IFN-γ-1b was reasonably well-tolerated and improved overall neurological function as measured by the Friedreich Ataxia Rating Scale after 12 weeks of treatment, though the primary outcome measure of frataxin level showed no improvement. "
05/01/2014 - "It has recently been reported that rhuEPO increases frataxin levels in combination with clinical improvement in rhuEPO treated patients with Friedreich ataxia (FRDA). "
01/01/2014 - "An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models."
05/01/2014 - "This brain imaging study investigates cerebello-cerebral white matter connectivity in Friedreich ataxia with diffusion MRI and tractography performed in 13 individuals homozygous for a GAA expansion in intron one of the frataxin gene and 14 age- and gender-matched control participants. "
04/01/2009 - "We used the yeast (Saccharomyces cerevisiae) model of Friedreich's ataxia to study the physiological consequences of modulating the expression of the frataxin gene (YFH1). "
|2.||Neurodegenerative Diseases (Neurodegenerative Disease)
01/01/2008 - "Lack of acute toxicity, normalization of frataxin levels and of the transcription profile changes resulting from frataxin deficiency provide strong support to a possible efficacy of this or related compounds in reverting the pathological process in Friedreich ataxia, a so far incurable neurodegenerative disease."
05/01/2015 - "Frataxin (Yfh1 in yeast) is a conserved protein and deficiency leads to the neurodegenerative disease Friedreich's ataxia. "
04/01/2015 - "Friedreich's ataxia (FA) is a recessive, predominantly neurodegenerative disorder caused in most cases by mutations in the first intron of the frataxin (FXN) gene. "
03/01/2015 - "Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a GAA repeat expansion mutation within intron 1 of the FXN gene, resulting in reduced levels of frataxin protein. "
01/01/2015 - "Friedreich ataxia (FRDA) is a progressive inherited neurodegenerative disorder caused by mutation of the FXN gene, resulting in decreased frataxin expression, mitochondrial dysfunction and oxidative stress. "
|3.||Hypertrophic Cardiomyopathy (Asymmetric Septal Hypertrophy)
08/01/2005 - "Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy."
01/01/2001 - "The second example is Friedreich's ataxia in which, within 3 years of the discovery of the pathogenic mechanism, the deficiency in frataxin and its intra-cellular toxic consequences have been demonstrated, leading to a logical medical therapy which proves to be effective in treating (and maybe in preventing) the severe hypertrophic cardiomyopathy associated to this disease."
12/01/2010 - "In the two other patients, hypertrophic cardiomyopathy was a significant feature that has been attributed to moonlighting proteolytic activity of monomeric DLD, which can degrade other mitochondrial proteins, such as frataxin. "
08/01/2005 - "We hypothesized that heterozygous mutations in frataxin may mimic or modify hypertrophic cardiomyopathy. "
01/01/2001 - "In conclusion, the size of the GAA repeat on the smaller allele in the frataxin gene is associated with the degree of left ventricular hypertrophy in patients with Friedreich's ataxia but is not related to the severity of hypertrophic cardiomyopathy."
06/03/2012 - "Mutations of the frataxin gene give the most common underlying genetic background of recessively inheritable type ataxias in Europe. "
12/01/2011 - "Frataxin levels increased significantly over 3 months, while ataxia rating did not reveal clinical improvement. "
08/15/2011 - "Skeletal-muscle frataxin values correlated with ataxia using the Scale for the Assessment and Rating of Ataxia score. "
01/01/2011 - "Frataxin/CyaY is a highly conserved protein implicated in an incurable ataxia in humans. "
06/01/2010 - "Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene."
|6.||MM Form Creatine Kinase
|7.||Recombinant Interferon-gamma (Interferon gamma, Recombinant)
|8.||Polyethylene Glycols (Polyethylene Glycol)
|2.||Renal Dialysis (Hemodialysis)