Thursday, April 4, 2013

The effect of nicotinamide on dysregulated genes associated with frataxin deficiency in FRDA.

›
The effect of nicotinamide on dysregulated genes associated with frataxin deficiency in FRDA. Chan PK, Khadayate S; Gene Expression Omnibus...
Wednesday, April 3, 2013

Genetic and phenotypic variability of optic neuropathies.

›
Genetic and phenotypic variability of optic neuropathies. Neuhann T, Rautenstrauss B.; Expert Rev Neurother. 2013 Apr;13(4):357-67. doi: 10...

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies

›
Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies . Aurélien Bayot, Sacha Reichm...

The role of palliative care in patients with neurological diseases

›
The role of palliative care in patients with neurological diseases . Gian Domenico Borasio; Nature Reviews Neurology ,doi:10.1038/nrneurol.2...
Tuesday, April 2, 2013

Trinucleotide repeat expansions catalyzed by human cell-free extracts

›
Trinucleotide repeat expansions catalyzed by human cell-free extracts . Jennifer R Stevens, Elaine E Lahue, Guo-Min Li and Robert S Lahue. C...
Monday, April 1, 2013

A phase IIa clinical trial to test the safety and efficacy of interferon gamma treatment in elevating frataxin levels in Friedreich’s ataxia (FRDA) patients.

›
A phase IIa clinical trial to test the safety and efficacy of interferon gamma treatment in elevating frataxin levels in Friedreich’s ataxia...
Sunday, March 31, 2013

Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases

›
Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases . Jacques P Tremblay, Xiao...

Emery and Rimoin's Principles and Practice of Medical Genetics

›
Chapter 23- Diagnostic Molecular Genetics . Wayne W. Grody, Joshua L. Deignan; Emery and Rimoin's Principles and Practice of Medical Gen...

Hereditary ataxias: overview.

›
Hereditary ataxias: overview. Jayadev S, Bird TD; Genet Med advance online publication 28 March 2013 Genetics in Medicine (2013); doi:10.10...
Thursday, March 28, 2013

Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich’s ataxia

›
Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich’s ataxia . Sirena Soriano, José V. Lloren...