Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats and FXN Gene Exons in Population from Western India

Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats and FXN Gene Exons in Population from Western India. Pravin D. Potdar and Aarthy Raghu; Asian Journal of Neuroscience Volume 2013 (2013), Article ID 909767, 6 pages http://dx.doi.org/10.1155/2013/909767

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Le diabète, une complication pas si rare de l’ataxie de Friedreich

Le diabète, une complication pas si rare de l’ataxie de Friedreich. E. Personeni, L. Meillet, A.S. Arbey, F. Schillo, A. Penfornis; Annales d'Endocrinologie, Volume 74, Issue 4, September 2013, Page 404. Annales d'Endocrinologie, Volume 74, Issue 4, September 2013, Pages 404, 30e Congrès de la Société Française d'Endocrinologie. http://dx.doi.org/10.1016/j.ando.2013.07.584

Multidisciplinary approach to rare diseases – Friedreich's ataxia

PP3.5 – 1554 Multidisciplinary approach to rare diseases – Friedreich's ataxia. M Malenica, M Kukuruzovic, G Krakar, L Cvitanovic-Sojat; European Journal of Paediatric Neurology, Volume 17, Supplement 1, September 2013, Page S37. http://dx.doi.org/10.1016/S1090-3798(13)70125-9

"the need for continuous multidisciplinary approach to patients with FA which in our patient so far includes a pediatric neurology specialist, pediatric cardiology specialist, pediatric nephrology specialist, physical therapy specialist, ENT specialist, ophthalmologist, and psychologist

OLIGOTHERAPEUTIC STRATEGIES FOR THE TREATMENT OF FRIEDREICH’S ATAXIA

OLIGOTHERAPEUTIC STRATEGIES FOR THE TREATMENT OF FRIEDREICH’S ATAXIA. F. Ozsolak, D. Jun Li, D. Parekh, D. Knowlton, M. Wysk, R. Subramanian, J. Barsoum RaNA Therapeutics. Poster 2269T. American Society of Human Genetics (ASHG) 2013 Annual Meeting, Octubre, 22-26, Boston.

KEYWORDS: Friedreich’s ataxia (FRDA), frataxin (FXN), non-coding RNA (ncRNA), oligonucleotide-based therapeutic approaches.

Rapid DNA Methylation Analysis of the FXN gene in Friedreich

Rapid DNA Methylation Analysis of the FXN gene in Friedreich. S. Al-Mahdawi, C. Sandi, M. A. Pook; Poster 488T. American Society of Human Genetics (ASHG) 2013 Annual Meeting, Octubre, 22-26, Boston.

KEYWORDS: Friedreich ataxia (FRDA), frataxin, epigenetic changes, heterochromatin formation, DNA methylation, GAA repeat, histone acetylation and methylation, specific ‘methylscreen’ restriction enzyme digestion, qPCR-based protocols,. to more rapidly quantify DNA methylation at four of the upstream CpG sites, rapid detection of DNA methylation.

Job Advertisement-Postdoctoral researcher in Robert Debré hospital, Paris

Job Advertisement-Postdoctoral researcher in Robert Debré hospital, Paris.

Specific focus will be on the generationof zebrafish transgenic lines using TALE Nuclease technologies

EFACTS – Recruitment Target Exceeded

EFACTS – Recruitment Target Exceeded

White Matter Changes in Patients with Friedreich Ataxia after Treatment with Erythropoietin Journal of Neuroimaging

White Matter Changes in Patients with Friedreich Ataxia after Treatment with Erythropoietin Journal of Neuroimaging . Karl Egger, Christian Clemm von Hohenberg, Michael F. Schocke, Charles R.G. Guttmann, Demian Wassermann, Marlene C. Wigand, Wolfgang Nachbauer, Christian Kremser, Brigitte Sturm, Barbara Scheiber-Mojdehkar, Marek Kubicki, Martha E. Shenton and Sylvia Boesch. Journal of Neuroimaging. doi: 10.1111/jon.12050.

The diffusivity changes appear disease unspecific.

Gene Therapy Emerges From Disgrace to Be the Next Big Thing, Again

Gene Therapy Emerges From Disgrace to Be the Next Big Thing, Again. By Carl Zimmer 08.13.13. Wired Science wired.com. Wired Science Blogs/Genetic future

The complex world of proteins: Structure, function, and oligomerization of frataxin

The complex world of proteins: Structure, function, and oligomerization of frataxin. Christopher Söderberg; University dissertation from Department of Chemistry, Lund University (2013-09-27)

Keywords: Friedreich's ataxia, Frataxin, self-assembly, protein-protein interaction, iron homeostasis, SAXS, cross-linking.

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