Substantia nigra hypoechogenicity is not related to Friedreich ataxia

Substantia nigra hypoechogenicity is not related to Friedreich ataxia. M. Sierra, J. Infante, J. Berciano; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Pages e146-e147. http://dx.doi.org/10.1016/j.jns.2013.07.488

Our data do not support the notion that SN hypoechogenicity is related to FRDA itself, although it might be associated with RLS.

Pseudo-dominant' inheritance in Friedreich's ataxia: Clinical and genetic study of a Brazilian family

Pseudo-dominant' inheritance in Friedreich's ataxia: Clinical and genetic study of a Brazilian family. F.M. Branco Germiniani, A. Moro, R. Munhoz, W.O. Arruda, S. Raskin, A. Martinez, H.A.G. Teive; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Page e113. http://dx.doi.org/10.1016/j.jns.2013.07.381

KEYWORDS: progressive ataxia, dysarthria, dysphagia, generalized ataxia, dysmetria, loss of deep tendon reflexes, MRI, cardiomyopathy, expanded alleles, pseudodominant inheritance, intra-familial clinical polymorphism.

Chlorophyllin: A possible new therapeutic agent for increasing frataxin levels in Friedreich'/INS;s ataxia patients

Chlorophyllin: A possible new therapeutic agent for increasing frataxin levels in Friedreich'/INS;s ataxia patients. B. Sturm, B. Gmeiner, M. Hermann, B. Scheiber-Mojdehkar; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Page e71

Keywords: frataxin expression, chlorophyllins, unknown mechanism, green plant pigment chlorophyll, dietary, medicinal, antimutagenic, antigenotoxic, anticarcinogenic.

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