Sunday, June 26, 2011

The Fitts task reveals impairments in planning and online control of movement in Friedreich ataxia: reduced cerebellar-cortico connectivity?

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Neuroscience, doi:10.1016/j.neuroscience.2011.06.057, Available online 25 June 2011. Louise A. Corben 1, 2, Nellie Georgiou-Karistianis 2,...

Case Report : Massive uterine leiomyoma in a patient with Friedreich’s ataxia: Is there a possible association?

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Case Reports in Medicine, Received 26 May 2011; Accepted 24 June 2011 Evangelos Misiakos, Elli Siama, Dimitrios Schizas, Constantinos Petr...
Wednesday, June 22, 2011

Echocardiography: A Requisite Friend of the Cardiac Geneticist

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Journal of the American Society of Echocardiography Volume 24, Issue 7 , Pages 790-791, July 2011 Keywords: role of echocardiography in t...

To Be Targeted: Is the Magic Bullet Concept a Viable Option for Synthetic Nucleic Acid Therapeutics?

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Human Gene Therapy. Ahead of print. doi:10.1089/hum.2011.065. Manfred Ogris and Ernst Wagner. Pharmaceutical Biotechnology, Ludwig Maxim...
Monday, June 20, 2011

Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia

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Movement Disorders, 26: n/a. doi: 10.1002/mds.23789 Article first published online: 20 JUN 2011 Nachbauer, W., Wanschitz, J., Steinkellne...

Brain Implant Uses The Body's Skin Like A Conductor To Wirelessly Transmit The Brain's Neural Signals To Control A Computer

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Medical News Today, Article Date: 17 Jun 2011 A brain implant developed at the University of Michigan uses the body's skin like a condu...
Sunday, June 19, 2011

Pricing and reimbursement of orphan drugs: the need for more transparency

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Steven Simoens Orphanet Journal of Rare Diseases 2011, 6:42doi:10.1186/1750-1172-6-42 Published: 17 June 2011 OPEN ACCES Abstract (pr...
Thursday, June 16, 2011

Neurodegeneration in friedreich's ataxia is associated with a mixed activation pattern of the brain. A fMRI study.

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Hum Brain Mapp. 2011 Jun 14. doi: 10.1002/hbm.21319. [Epub ahead of print] Ginestroni A, Diciotti S, Cecchi P, Pesaresi I, Tessa C, Gianne...
Tuesday, June 14, 2011

Friedreich’s ataxia variants I154F and W155R diminish frataxin-based activation of the iron-sulfur cluster assembly complex

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Biochemistry, Just Accepted Manuscript, DOI: 10.1021/bi200666h Publication Date (Web): June 14, 2011 Chi-Lin Tsai , Jennifer Bridwell-Rab...
Sunday, June 12, 2011

New project: Identification of the E3 ligase that ubiquitinates frataxin

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Principal researcher: Dr Roberto Testi, Department of Experimental Medicine, University of Rome, ‘Tor Vergata,’ Italy Keywods: frataxin, ...