Friedreich Ataxia Scientific News

Friedreich Ataxia and close related scientific news. Topics related to rare diseases.

Friday, March 15, 2019

Assessment of cell-free levels of iron and copper in patients with Friedreich’s ataxia

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Deepti PathakAchal Kumar SrivastavaSheffali GulatiMoganty R. Rajeswari; Biometals (2019). https://doi.org/10.1007/s10534-019-00186-4 The i...
Wednesday, March 13, 2019

The role of robotic gait training and tDCS in Friedrich ataxia rehabilitation: A case report

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Simona Portaro;Margherita Russo;Alessia Bramanti;Antonio Leo;Luana Billeri;Alfredo Manuli;Gianluca La Rosa;Antonino Naro;Rocco CalabrĂ²; Medi...
Tuesday, March 12, 2019

Combining nanoparticle and stem cell technologies to develop therapies for Friedreich’s ataxia

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IHMRI - Illawarra Health and Medical Research Institute.08/03/2019. Professor Mirella Dottori has been awarded a USA National Ataxia Foundat...
Monday, March 11, 2019

Abnormal Eye Movements in Parkinsonism and Movement Disorders

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Ileok Jung, Ji-Soo Kim; J Mov Disord. 2019;12(1):1-13. Published online January 30, 2019 DOI: 10.14802/jmd.18034 Friedreich ataxia (FA) i...
Sunday, March 10, 2019

Progress in understanding Friedreich’s ataxia using human induced pluripotent stem cells

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Anna M. Schreiber, Julia O. Misiorek, Jill S. Napierala & Marek Napierala (2019), Expert Opinion on Orphan Drugs, 7:2, 81-90, DOI: 10.10...
Saturday, March 9, 2019

Quantitative assessment of cerebellar ataxia, through automated limb functional tests

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Ragil Krishna, Pubudu N. Pathirana, Malcolm Horne, Laura Power and David J. Szmulewicz; Journal of NeuroEngineering and Rehabilitation 2019 ...
Friday, March 8, 2019

Identification of a novel missense mutation in Friedreich's ataxia –FXNW168R

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Clark, E. , Strawser, C. , Schadt, K. and Lynch, D. R. (2019), Ann Clin Transl Neurol. doi:10.1002/acn3.728 Friedreich's ataxia, chara...
Thursday, March 7, 2019

Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism

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Nicholas G Fox, Xiaodi Yu, Xidong Feng, Henry J Bailey, Alain Martelli, Joseph F. Nabhan, Claire Strain-Damerell, Christine Bulawa, Wyatt W....
Wednesday, March 6, 2019

Case 3: Gait Instability and Elevated Troponin Level in a 16-year-old Boy

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Carrie Johnson, Shaun Mohan; Pediatrics in Review Feb 2019, 40 (2) 85-87; DOI: 10.1542/pir.2017-0095 Given the findings of hypertrophic ca...
Tuesday, March 5, 2019

In Vitro interaction between yeast frataxin and superoxide dismutases: Influence of mitochondrial metals

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Thi Hong Lien Han, Jean-Michel Camadro, Florent Barbault, Renata Santos, Jean-Michel El Hage Chahine, Nguyet-Thanh Ha-Duong; Biochimica et B...
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