Friedreich Ataxia Scientific News

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

Saturday, March 16, 2019

Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms

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Berntsson S, G, Gauffin H, Melberg A, Holtz A, Landtblom A, M; Stereotact Funct Neurosurg 2019. doi: 10.1159/000497165 Intrathecal baclof...
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...
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