Thursday, September 29, 2016

A longitudinal study of the SF-36 version 2 in Friedreich ataxia

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G. Tai, L. A. Corben, E. M. Yiu and M. B. Delatycki; Acta Neurologica Scandinavica, Version of Record online: 28 SEP 2016 DOI: 10.1111/ane.1...
Wednesday, September 28, 2016

Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia

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Semiha Kurt, Betul Cevik, Durdane Aksoy, E. Irmak Sahbaz, Aslı Gundogdu Eken, and A. Nazli Basak. Case Reports in Neurological Medicine Volu...
Tuesday, September 27, 2016

Other movement disorders

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Silverdale MA, Medicine (2016), doi:10.1016/j.mpmed.2016.06.010 Structural problems usually show on cranial magnetic resonance imaging. Th...
Monday, September 26, 2016

Mitochondrial dysfunction and diabetic retinopathy

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Toke Bek, Chair, Mitochondrion, Available online 22 July 2016, ISSN 1567-7249, doi:10.1016/j.mito.2016.07.011 Friedreich's spinal atax...
Sunday, September 25, 2016

The physiological basis of therapies for cerebellar ataxias

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Hiroshi Mitoma and Mario Manto; Therapeutic Advances in Neurological Disorders September 2016 9: 396-413, doi:10.1177/1756285616648940 In ...
Saturday, September 24, 2016

Studying the pathophysiologic connection between cardiovascular and nervous systems using stem cells.

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Coskun, V. and Lombardo, D. M. (2016), J. Neurosci. Res.. doi: 10.1002/jnr.23924 Analysis of the hearts of patients with FA shows detectab...
Friday, September 23, 2016

Emerging therapies for mitochondrial disorder

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Helen Nightingale, Gerald Pfeffer, David Bargiela, Rita Horvath, Patrick F. Chinnery. Brain, 1633-1648 First published online: 3 May 2016 DO...
Thursday, September 22, 2016

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

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Mirjam Plantinga, Erwin Birnie, Kristin M Abbott, Richard J Sinke, Anneke M Lucassen, Juliette Schuurmans, Seyma Kaplan, Marian A Verkerk, A...
Wednesday, September 21, 2016

‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research

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Pauline McCormack, Anna Kole, Sabina Gainotti, Deborah Mascalzoni, Caron Molster, Hanns Lochmüller and Simon Woods; European Journal of Huma...
Monday, September 19, 2016

Longitudinal study of gait lower limb coordination and rehabilitative indications in patients affected by Ataxia of Friedreich (FRDA)

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M. Petrarca, G. Vasco, S. Gazzellini, S. Carniel, A. Pisano, E. Bertini, E. Castelli, Gait & Posture, Volume 49, Supplement 1, September...