Sunday, October 9, 2016

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

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Gareth Baynam, Nicholas Pachter, Fiona McKenzie, Sharon Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Stephanie...
Friday, October 7, 2016

Systematic review on the evaluation criteria of orphan medicines in Central and Eastern European countries

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Tamás Zelei, Mária J. Molnár, Márta Szegedi and Zoltán Kaló. Orphanet Journal of Rare Diseases 201611:72 DOI:10.1186/s13023-016-0455-6 Publi...
Thursday, October 6, 2016

NRF2 in neurodegenerative diseases

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 Antonio Cuadrado, Current Opinion in Toxicology, Available online 3 October 2016, ISSN 2468-2020, doi:10.1016/j.cotox.2016.09.004. Neurod...
Wednesday, October 5, 2016

Mitochondrial Lon Protease in Human Disease and Aging: Including an etiologic classification of Lon-related diseases and disorders

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Daniela A. Bota, Kelvin J.A. Davies, Free Radical Biology and Medicine, Available online 5 July 2016, ISSN 0891-5849, doi:10.1016/j.freeradb...
Monday, October 3, 2016

A neurodegenerative perspective on mitochondrial optic neuropathies

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Patrick Yu-Wai-Man , Marcela Votruba, Florence Burté, Chiara La Morgia, Piero Barboni, Valerio Carelli; Review: Acta Neuropathologica pp 1-1...
Sunday, October 2, 2016

Use of CRISPR/Cas9 system to correct mutations responsible for Duchenne Muscular Dystrophy and Friedreich ataxia.

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(1888PressRelease) October 01, 2016 - MarketsandMarkets Conferences. Dr. Jacques P. Tremblay from University of Laval, Quebec joins the spea...

Late-Onset Friedreich’s Ataxia (LOFA) Mimicking Charcot–Marie–Tooth Disease Type 2: What Is Similar and What Is Different?

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Rubens Paulo A. Salomão, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Fernanda Maggi, José Luiz Pedroso , Orlando G. P. Barsottin...
Friday, September 30, 2016

Congenital and Hereditary Diseases of the Spinal Cord, Seminars in Ultrasound, CT and MRI

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Lily L. Wang, Karin S. Bierbrauer, Available online 14 July 2016, ISSN 0887-2171, doi:10.1053/j.sult.2016.07.002. Friedreich’s ataxia is a...
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...