Friday, February 2, 2018

A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N = 223,773)

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Weihua Meng, Mark J. Adams, Harry L. Hebert, Ian J. Deary, Andrew M. McIntosh, Blair H. Smith, EBioMedicine, Available online 31 January 201...

Neurology Measures in FA Children

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February 1, 2018. ClinicalTrials.gov identifier (NCT number): NCT03418740 The purpose of this study is to identify ways to follow progres...
Wednesday, January 31, 2018

Common drug review recommendations for orphan drugs in Canada: basis of recommendations and comparison with similar reviews in Quebec, Australia, Scotland and New Zealand

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John I. McCormick, L. Diana Berescu and Nabil Tadros; Orphanet Journal of Rare Diseases201813:27 doi:10.1186/s13023-018-0759-9 The positi...
Monday, January 29, 2018

Late onset friedreich ataxia presented with spastic paraparesis

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G. PSIMMENOS, N. Grigoriadis, D. Parisis, T. Afrantou, P. Ioannidis; Thessaloniki/GR; (Poster POD416) EAN Congress 2017 in Amsterdam We r...

Early onset Friedreich Ataxia without cardiomyopathy

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O. Rujan, I. BURAGA, A. Enachi, I. Ionescu, C. Baetu; Bucharest/RO; (Poster POD163) EAN Congress 2017 in Amsterdam There is a very import...

Autosomal-recessive cerebellar ataxias

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Brent L. Fogel, Handbook of Clinical Neurology, Elsevier, Volume 147, 2018, Pages 187-209, ISSN 0072-9752, ISBN 9780444632333, Doi:10.1016/B...
Wednesday, January 24, 2018

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases

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Susan Stein, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R. Kahn, Jane Larkindale and Toni Mathieson...
Thursday, January 18, 2018

Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat

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Li Liande, Shen Xiulong, Liu Zhongtian, Norrbom Michaela, Prakash Thazha P., O'Reilly Daniel, Sharma Vivek K., Damha Masad J., Watts Jon...

Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich’s ataxia fibroblasts

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De Samber B, Meul E, Laforce B, De Paepe B, Smet J, De Bruyne M, et al. (2018). PLoS ONE 13(1): e0190495. doi:10.1371/journal.pone.0190495 ...
Wednesday, January 17, 2018

Reactive Oxygen Species and Mitochondrial Dynamics: The Yin and Yang of Mitochondrial Dysfunction and Cancer Progression

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Jan Ježek, Katrina F. Cooper and Randy Strich; (Review) Antioxidants 2018, 7(1), 13; doi: 10.3390/antiox7010013 Mitochondria are organell...