Sunday, February 4, 2018

Serum uric acid in Friedreich Ataxia

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Tommaso Schirinzi, Gessica Vasco, Ginevra Zanni, Sara Petrillo, Fiorella Piemonte, Enrico Castelli, Enrico Silvio Bertini, Clinical Biochemi...

Differential gene expression analysis reveals pathway based functional association of dysregulated genes in Friedreich’s ataxia

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H.N. Singh, V. Swarup, A.K. Srivastava, Parkinsonism & Related Disorders, Volume 46, Supplement 2, January 2018, Page e34, ISSN 1353-802...

Sequence-specific DNA Binding Pyrrole–Imidazole Polyamides and Their Applications

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Yusuke Kawamoto, Toshikazu Bando, Hiroshi Sugiyama, Bioorganic & Medicinal Chemistry, Available online 1 February 2018, ISSN 0968-0896, ...

Prevalence of hemochromatosis (HFE) gene mutations in Friedreich’s Ataxia patients and peripheral neuropathy

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I. Singh, S. Shakya, R.K. Singh, V. Goyal, A.K. Srivastava, Parkinsonism & Related Disorders, Volume 46, Supplement 2, January 2018, Pag...
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...