Monday, February 5, 2018

Jotrol IND Application Submission for MPS and Friedrich's Ataxia Imminent

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Mathew Shanley, Rare Disease Report. FEBRUARY 05, 2018 Jupiter Orphan Therapeutics, Inc. (JOT) announced this morning that it intends to s...

To study the genotype - phenotype correlation of Friedreich’s Ataxia (FRDA) patients in Indian population

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I. Ahmad, A. Kumar Srivastava, M. Faruq, V. Padma Srivastava M., Parkinsonism & Related Disorders, Volume 46, Supplement 2, January 2018...

Paediatric genomics: diagnosing rare disease in children

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Caroline F. Wright, David R. FitzPatrick & Helen V. Firth, Nature Reviews Genetics, Published online:05 February 2018, doi:10.1038/nrg.2...

Tandem repeats mediating genetic plasticity in health and disease

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Anthony J. Hannan, Nature Reviews Genetics, Published online: 05 February 2018, doi:10.1038/nrg.2017.115 Accumulating evidence suggests t...
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...