Wednesday, February 7, 2018

New Approaches to Exciting Exergame-Experiences for People with Motor Function Impairments

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Eckert, M.; Gómez-Martinho, I.; Meneses, J.; Martínez, J.-F.; Sensors 2017, 17, 354. doi:10.3390/s17020354              OPEN ACCESS The w...

ISCU(M108I) and ISCU(D39V) differ from wild type ISCU in their failure to form cysteine desulfurase complexes containing both frataxin and ferredoxin

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Kai Cai, Ronnie O. Frederick, Marco Tonelli, and John L. Markley; Biochemistry, Just Accepted Manuscript DOI: 10.1021/acs.biochem.7b01234 ...
Tuesday, February 6, 2018

Idebenone: Novel Strategies to Improve Its Systemic and Local Efficacy

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Lucia Montenegro, Rita Turnaturi, Carmela Parenti and Lorella Pasquinucci; Nanomaterials 2018, 8(2), 87; doi:10.3390/nano8020087 The key r...
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, ...