Saturday, July 17, 2021

Gene therapies and COVID-19 vaccines: a necessary discussion in relation with viral vector-based approaches

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Angel Aledo-Serrano, Antonio Gil-Nagel, Julian Isla, Ana Mingorance, Fernando Mendez-Hermida & Ruben Hernandez-Alcoceba; Orphanet J Rare...
Friday, July 16, 2021

Myocardial Perfusion Reserve in Children with Friedreich Ataxia

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Hutchens JA, Johnson TR, Payne RM.; Pediatric Cardiology. 2021 Jul. DOI: 10.1007/s00246-021-02675-1.  This retrospective study shows that ch...
Wednesday, July 14, 2021

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

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Nethisinghe, S.; Kesavan, M.; Ging, H.; Labrum, R.; Polke, J.M.; Islam, S.; Garcia-Moreno, H.; Callaghan, M.F.; Cavalcanti, F.; Pook, M.A.; ...

Would Francisco Soca have been the first to relate toe phenomenon as pyramidal disorders?

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élio A.G. Teive, Carlos Henrique F. Camargo, Nicolás Sommaruga, Héctor Ignacio Amorin-Costábile, Olivier Walusinski; Journal of Clinical Neu...
Sunday, July 11, 2021

A systematic review of moral reasons on orphan drug reimbursement

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Zimmermann, B.M., Eichinger, J. & Baumgartner, M.R.; Orphanet J Rare Dis 16, 292 (2021). doi:10.1186/s13023-021-01925-y This study aim...
Thursday, July 8, 2021

Stealth BioTherapeutics Joins the Rare Disease Company Coalition

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BOSTON, July 7, 2021 /PRNewswire/ -- Stealth BioTherapeutics Corp (Nasdaq: MITO).  The Coalition will engage with policy stakeholders to adv...
Wednesday, July 7, 2021

The Cost of Living with Inherited Ataxia in Ireland

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Mark J. Kelly, Petya Bogdanova-Mihaylova, Joshua Skeens, Sharon Moran, Sorcha Farrelly, Richard A. Walsh & Sinéad M. Murphy. Cerebellum ...
Tuesday, July 6, 2021

Clinical trials: regulators’ inaction has left EU registry “riddled with inaccurate and missing data”

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BMJ 2021; 374 doi: doi:10.1136/bmj.n1707 (Published 05 July 2021), Cite this as: BMJ 2021;374:n1707   Nearly 6000 clinical trial results are...

Identifying the most potent and effective treatment of Friedreich ataxia

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Brunel University London, Dr Mark Pook.  This project aims to identify the most potent and effective known drugs to investigate treatment of...
Monday, July 5, 2021

Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly

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Campbell CJ, Pall AE, Naik AR, Thompson LN, Stemmler TL.; Int J Mol Sci. 2021 Jun 2;22(11):6006. doi: 10.3390/ijms22116006.  These details s...