Wednesday, July 28, 2021

Cardiac Involvement in Movement Disorders

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Rossi M, Wainsztein N, Merello M.; Mov Disord Clin Pract. 2021 Apr 7;8(5):651-668. doi: 10.1002/mdc3.13188. PMID: 34307738; PMCID: PMC82871...
Tuesday, July 27, 2021

Neuro-Ophthalmological Findings in Friedreich’s Ataxia

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Rojas, P.; de Hoz, R.; Cadena, M.; Salobrar-García, E.; Fernández-Albarral, J.A.; López-Cuenca, I.; Elvira-Hurtado, L.; Urcelay-Segura, J.L....
Monday, July 26, 2021

Very late-onset Friedreich’s ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type

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Tushar Ashok Vidhale, Hemant R Gupta, Rohan PJ and Charmi Gandhi; BMJ Case Reports CP 2021;14:e242073, doi:10.1136/bcr-2021-242073  This 55-...
Monday, July 19, 2021

A Study to Assess Efficacy, Long Term Safety and Tolerability of RT001 in Subjects With Friedreich's Ataxia

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UCLA Health, NCT No. NCT04102501; Phase 3   The purpose of this study is to assess the Efficacy, Long Term Safety and Tolerability of RT001 ...
Sunday, July 18, 2021

Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report

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Joana Damásio, Ana Sardoeira, Maria Araújo, Isabel Carvalho, Jorge Sequeiros & José Barros; Cerebellum & Ataxias volume 8, Article n...
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...