Sunday, October 1, 2023

Neurologic orphan diseases: Emerging innovations and role for genetic treatments

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Kioutchoukova IP, Foster DT, Thakkar RN, Foreman MA, Burgess BJ, Toms RM, Molina Valero EE, Lucke-Wold B. Neurologic orphan diseases: Emergi...

Benefits of Adaptive Sport on Physical and Mental Quality of Life in People with Physical Disabilities: A Meta-Analysis

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Isidoro-Cabañas E, Soto-Rodríguez F, Morales-Rodríguez F, Pérez-Mármol J. Benefits of Adaptive Sport on Physical and Mental Quality of Life ...

Comparison of Live and Remote Video Ratings of the Scale for Assessment and Rating of Ataxia

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Taheri Amin A, Faber J, Önder D, et al. Comparison of Live and Remote Video Ratings of the Scale for Assessment and Rating of Ataxia; Moveme...

Pre-Validation of a Virtual Reality Tool to Quantify the Severity of Friedreich's Ataxia

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K. Chenier, A. Duquette, L. Touma, M. T. Le and D. R. Labbe, "Pre-Validation of a Virtual Reality Tool to Quantify the Severity of Frie...
Thursday, September 28, 2023

CRISPR/Cas9-Based Edition of Frataxin Gene in Dictyostelium discoideum

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Hernan Gustavo Gentili, María Florencia Pignataro, Justo Facundo Olmos, María Florencia Paván, Lorena Itatí Ibáñez, Javier Santos, Francisco...
Wednesday, September 27, 2023

Long non-coding RNA TUG1 is down-regulated in Friedreich's ataxia

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Long non-coding RNA TUG1 is down-regulated in Friedreich's ataxia. Mert Koka, Hui Li, Rumana Akther, Susan Perlman, Darice Wong, Brent L...
Monday, September 25, 2023

Innovative thinking of clinical investigation for rare disease drug development

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Wang, P., Chow, SC. Innovative thinking of clinical investigation for rare disease drug development. Orphanet J Rare Dis 18, 299 (2023). doi...

Periodontal Treatment of Norwegian Patients With Rare Diseases: A Commentary

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Øystein Fardal, Irene Skau, Jostein Grytten, Periodontal Treatment of Norwegian Patients With Rare Diseases: A Commentary, International Den...
Wednesday, September 20, 2023

Analytical Method and Stability Study for Oral Suspension of Idebenone in Syrspend

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Porru, E.; Piro, F.; Comito, R.; Mosendz, A.; Minniti, E.; Conti, M.; Stancari, A.; Violante, F.S. Analytical Method and Stability Study for...

Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application

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Maheshwari S, Vilema-Enríquez G, Wade-Martins R. Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease ...