Tuesday, October 4, 2022

Diabetes mellitus y ataxia de Friedreich en un niño: una difícil coexistencia [Diabetes mellitus and Friedreich´s ataxia in a child: a complicated coexistence]

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Marqués Cabrero A, Expósito Raspeño M, Sánchez Escudero V, Gutiérrez Cruz N, González Vergaz A.; Arch Argent Pediatr. 2022 Oct;120(5):e223-e...
Monday, October 3, 2022

Plasma multi-omics analysis reveals very long chain ceramides as validated biomarkers of Friedreich’s ataxia

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Dezhen Wang, M. Grazia Cotticelli, Blanca E. Himes, David R. Lynch, Clementina Mesaros; medRxiv 2022.09.27.22280432; doi:10.1101/2022.09.27....

Solid Biosciences Announces Acquisition of AavantiBio and Concurrent $75 Million Private Placement

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September 30, 2022 07:00 ET | Source: Solid Biosciences Inc CHARLESTOWN, Mass. and CAMBRIDGE, Mass., Sept. 30, 2022 (GLOBE NEWSWIRE) -- Sol...

Friedreich Ataxia: An expanded access program for Elamipretide treatment

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Children's Mercy Kansas City / Children’s Mercy Research Institute.  Full Study Name: SPIES-006 This study is for participants who ...
Wednesday, September 28, 2022

Guía de Evaluación Diagnóstica y Discapacidad en Pacientes con Ataxias y Paraparesias Espásticas Hereditarias

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Francisco Javier Arpa Gutiérrez, María José Abenza Abildúa, Idoia Rouco Axpe. Sociedad Española de Neurología (2022). ISBN: 978-84-124320-4-...
Monday, September 26, 2022

The Use of Enhanced Recovery After Surgery Protocols and Sugammadex in a Friedreich Ataxia Patient Who Underwent Robotic Surgery: A Case Report of a Patient Who Required No Postoperative Opioids and Was Discharged Home Earlier Than Anticipated

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Lori P. Russo, Daniel Haddad, Daniel Bauman, Mina M. Fam (September 26, 2022). Cureus 14(9): e29590. doi:10.7759/cureus.29590 Anesthesia in ...
Sunday, September 25, 2022

The inherited cerebellar ataxias: an update

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Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M.; J Neurol. 2022 Sep 24. doi: 10.1007/s00415-022-11383-6.  We describe new ther...
Thursday, September 22, 2022

Diagnostic Delay and Clinical Features in Friedreich’s Ataxia

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Mehmet Fatih Yetkin, Murat Gültekin, Merve Akcakoyunlu, Recep Baydemir, Ayse Çağlar Sarılar, Mehmet Canpolat, Hüseyin Per; Turk Noroloji Der...
Wednesday, September 21, 2022

FRIEDREICH'S ATAXIA AND ITS CARDIOVASCULAR MANIFESTATIONS

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Bryam Esteban Coello Garcia, Karina Noemi Contreras Garcia, Priscila Jazmin Sarango Lapo, Tatiana Carolina Espinoza Coyago, Johanna Belen Il...
Monday, September 19, 2022

Gene Expression Quantification to Assess Frataxin Replacement Therapies in Friedreich’s Ataxia

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M. Baile, D. Schecter, A. Miller, T. Galas, N. Scherer, R. Chen, N. Ruiz, D. Bettoun.; Mov Disord. 2022; 37 (suppl 1). Meeting: 2022 Interna...