Sunday, January 23, 2022

Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations

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Marta Medina-Carbonero, Arabela Sanz-Alcázar, Elena Britti, Fabien Delaspre, Elisa Cabiscol, Joaquim Ros & Jordi Tamarit. Cell. Mol. Lif...
Friday, January 21, 2022

Hsa-miR223-3p circulating level is upregulated in Friedreich’s ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1

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Andrea Quatrana, Elena Morini, Francesca Tiano, Chiara Vancheri, Luca Panarello, Silvia Romano, Christian Marcotulli, Carlo Casali, Caterina...
Tuesday, January 18, 2022

Enfermedad cardiaca en la ataxia de Friedreich. Revisión diagnóstica y terapéutica

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Sánchez Ortiz, M; Ibarra Reyes; López Pérez; Revista Ocronos. Vol. V. Nº 1–Enero 2022. Pág. Inicial: Vol. V; nº1: 91  Presentamos el caso de...
Monday, January 17, 2022

The attitude of patients with progressive ataxias towards clinical trials

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Gilbert Thomas-Black, Andrada Dumitrascu, Hector Garcia-Moreno, Julie Vallortigara, Julie Greenfield, Barry Hunt, Susan Walther, Mackenzie W...
Friday, January 14, 2022

Friedreich’s Ataxia Misdiagnosed as Lumbar Disc Prolapse: Case Report

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Naglaa Hussein, Matthew Bartels, Mohammad Dwary; Int J Phys Med Rehabil, Vol.9 Iss.5 No:1000614 Chronic low back pain not responding to the ...
Monday, January 10, 2022

TQS-168: ALS and exploratory development ongoing in Friedreich’s Ataxia and other indications

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Tranquis Therapeutics, Inc., 01/10/2022;  Our initial therapeutic candidates have been designed to cross the blood brain barrier and modula...
Sunday, January 9, 2022

Magnetic resonance imaging evaluation of spinal cord lesions: what can we find? - Part 1. Neoplastic, vascular, metabolic, and traumatic injuries

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Pereira RG, Ribeiro BNF, Pereira TRGC, Bahia PRV, Marchiori E.; Radiologia Brasileira. 2021 Nov-Dec;54(6):406-411. DOI: 10.1590/0100-3984.20...

Transcriptional Analysis of Nuclear-Encoded Mitochondrial Genes in Eight Neurodegenerative Disorders: The Analysis of Seven Diseases in Reference to Friedreich's Ataxia

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Elsadany M, Elghaish RA, Khalil AS, Ahmed AS, Mansour RH, Badr E, Elserafy M.; Front Genet. 2021 Dec 20;12:749792. doi: 10.3389/fgene.2021.7...
Saturday, January 8, 2022

The dynamin-related protein 1 is decreased and the mitochondrial network is altered in Friedreich’s ataxia cardiomyopathy

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Bojjibabu Chidipi, Mariana Burgos Angulo, Syed Islamuddin Shah, Michelle Rieser, Ganim Ullah, Thomas V. McDonald, Sami F. Noujaim; The Inter...
Wednesday, December 29, 2021

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

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Brown AF, Parkinson MH, Garcia-Moreno H, Mudanohwo E, Labrum R, Sweeney M, Giunti P.; Front Neurol. 2021 Dec 9;12:736253. doi: 10.3389/fneur...