Saturday, December 6, 2025

Reliable Objective Assessment of Friedreich Ataxia Through Isolation Forest-Based Anomaly Detection

›
Ranaweera K, Randeniya M, Pathirana PN, Milne SC, Horne M, Delatycki MB, Corben LA. Reliable Objective Assessment of Friedreich Ataxia Throu...
Wednesday, November 26, 2025

A case of Friedreich Ataxia and left ventricular hypertrophy induced by FXN gene mutation

›
Zhou BY, Ren N, Zhang YY, Geng J. [A case of Friedreich Ataxia and left ventricular hypertrophy induced by FXN gene mutation]. Zhonghua Xin ...
Monday, November 24, 2025

Survival in Brazilian Patients with Friedreich´s Ataxia

›
Machado DS, Silveira C, Vinagre AM, Rezende TJR, Dogini D, Martinez ARM, França MJC. Survival in Brazilian Patients with Friedreich´s Ataxia...
Wednesday, November 19, 2025

NFS1, together with FXN, protects cells from ferroptosis and DNA damage in diffuse large B-cell lymphoma

›
Shi X, Zhao Y, Gao HY, Yang W, Liao J, Wang HH, Wang XT, Yan W. NFS1, together with FXN, protects cells from ferroptosis and DNA damage in d...

Partial Bypass of Frataxin Deficiency by ISCU M141I Restores Cytosolic and Nuclear Fe-S Cluster Assembly

›
Mosbach V, Maio N, Diedhiou N, Hennick A, Dall'Agnol L, Reutenauer L, Marczak L, Birling MC, Eisenmann A, Martelli A, Hélène PH. Partial...

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia-It Is Not Too Late

›
Reetz K, Lischewski SA, Schulz JB, Praster M, Pishnamaz M; FACROSS study group; Dogan I, Romanzetti S, Dadsena R, Konrad K, Clavel T, Jankow...

From Mutations to Microbes: Investigating the Impact of the Gut Microbiome on Repeat Expansion Disorders

›
Das S, Patel M, Khandelwal S, Rawat R, Shukla S, Kumari AP, Singh K, Kumar A. From Mutations to Microbes: Investigating the Impact of the Gu...

Mitochondria-Mediated Mechanisms of Ferroptosis in Neurological Diseases

›
Zhong R, Yang H, Li X, Wang F, Zhai L, Gao J. Mitochondria-Mediated Mechanisms of Ferroptosis in Neurological Diseases. Neurochem Res. 2025 ...
Thursday, November 13, 2025

Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseases

›
Sendtner, G.W., Muecke, M., Grigull, L. et al. Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence...
Tuesday, November 11, 2025

Deep learning-based 3D reconstruction of dentate nuclei in Friedreich’s ataxia from T2*weighted MR images

›
Trushal Sardhara, Ravi Dadsena, Roland C. Aydin, Ralf-Dieter Hilgers, Leon Horn, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti, Imis Doga...