Results 81 to 90 of about 4,540 (202)

Deferiprone for the treatment of Friedreich's ataxia [PDF]

Journal of Neurochemistry, 2013
AbstractFriedreich's ataxia (FRDA) is a neurological disease related to a deficiency of the protein frataxin involved in iron–sulfur (Fe–S) cluster biogenesis. This leads to an increased cellular iron uptake accumulating in mitochondria, and a subsequently disturbed iron homeostasis.
Pandolfo, Massimo, Hausmann, Laura
openaire   +3 more sources

An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK

Movement Disorders Clinical Practice, EarlyView.
Zofia Fleszar, Gilbert Thomas‐Black, Hector Garcia‐Moreno, Arron Cook, Paola Giunti   +4 more
wiley   +1 more source

SIRT1 Prevents Ferroptosis in Corneal Epithelial Cells by Enhancing HIF1α Protein Stability in Dry Eye Disease

Advanced Science, Volume 13, Issue 26, 8 May 2026.
Hyperosmotic stress drives ferroptosis in corneal epithelium via SIRT1 downregulation. This work demonstrates that SIRT1 activation stabilizes HIF1α, which transcriptionally upregulates GPX4 to inhibit lipid peroxidation and cell death. The identified SIRT1/HIF1α/GPX4 axis reveals a novel defense mechanism and potential therapy for dry eye disease ...
Lili Lian, Zhenmin Le, Xuanqiao Ye, Zimo Wang, Jiuxiao Li, Chenyu Dong, Yetao Shen, Jiazheng Li, Yueping Ren, Xiaoyin Ma, Wei Chen, Qinxiang Zheng   +11 more
wiley   +1 more source

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Case Reports in Neurological Medicine, 2018
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years.
Vamshi K. Rao, Christine J. DiDonato, Paul D. Larsen   +2 more
doaj   +1 more source

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Analysis of Real‐World Data Utilization in the Orphan Drug Approval Process: Focusing on New Drug Marketing Applications Submitted to the FDA

Clinical Pharmacology &Therapeutics, Volume 119, Issue 5, Page 1340-1349, May 2026.
In the field of rare diseases—where traditional clinical trials are often impractical—real‐world data (RWD) have emerged as a scientifically valid alternative to support regulatory decision making. This study systematically evaluates the utilization of RWD in orphan drug approvals by the FDA Center for Drug Evaluation and Research (CDER) over the past ...
Minji Kim, Eunjin Hong
wiley   +1 more source

Friedreich's ataxia [PDF]

, 1900
A short treatise on. Friedreich's ataxia, with a discussion of the classic symptoms, a short digest of the more important pathological points, differential diagnosis, theories with regard to causation, prognosis and treatment.
Gibb, William Alexander
core  

NfL and pNfH are increased in Friedreich's ataxia.

, 2020
To assess neurofilaments as neurodegenerative biomarkers in serum of patients with Friedreich's ataxia. Single molecule array measurements of neurofilament light (NfL) and heavy chain (pNfH) in 99 patients with genetically confirmed Friedreich's ataxia ...
Liepelt, Inga, EFACTS study group, Barro, Christian, Schöls, Ludger, Kuhle, Jens, Hayer, Stefanie Nicole, Wilke, Carlo, Martus, Peter   +7 more
core   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

mRNA Lipid Nanoparticles for Cell Engineering in Vivo and in Vitro: Current Applications and Future Directions

MedComm, Volume 7, Issue 5, May 2026.
Schematic diagram of mRNA‐lipid nanoparticles (mRNA‐LNP) and its functional mechanisms, applications, and challenges in cell engineering. This figure details the structural composition of mRNA‐LNPs and the delivery strategy, highlighting three core challenges.
Lina Li, Menglan Wang, Xiuhan Ye, Zhiyan Liu, Yijing Duan, Xiaoming Chen, Yue Ouyang, Qibiao Wu, Mengjuan Sun, Tian Xie   +9 more
wiley   +1 more source