Results 11 to 20 of about 3,629 (136)

Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy

Annals of Noninvasive Electrocardiology, 2021
Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of ...
Sandra Mastroianno, Michele Germano, Angela Maggio, Raimondo Massaro, Domenico Rosario Potenza, Aldo Russo, Massimo Carella, Giuseppe Di Stolfo   +7 more
doaj   +1 more source

Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study. [PDF]

PLoS ONE, 2016
Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the ...
Gessica Vasco, Simone Gazzellini, Maurizio Petrarca, Maria Luisa Lispi, Alessandra Pisano, Marco Zazza, Gessica Della Bella, Enrico Castelli, Enrico Bertini   +8 more
doaj   +1 more source

FDA Approves Omaveloxolone based on Successful Moxie Trial Results for Friedreich's Ataxia - Review

Journal of Education, Health and Sport, 2023
Introduction: In recent years, the medical community has witnessed a significant breakthrough in the treatment of Friedreich's Ataxia (FRDA), a rare and debilitating genetic disorder affecting the nervous system.
Krzysztof Kania, Joanna Kania, Karolina Niekurzak, Maciej Jędrak, Maciej Józefiak, Piotr Sobkiewicz   +5 more
doaj   +1 more source

Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich’s Ataxia

Frontiers in Neuroscience, 2020
The identification of efficient markers of disease progression and response to possibly effective treatments is a key priority for slowly progressive, rare and neurodegenerative diseases, such as Friedreich’s ataxia.
Marinela Vavla, Marinela Vavla, Filippo Arrigoni, Nicola Toschi, Nicola Toschi, Denis Peruzzo, Maria Grazia D’Angelo, Sandra Gandossini, Annamaria Russo, Eleonora Diella, Stefania Tirelli, Roberto Salati, Alessandra Rufini, Alessandra Rufini, Ivano Condo, Roberto Testi, Roberto Testi, Andrea Martinuzzi   +17 more
doaj   +1 more source

Additional file 1: of Correlation between frataxin expression and contractility revealed by in vitro Friedreichâ s ataxia cardiac tissue models engineered from human pluripotent stem cells

, 2019
Figure S1. Percentage yield of cardiomyocytes differentiated from various hESC and hiPSC cell lines. Table S1. Electrophysiological parameters of hvCAS. (PDF 145 kb)
Wong, Andy, Wong, Gabriel, Shen, Michael, Chow, Maggie, Tse, Wan, Gurung, Bimal, Mak, Suet, Lieu, Deborah, Costa, Kevin, Chan, Camie, Martelli, Alain, Nabhan, Joseph, Li, Ronald   +12 more
openaire   +1 more source

Sensory ataxia and cardiac hypertrophy caused by neurovascular oxidative stress in chemogenetic transgenic mouse lines

Nature Communications, 2023
Oxidative stress is associated with cardiovascular and neurodegenerative diseases. Here we report studies of neurovascular oxidative stress in chemogenetic transgenic mouse lines expressing yeast D-amino acid oxidase (DAAO) in neurons and vascular ...
Shambhu Yadav, Markus Waldeck-Weiermair, Fotios Spyropoulos, Roderick Bronson, Arvind K. Pandey, Apabrita Ayan Das, Alexander C. Sisti, Taylor A. Covington, Venkata Thulabandu, Shari Caplan, William Chutkow, Benjamin Steinhorn, Thomas Michel   +12 more
doaj   +1 more source

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Orphanet Journal of Rare Diseases, 2022
Background Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were developed in 2014. However, the lack
Louise A. Corben, Veronica Collins, Sarah Milne, Jennifer Farmer, Ann Musheno, David Lynch, Sub Subramony, Massimo Pandolfo, Jörg B. Schulz, Kim Lin, Martin B. Delatycki, the Clinical Management Guidelines Writing Group   +11 more
doaj   +1 more source

In vivo overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency

Molecular Therapy: Methods & Clinical Development, 2022
Friedreich's ataxia is a rare disorder resulting from deficiency of frataxin, a mitochondrial protein implicated in the synthesis of iron-sulfur clusters.
Claudia Huichalaf, Tyler L. Perfitt, Anna Kuperman, Renea Gooch, Ramesh C. Kovi, Karrie A. Brenneman, Xian Chen, Dinesh Hirenallur-Shanthappa, Tiffany Ma, Basel T. Assaf, Ingrid Pardo, Tania Franks, Laura Monarski, Ting-Wen Cheng, Kevin Le, Chunyan Su, Suryanarayan Somanathan, Laurence O. Whiteley, Christine Bulawa, Marko J. Pregel, Alain Martelli   +20 more
doaj   +1 more source

Predictors of loss of ambulation in Friedreich's ataxia

EClinicalMedicine, 2020
Background: Friedreich's ataxia (FRDA) is a characterized by progressive loss of coordination and balance leading to loss of ambulation (LoA) in nearly all affected individuals.
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
doaj   +1 more source

Light‐Controlled Modulation of 15‐Lipoxygenase‐1 Regulates Intestinal Inflammatory Signaling

Angewandte Chemie, EarlyView.
The developed target‐guided strategy enables the rational design of diazo‐based photoswitchable inhibitors of 15‐lipoxygenase‐1. Distinct molecular architectures program opposite light‐dependent activity, allowing on‐demand control of enzyme inhibition.
Anastasia Louka, Eirini‐Eleni Kalaitzaki, Athanasios Panousis, Sotirios Bonoras, Charalampos Livas, George Froudakis, Ioannis Drygiannakis, Athina Damianaki, George Kolios, Vassilis Valatas, Nikolaos Eleftheriadis   +10 more
wiley   +2 more sources