Results 1 to 10 of about 7,170 (177)

Respiratory Function in Friedreich’s Ataxia [PDF]

Children, 2022
Background: Friedreich’s ataxia is an inherited, rare, progressive disorder of children and young adults. It is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy.
Elena Vinante, Elena Colombo, Gabriella Paparella, Michela Martinuzzi, Andrea Martinuzzi   +4 more
doaj   +2 more sources

Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus [PDF]

, 2013
© 2013 Al-Mahdawi et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use,distribution, and reproduction in any medium, provided the original author and source are ...
A Dürr, A Filla, A Saveliev, A Wong, AH Koeppen, Annalisa Pastore, C Sandi, Chiranjeevi Sandi, D Globisch, E Grabczyk, E Greene, E Kim, GN Filippova, H Chen, H Holemon, H Stroud, I Castaldo, I De Biase, I De Biase, J Robertson, JL Bradley, JU Guo, KE Szulwach, M Mellén, M Pandolfo, M Tahiliani, Mark A. Pook, MC Haffner, MR Branco, MV Evans-Galea, N Chia, PK Chan, R Sharma, RD Wells, Ricardo Mouro Pinto, S Al-Mahdawi, S Kriaucionis, Sahar Al-Mahdawi, T Wang, V Campuzano, V Campuzano, Y Huang   +41 more
core   +24 more sources

Anti-gene oligonucleotides targeting Friedreich’s ataxia expanded GAA⋅TTC repeats increase Frataxin expression [PDF]

Molecular Therapy: Nucleic Acids
Friedreich’s ataxia is a progressive, autosomal recessive ataxia caused, in most cases, by homozygous expansion of GAA⋅TTC triplet-repeats in the first intron of the Frataxin gene.
Negin Mozafari, Salomé Milagres, Tea Umek, Cristina S.J. Rocha, Claudia M. Vargiu, Fiona Freyberger, Osama Saher, Marek Napierala, Jill S. Napierala, Pontus Blomberg, Per T. Jørgensen, Tanel Punga, C. I. Edvard Smith, Jesper Wengel, Rula Zain   +14 more
doaj   +2 more sources

Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich’s Ataxia Blood

Frontiers in Neuroscience, 2022
Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an intronic guanine-adenine-adenine (GAA) triplet expansion in the frataxin (FXN) gene, which leads to reduced expression of full-length frataxin (1–210) also known as isoform 1. Full-
Qingqing Wang, Qingqing Wang, Laurent Laboureur, Laurent Laboureur, Liwei Weng, Liwei Weng, Nicolas M. Eskenazi, Nicolas M. Eskenazi, Lauren A. Hauser, Lauren A. Hauser, Lauren A. Hauser, Clementina Mesaros, Clementina Mesaros, David R. Lynch, David R. Lynch, David R. Lynch, Ian A. Blair, Ian A. Blair   +17 more
doaj   +1 more source

Anesthesia Management in Scoliosis Surgery of Patients with Friedreich’s Ataxia: A Report of Four Cases

Genel Tıp Dergisi, 2022
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease, which may be accompanied by scoliosis, cardiac, endocrine and pulmonary comorbidities. We present our anesthesia experiences using total intravenous anesthesia (TIVA) method
Muhammed Köse, Ercan Bal, Şemsi Mustafa Aksoy, Ayşe Lafçı   +3 more
doaj   +1 more source

Quetiapine treatment for psychosis in friedreich’s ataxia

Psychiatry and Clinical Psychopharmacology, 2021
Friedreich’s Ataxia is the most common form of progressive spinocerebellar ataxia with mixed sensory and cerebellar components and is inherited via an autosomal-recessive gene.
Serdar Oruc, Guray Gulseren, Ozge Yilmaz Kusbeci, Mehmet Yaman, Omer Gecici   +4 more
doaj   +1 more source

Mechanism of Action of 2-Aminobenzamide HDAC Inhibitors in Reversing Gene Silencing in Friedreich’s Ataxia [PDF]

Frontiers in Neurology, 2015
The genetic defect in Friedreich's ataxia (FRDA) is the hyperexpansion of a GAA•TTC triplet in the first intron of the FXN gene, encoding the essential mitochondrial protein frataxin. Histone post-translational modifications near the expanded repeats are consistent with heterochromatin formation and consequent FXN gene silencing.
Soragni, Elisabetta, Chou, C. James, Rusche, James R., Gottesfeld, Joel M.   +3 more
openaire   +3 more sources

Cardiomyopathy of Friedreich's Disease. Modern Methods of Diagnostic

Рациональная фармакотерапия в кардиологии, 2021
Friedreich's disease is a hereditary neurodegenerative multiple organ disease, primarily affecting the most energy-dependent tissues (cells of the nervous system, myocardium, pancreas), the lesion of which is characterized by progressive ataxia ...
E. I. Fomicheva, R. P. Myasnikov, Y. A. Selivyorstov, S. N. Illarioshkin, E. L. Dadali, O. M. Drapkina   +5 more
doaj   +1 more source

Results of a randomized double‐blind study evaluating luvadaxistat in adults with Friedreich ataxia

Annals of Clinical and Translational Neurology, 2021
Objectives Friedreich ataxia (FRDA) is a rare disorder with progressive neurodegeneration and cardiomyopathy. Luvadaxistat (also known as TAK‐831; NBI‐1065844), an inhibitor of the enzyme d‐amino acid oxidase, has demonstrated beneficial effects in ...
Hao Wang, Jonathan Norton, Lin Xu, Nicholas DeMartinis, Rohini Sen, Ankit Shah, Jennifer Farmer, David Lynch   +7 more
doaj   +1 more source

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia [PDF]

, 2014
© The Author 2014. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution,
Al-Mahdawi, Al-Mahdawi, Block, Campuzano, Campuzano, Capdevila, Capdevila, Castaldo, Chantrel-Groussard, Chen, Cossee, Dewitt, Durr, Durr, Feng, Genki Hayashi, Gino Cortopassi, Harding, John W. Newman, Kang, Koeppen, Li, Liang, Lin, Lu, Mark Pook, Masi, Michael, Miranda, Node, O'Flaherty, Paupe, Piemonte, Piro, Praticò, Qin, Ristow, Rojo, Samuelsson, Sanchez-Mejia, Schulz, Shan, Shi, Shin, Small, Smith, Strokin, Tan, Teismann, Theresa L. Pedersen, Tian, Wardlaw, Wong, Wong, Xi, Yan, Yan Shen, Zhang   +57 more
core   +4 more sources