Results 11 to 20 of about 5,562 (221)

Psychological resilience in patients with Friedreich ataxia: a 6-year longitudinal analysis [PDF]

Neurological Research and Practice
Background Friedreich ataxia is a debilitating multisystem neurodegenerative disorder. Depression is more prevalent in individuals with Friedreich ataxia (14%-36%) than in the general European population (8.5%). While psychological resilience is known to
Ruth Eumann, Janna Krahe, Imis Dogan, Ana Sofia Costa, Jörg B. Schulz, Stella A. Lischewski, Kathrin Reetz, the FACROSS Study Group   +7 more
doaj   +2 more sources

Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA) [PDF]

Neurological Research and Practice, 2019
Introduction Currently, no treatment that delays with the progression of Friedreich ataxia is available. In the majority of patients Friedreich ataxia is caused by homozygous pathological expansion of GAA repeats in the first intron of the FXN gene ...
Kathrin Reetz, Ralf-Dieter Hilgers, Susanne Isfort, Marc Dohmen, Claire Didszun, Kathrin Fedosov, Jennifer Kistermann, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Thomas Klockgether, Massimo Pandolfo, Rudolf Korinthenberg, Philip Lavin, Geert Molenberghs, Vincenzo Libri, Paola Giunti, Richard Festenstein, Jörg B. Schulz, the EFACTS or NICOFA study group   +22 more
doaj   +2 more sources

Glial cell activation precedes neurodegeneration in the cerebellar cortex of the YG8–800 murine model of Friedreich ataxia

Neurobiology of Disease
Friedreich ataxia is a hereditary neurodegenerative disorder resulting from reduced levels of the protein frataxin due to an expanded GAA repeat in the FXN gene.
Andrés Vicente-Acosta, Saúl Herranz-Martín, Maria Ruth Pazos, Jorge Galán-Cruz, Mario Amores, Frida Loria, Javier Díaz-Nido   +6 more
doaj   +2 more sources

Epigenetic-based therapies for Friedreich ataxia [PDF]

Frontiers in Genetics, 2014
Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron of the FXN gene, leading to inhibition of FXN transcription and thus reduced ...
Chiranjeevi eSandi, Chiranjeevi eSandi, Madhavi eSandi, Sara eAnjomani-Virmouni, Sahar eAl-Mahdawi, Mark Adrian Pook   +5 more
doaj   +2 more sources

Genetics and Friedreich Ataxia

Pediatric Neurology Briefs, 2002
The effects of genetic understanding on clinical evaluation and therapy of Friedreich ataxia (FRDA) are reviewed from the University of Pennsylvania School of Medicine, Philadelphia.
J Gordon Millichap
doaj   +2 more sources

Evaluation of the Cases with Friedreich Ataxia

Gulhane Medical Journal, 2013
Friedreich ataxia is an autosomal recessive neurodegenerative disease, which is the most common cause of inherited ataxias. About 95% of the patients demonstrate an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene on chromosome 9q13. This leads to reduced levels of frataxin which has an important role in iron homeostasis. Friedreich
Kurul S.H., Yiş U., Güzel A.I., Kasap H., Başak N., Dirik E.   +5 more
core   +5 more sources

Friedreich ataxia [PDF]

BMJ, 2013
This patient describes his experience of Friedreich ataxia, from diagnosis at 14 years old to being confined to a wheelchair for nearly 30 years and developing serious problems with speech and ...
Peter, Gibilisco, Adam P, Vogel
openaire   +3 more sources

Análisis molecular en pacientes colombianos con Ataxia de Friedreich

Acta Biológica Colombiana, 2001
Identificar entre los pacientes que sufren algún tipo de ataxia hereditaria, las formas progresivas tipo Friedreich (FRDA), determinando el tipo de herencia y correlacionar el genotipo encontrado con las manifestaciones genonpicas.
C. Durán, M. Gómez, O. Pedraza, J.C. Prieto   +3 more
doaj   +1 more source

Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia [PDF]

, 2013
Copyright @ 2013 Li 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 ...
Martin B Delatycki, Voullaire, L, Lucille Voullaire, Li, L, Ioannou Panos A., Sarsero, JP, Voullaire Lucille, Li Lingli, Joseph P Sarsero, Sandi, C, Pook, MA, Delatycki, MB, Chiranjeevi Sandi, Sandi Chiranjeevi, Lingli Li, Delatycki Martin B., Pook Mark A., Panos A Ioannou, Ioannou, PA, Sarsero Joseph P., Mark A Pook   +20 more
core   +1 more source

Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich Ataxia [PDF]

, 2014
Copyright © 2014 Anjomani Virmouni 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 ...
Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani Virmouni Sara, Virmouni, SA, Sandi, C, Chiranjeevi S, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Chiranjeevi Sandi (283956), Sara Anjomani Virmouni, Mark A. Pook (126056), Pook Mark A., Mark A. Pook, Sara Anjomani Virmouni (627000), Mark A Pook, Sahar Al-Mahdawi (126054)   +17 more
core   +1 more source