Results 21 to 30 of about 202,258 (245)

Patient pathways for rare diseases in Europe: ataxia as an example

Orphanet Journal of Rare Diseases, 2023
Background Progressive ataxias are rare and complex neurological disorders that represent a challenge for the clinicians to diagnose and manage them.
Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris, Paola Giunti   +9 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

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life [PDF]

, 2007
Friedreich ataxia (FRDA) patients are homozygous for expanded GAA triplet-repeat alleles in the FXN gene. Primary neurodegeneration involving the dorsal root ganglia (DRG) results in progressive ataxia.
Ramussen, A, De Biase, Irene, Monticelli, A, Bidichandani, Sanjay I., De Biase, I, Al-Mahdawi, S, Pook, Mark, Cocozza, S, Al-Mahdawi, Sahar, Pook, M A, Bidichandani, S, Monticelli, Antonella, Rasmussen, Astrid, Cardone MF, RASMUSSEN A, D'ADDABBO, PIETRO, Teti MG, POOK M, Misceo D, MONTICELLI A, ARCHIDIACONO, Nicoletta, VENTURA, MARIO, BIDICHANDANI SI, ROCCHI, Mariano, COCOZZA, SERGIO, Capozzi O, Lomiento M, DE BIASE I, AL MAHDAWI S, Roberto R   +29 more
core   +1 more source

Epigenetic-based therapies for Friedreich ataxia [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron
Madhavi Sandi, Al-Mahdawi, S, Sahar eAl-Mahdawi, Chiranjeevi eSandi, Madhavi eSandi, Sara eAnjomani-Virmouni, Sandi, C, Virmouni, SA, Sandi, M, Pook, MA, Mark Adrian Pook, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sara Anjomani Virmouni, Mark A. Pook   +14 more
core   +1 more source

The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice [PDF]

, 2009
Ataxia represents a pathological coordination failure that often involves functional disturbances in cerebellar circuits. Purkinje cells (PCs) characterize the only output neurons of the cerebellar cortex and critically participate in regulating motor ...
Kneussel Matthias, Loebrich, S, Sven Loebrich, Hevers, Wulf, Michaela Schweizer, Eilers, Jens, Đikić, Ivan, Corinna Lappe-Siefke, Wilson, Scott M., Scott M Wilson, Waidmann Oliver B., Fehr Susanne, Schweizer, M, Kneussel, Matthias, Oliver B Waidmann, Fritschy Jean-Marc, Jean-Marc Fritschy, Wilson, S M, Schweizer Michaela, Jens Eilers, Eilers, J, Fritschy, Jean-Marc, Ivan Dikic, Fritschy, J M, Dikic, I, Schweizer, Michaela, Eilers Jens, Susanne Fehr, Waidmann, O B, Wilson Scott M., Fehr, Susanne, Matthias Kneussel, Fehr, S, Lappe-Siefke, Corinna, Waidmann, Oliver, Dikic Ivan, Loebrich Sven, Hevers Wulf, Lappe-Siefke, C, Hevers, W, Kneussel, M, Löbrich, Sven, Wulf Hevers, Lappe-Siefke Corinna   +43 more
core   +2 more sources

Ataxia telangiectasia: a review

Orphanet Journal of Rare Diseases, 2016
Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford, Howard M. Lederman   +5 more
doaj   +1 more source

Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model [PDF]

, 2011
NOTICE: this is the author’s version of a work that was accepted for publication in Neurobiology of Disease. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control ...
Ezzatizadeh, V, Rusche, James R., Steve Jones, James R. Rusche, Gottesfeld, Joel M., Jones, S, Sandi, C, Barnes, Glenn, Joel M. Gottesfeld, Pook, MA, Pinto, RM, Al-Mahdawi, Sahar, Chiranjeevi Sandi, Sandi, Chiranjeevi, Barnes, G, Mark A. Pook, Pinto, Ricardo Mouro, Al-Mahdawi, S, Jones, Steve, Pook, Mark A., Vahid Ezzatizadeh, Ezzatizadeh, Vahid, Sahar Al-Mahdawi, Rusche, JR, Ricardo Mouro Pinto, Gottesfeld, JM, Glenn Barnes   +26 more
core   +1 more source

Genotype and phenotype characterisation of Friedreich ataxia mouse models and cells [PDF]

, 2013
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel UniversityFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene ...
Anjomani Virmouni, Sara
core   +7 more sources

Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia

Tomography, 2021
Ocular abnormalities occur frequently in Friedreich’s ataxia (FRDA), although visual symptoms are not always reported. We evaluated a cohort of patients with FRDA to characterise the clinical phenotype and optic nerve findings as detected with optical ...
Petya Bogdanova-Mihaylova, Helena Maria Plapp, Hongying Chen, Anne Early, Lorraine Cassidy, Richard A. Walsh, Sinéad M. Murphy   +6 more
doaj   +1 more source

Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model [PDF]

, 2012
Copyright © The Author 2012. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits ...
B. Tomassini, I. Condo, Ezzatizadeh, V, Condò, I, TOMASSINI, BARBARA, Sandi, C, Testi, R, Al Mahdawi, S, Arcuri, G, Pook, M, C. Sandi, Malisan, F, R. Testi, S. Fortuni, M. Pook, V. Ezzatizadeh, Tomassini, B, MALISAN, FLORENCE, Fortuni, S, Al-Mahdawi, S, S. Al Mahdawi, TESTI, ROBERTO, G. Arcuri, CONDO', IVANO, Casali, C, F. Malisan, CASALI, Carlo   +26 more
core   +1 more source