Results 31 to 40 of about 186,376 (313)

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

, 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, Cocozza, Sergio, Rasmussen, Astrid   +13 more
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Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Georg Auburger, Hans-Joachim Freund, Rodríguez-Labrada, Roberto, Auburger, Georg, Freund, Hans-Joachim, Velázquez-Pérez, Luis, Roberto Rodrguez-Labrada, Luis Velázquez-Pérez, Luis Velzquez-Prez, Roberto Rodríguez-Labrada   +9 more
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The Cerebellar Predictions for Social Interactions: Theory of Mind Abilities in Patients With Degenerative Cerebellar Atrophy

Frontiers in Cellular Neuroscience, 2019
Recent studies have focused on the role of the cerebellum in the social domain, including in Theory of Mind (ToM). ToM, or the “mentalizing” process, is the ability to attribute mental states, such as emotion, intentions and beliefs, to others to explain
Silvia Clausi, Silvia Clausi, Giusy Olivito, Giusy Olivito, Giusy Olivito, Michela Lupo, Libera Siciliano, Marco Bozzali, Maria Leggio, Maria Leggio   +9 more
doaj   +1 more source

Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Background: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by GAA repeat expansion in the first intron of the FXN gene, which encodes
Anjomani-Virmouni, S, Ezzatizadeh, V, Jassal Harvinder, Madhavi Sandi, Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani-Virmouni Sara, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sandi, C, Sandi Madhavi, Sandi, M, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Ezzatizadeh Vahid, Harvinder Jassal, Pook Mark A., Mark A Pook, Jassal, H   +20 more
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Emerging therapies and recent advances for Tourette syndrome

Heliyon, 2023
Tourette syndrome is the most prevalent hyperkinetic movement disorder in children and can be highly disabling. While the pathomechanism of Tourette syndrome remains largely obscure, recent studies have greatly improved our knowledge about this disease ...
Chih-Yi Chou, Julian Agin-Liebes, Sheng-Han Kuo   +2 more
doaj   +1 more source

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

, 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
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Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]

, 2014
Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Perlman, SL, Cortopassi, Gino A, Brown, B, Perlman, Susan L, McMackin, Marissa Z, Pook, MA, Wulff, H, Pook, Mark A, Jasoliya, M, Scott, Brian D, Jasoliya, Mittal, Scott, BD, Wulff, Heike, Sahdeo, S, McMackin, MZ, Sahdeo, Sunil, Cortopassi, GA, Brown, Brandon   +17 more
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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

Comparison of specialist ataxia centres with non-specialist services in terms of treatment, care, health services resource utilisation and costs in the UK using patient-reported data

BMJ Open
Objectives This study aims to assess the patient-reported benefits and the costs of coordinated care and multidisciplinary care at specialist ataxia centres (SACs) in the UK compared with care delivered in standard neurological clinics.Design A patient ...
Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Paola Giunti, Deborah Hoffman, Suzanne Booth   +6 more
doaj   +1 more source

Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]

, 2013
Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Pook, MA, Al-Mahdawi, S, Sandi, C
core   +1 more source