Results 11 to 20 of about 186,376 (313)

Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey

Orphanet Journal of Rare Diseases, 2023
Background Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of care. The aim of this study was to investigate whether patients who attended specialist ataxia centres in three European
Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti   +9 more
doaj   +1 more source

Guidelines on the diagnosis and management of the progressive ataxias

Orphanet Journal of Rare Diseases, 2019
The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the lack of awareness of this group of conditions,
Rajith de Silva, Julie Greenfield, Arron Cook, Harriet Bonney, Julie Vallortigara, Barry Hunt, Paola Giunti   +6 more
doaj   +1 more source

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

Ataxia [PDF]

Continuum, 2019
This article reviews the symptoms, laboratory and neuroimaging diagnostic tests, genetics, and management of cerebellar ataxia.Recent advances in genetics have led to the identification of novel genetic causes for ataxia and a more comprehensive understanding of the biological pathways critical for normal cerebellar function.
openaire   +2 more sources

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

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

Dystonia and ataxia progression in spinocerebellar ataxias [PDF]

Parkinsonism & Related Disorders, 2017
Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known.To study clinical characteristics and ataxia progression in SCAs with and without dystonia.We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for ...
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA ( host institution ), Kuo, Pei-Hsin ( author ), Gan, Shi-Rui ( author ), Wang, Jie ( author ), Lo, Raymond Y. ( author ), Figueroa, Karla P. ( author ), Tomishon, Darya ( author ), Pulst, Stefan M. ( author ), Perlman, Susan ( author ), Wilmot, George ( author ), Gomez, Christopher M. ( author ), Schmahmann, Jeremy D. ( author ), Paulson, Henry ( author ), Shakkottai, Vikram G. ( author ), Ying, Sarah H. ( author ), Zesiewicz, Theresa ( author ), Bushara, Khalaf ( author ), Geschwind, Michael D. ( author ), Xia, Guangbin ( author ), Subramony, S.H. ( UF author ), Ashizawa, Tetsuo ( author ), Kuo, Sheng-Han ( author )   +21 more
openaire   +4 more sources

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

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