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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, 2024-09, Vol.14 (9), p.e084865

2024

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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Brain (London, England : 1878), 2014-09, Vol.137 (Pt 9), p.2444-2455

2014

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Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

Lancet neurology, 2016-12, Vol.15 (13), p.1346-1354

2016

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Auditory Phenotypic Variability in Friedreich’s Ataxia Patients

Cerebellum (London, England), 2021-08, Vol.20 (4), p.497-508

2021

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Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study

The Lancet (British edition), 2014-08, Vol.384 (9942), p.504-513

2014

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Correction to: DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder

Journal of neurology, 2021-08, Vol.268 (8), p.3042-3042

2021

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Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations

Neurogenetics, 2022-04, Vol.23 (2), p.91-102

2022

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Plasma Markers of Neurodegeneration Are Raised in Friedreich's Ataxia

Frontiers in cellular neuroscience, 2018-10, Vol.12, p.366-366

2018

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Diagnosis and treatment of Friedreich ataxia: a European perspective

Nature reviews. Neurology, 2009-04, Vol.5 (4), p.222-234

2009

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Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

Frontiers in neurology, 2021-12, Vol.12, p.736253-736253

2021

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Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia

Orphanet journal of rare diseases, 2017-09, Vol.12 (1), p.158-158, Article 158

2017

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PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

Frontiers in cellular neuroscience, 2018-07, Vol.12, p.200-200

2018

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A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

Cerebellum (London, England), 2014-10, Vol.13 (5), p.588-595

2014

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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Frontiers in cellular neuroscience, 2018-11, Vol.12, p.429-429

2018

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An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

Movement disorders, 2010-10, Vol.25 (13), p.2176-2182

2010

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Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients

Movement disorders, 2006-05, Vol.21 (5), p.699-704

2006

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Analysis of Friedreich's ataxia patient clinical data reveals importance of accurate GAA repeat determination in disease prognosis and gender differences in cardiac measures

Informatics in medicine unlocked, 2019, Vol.17, p.100266, Article 100266

2019

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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

Nature genetics, 1997-09, Vol.17 (1), p.65-70

1997

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Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study

Cerebellum (London, England), 2010-06, Vol.9 (2), p.232-239

2010

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Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

Movement disorders, 2010-04, Vol.25 (6), p.771-773

2010

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Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Lancet neurology, 2015-11, Vol.14 (11), p.1101-1108

2015

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Molecular pathogenesis of spinocerebellar ataxias

Brain (London, England : 1878), 2006-06, Vol.129 (6), p.1357-1370

2006

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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

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

Auditory Phenotypic Variability in Friedreich’s Ataxia Patients

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

Correction to: DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations

Plasma Markers of Neurodegeneration Are Raised in Friedreich's Ataxia

Diagnosis and treatment of Friedreich ataxia: a European perspective

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients

Analysis of Friedreich's ataxia patient clinical data reveals importance of accurate GAA repeat determination in disease prognosis and gender differences in cardiac measures

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Molecular pathogenesis of spinocerebellar ataxias

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