Ataxia UK

Homepage URL: ataxia.org.uk

Alternate name: Ataxia

Country: GB

ROR: 03192vt15

Crossref ID: 501100000346

DOI: 10.13039/501100000346

OpenAlex ID: F4320320050

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

2021 · The 100,000 Genomes Project Pilot Investigators · New England Journal of Medicine · 752

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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

2019 · Andrea Cortese, Roberto Simone, et al. · Nature Genetics · 601

Consensus Paper: Cerebellar Development

2015 · Ketty Leto, Marife Arancillo, et al. · The Cerebellum · 516

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LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model

2009 · Javier Alegre-Abarrategui, Helen Christian, et al. · Human Molecular Genetics · 448

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RNA/DNA Hybrid Interactome Identifies DXH9 as a Molecular Player in Transcriptional Termination and R-Loop-Associated DNA Damage

2018 · Agnese Cristini, Matthias Groh, et al. · Cell Reports · 431

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The epidemiology of mitochondrial disorders—past, present and future

2004 · Andrew M. Schaefer, Robert W. Taylor, et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 407

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R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

2014 · Matthias Groh, Michele M. P. Lufino, et al. · PLoS Genetics · 373

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Spinocerebellar ataxia: an update

2018 · Roisin Sullivan, Wai Yan Yau, et al. · Journal of Neurology · 370

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Human bone marrow-derived mesenchymal stem cells secrete brain-derived neurotrophic factor which promotes neuronal survival in vitro

2009 · Alastair Wilkins, Kevin Kemp, et al. · Stem Cell Research · 290

Stress granules, RNA-binding proteins and polyglutamine diseases: too much aggregation?

2021 · Adriana Marcelo, Rebekah Koppenol, et al. · Cell Death and Disease · 275

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The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

2007 · S. Al-Mahdawi, R. M. Pinto, et al. · Human Molecular Genetics · 267

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

2019 · Vincenzo Salpietro, Christine L. Dixon, et al. · Nature Communications · 258

Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders

2015 · Samuel Heyes, Wendy S. Pratt, et al. · Progress in Neurobiology · 242

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Friedreich’s ataxia: clinical features, pathogenesis and management

2017 · A Cook, P Giunti · British Medical Bulletin · 235

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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

2020 · Andrea Cortese, Stefano Tozza, et al. · Brain · 229

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Dietary treatment of gluten ataxia

2003 · M Hadjivassiliou, G A B Davies-Jones, et al. · Journal of Neurology Neurosurgery & Psychiatry · 224

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HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model

2008 · Myriam Rai, Elisabetta Soragni, et al. · PLoS ONE · 223

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Dissociation of duration-based and beat-based auditory timing in cerebellar degeneration

2010 · Manon Grube, Freya E. Cooper, et al. · Proceedings of the National Academy of Sciences · 222

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Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3

2008 · Xi Chen, Tie-Shan Tang, et al. · Journal of Neuroscience · 222

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Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

2010 · Coro Paisán-Ruiz, Abi Li, et al. · Neurobiology of Aging · 218

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

2015 · Kathrin Reetz, Imis Dogan, et al. · The Lancet Neurology · 214

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

2007 · Henry Houlden, Janel Johnson, et al. · Nature Genetics · 211

Out of Balance: R-loops in Human Disease

2014 · Matthias Groh, Natalia Gromak · PLoS Genetics · 207

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Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

2006 · P. F. Chinnery, D. E. Crompton, et al. · Brain · 203

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Video game–based coordinative training improves ataxia in children with degenerative ataxia

2012 · Winfried Ilg, Cornelia Schatton, et al. · Neurology · 193

Works count: 609

Citation count: 25,190

H-index: 80

I10-index: 403

2-year mean citedness: 6.23

Awards count: 19