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References from Neurological disease progression in adults with ataxia-telangiectasia: a longitudinal study. Local targets link to admitted publications; unresolved targets remain external evidence.
Ataxia telangiectasia: A review
10.1186/s13023-016-0543-7 · 2016 · External reference
Chromosome instability syndromes
10.1038/s41572-019-0113-0 · 2019 · External reference
Ataxia telangiectasia: What the neurologist needs to know
10.1136/practneurol-2019-002253 · 2020 · External reference
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia
10.1002/ana.25394 · 2019 · External reference
Ataxia-telangiectasia: Recommendations for multidisciplinary treatment
10.1111/dmcn.13424 · 2017 · External reference
A framework for individualized splice-switching oligonucleotide therapy
10.1038/s41586-023-06277-0 · 2023 · External reference
Modelling ATM mutant proteins from missense changes confirms retained kinase activity
10.1002/humu.21034 · 2009 · External reference
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap
10.1038/s41573-024-01059-3 · 2025 · External reference
The burden of rare diseases
10.1002/ajmg.a.61124 · 2019 · External reference
The natural history of ataxia-telangiectasia (A-T): A systematic review
10.1371/journal.pone.0264177 · 2022 · External reference
Scale for the assessment and rating of ataxia: Development of a new clinical scale
10.1212/01.wnl.0000219042.60538.92 · 2006 · External reference
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours
10.1038/bjc.2011.266 · 2011 · External reference
Biomarker changes during 20 years preceding Alzheimer’s disease
10.1056/nejmoa2310168 · 2024 · External reference
10.1007/978-1-4419-0318-1
10.1007/978-1-4419-0318-1 · 2000 · External reference
Estimation of extended mixed models using latent classes and latent processes: The R package lcmm
10.18637/jss.v078.i02 · 2017 · External reference
An analysis of transformations
10.1111/j.2517-6161.1964.tb00553.x · 1964 · External reference
Unresolved reference
2008 · External reference
Serum alpha fetoprotein in Ataxia Telangiectasia: New lessons about an old biomarker
10.1016/j.ejpn.2026.02.006 · 2026 · External reference
Biomarkers in Ataxia-Telangiectasia: A systematic review
10.1007/s00415-024-12766-7 · 2025 · External reference
SARA captures disparate progression and responsiveness in spinocerebellar ataxias
10.1007/s00415-024-12475-1 · 2024 · External reference
Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia
10.1007/s00415-026-13812-2 · 2026 · External reference
More than ataxia – movement disorders in ataxia-telangiectasia
10.1016/j.parkreldis.2017.12.009 · 2018 · External reference
Peripheral polyneuropathy in children and young adults with ataxia-telangiectasia
10.1111/ene.16028 · 2023 · External reference
Assessment of ataxia rating scales and cerebellar functional tests: Critique and recommendations
10.1002/mds.28313 · 2021 · External reference
Responsiveness of the scale for the assessment and rating of ataxia and natural history in 884 recessive and early onset ataxia patients
10.1002/ana.26712 · 2023 · External reference
Consensus recommendations for clinical outcome assessments and registry development in ataxias: Ataxia global initiative (AGI) working group expert guidance
10.1007/s12311-023-01547-z · 2024 · External reference
Exploring the clinical meaningfulness of the scale for the assessment and rating of ataxia: A comparison of patient and physician perspectives at the item level
10.1016/j.parkreldis.2021.08.014 · 2021 · External reference
Temporal dynamics of the scale for the assessment and rating of ataxia in spinocerebellar ataxias
10.1002/mds.29255 · 2023 · External reference