References

Clinical and genetic characterization of Brazilian patients with ataxia and oculomotor apraxia

10.1002/mds.29015 · 2022 · External reference

Autosomal recessive cerebellar ataxias with elevated alpha‐fetoprotein: uncommon diseases, common biomarker

10.1002/mds.28307 · 2020 · External reference

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

10.1093/brain/awp211 · 2009 · External reference

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

10.1038/nature20790 · 2017 · External reference

The autosomal recessive cerebellar ataxias

10.1056/nejmra1006610 · 2012 · External reference

Clinical, biomarker, and molecular delineations and genotype‐phenotype correlations of ataxia with oculomotor apraxia type 1

10.1001/jamaneurol.2017.4373 · 2018 · External reference

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia

10.1002/humu.21650 · 2012 · External reference

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video‐oculography and alpha‐fetoprotein

10.1038/s41598-017-15127-9 · 2017 · External reference

Ocular motor abnormalities in ataxia telangiectasia

10.1002/1531-8249(199909)46:3<287::aid-ana3>3.0.co;2-0 · 1999 · External reference

Saccades and eye‐head coordination in ataxia with oculomotor apraxia type 2

10.1007/s12311-013-0463-1 · 2013 · External reference

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

10.1016/s1474-4422(07)70054-6 · 2007 · External reference

Ataxia‐telangiectasia: a review of movement disorders, clinical features, and genotype correlations

10.1002/mds.27319 · 2018 · External reference

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4

10.1016/j.ajhg.2015.01.005 · 2015 · External reference

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

10.1093/brain/awg283 · 2003 · External reference

Cervical dystonia and No oculomotor apraxia as new manifestation of ataxia‐telangiectasia‐like disorder 1—case report and review of the literature

10.3389/fneur.2023.1243535 · 2023 · External reference

A thermosensitive PCNA allele underlies an ataxia‐telangiectasia‐like disorder

10.1016/j.jbc.2023.104656 · 2023 · External reference

Unravelling the global tapestry of genetic ataxias: epidemiology and genetic testing approaches

10.1002/mds.30302 · 2025 · External reference

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

10.1136/jnnp-2017-317581 · 2018 · External reference

Beyond typical ataxia telangiectasia: how to identify the ataxia telangiectasia‐like disorders

10.1002/mdc3.13110 · 2021 · External reference

Defective DNA repair and neurodegenerative disease

10.1016/j.cell.2007.08.043 · 2007 · External reference

Nonsyndromic cerebellar ataxias associated with disorders of DNA single‐strand break repair

10.1016/b978-0-444-64189-2.00007-x · 2018 · External reference

A type of congenital ocular motor apraxia presenting jerky head movements

10.1016/0002-9394(53)90553-4 · 1953 · External reference

10.1093/med/9780199969289.001.0001

10.1093/med/9780199969289.001.0001 · 2015 · External reference

Eye Movement Disorders in Movement Disorders

10.1002/mdc3.13413 · 2022 · External reference

Infantile‐onset saccade initiation delay (congenital ocular motor apraxia)

10.1007/s11910-015-0543-3 · 2015 · External reference

Approach to oculomotor apraxia: a syndromic approach to genetic causes

10.1007/s12311-025-01869-0 · 2025 · External reference

Effects of acetyl‐DL‐leucine on ataxia and downbeat‐nystagmus in six patients with ataxia telangiectasia

10.1177/08830738211028394 · 2022 · External reference

Gaze fixation deficits and their implication in ataxia‐telangiectasia

10.1136/jnnp.2008.170522 · 2009 · External reference

Past and present of eye movement abnormalities in ataxia‐telangiectasia

10.1007/s12311-018-0990-x · 2019 · External reference

Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases

10.1002/mds.870040405 · 1989 · External reference

Characteristic eye movements in ataxia‐telangiectasia‐like disorder: an explanatory hypothesis

10.3389/fneur.2017.00596 · 2017 · External reference

Ataxia with oculomotor apraxia type 2: two pedigree studies and a comprehensive review

10.1007/s00415-025-13277-9 · 2025 · External reference

Ocular manifestations of ataxia‐telangiectasia

10.1016/s0002-9394(02)01796-8 · 2002 · External reference

Hypergonadotropic hypogonadism and Hypersegmented neutrophils in a patient with ataxia‐telangiectasia‐like disorder: potential diagnostic clues?

10.1002/ajmg.a.36546 · 2014 · External reference