References
- 1PerlmanSLBoderESedgewickRPGattiRAAtaxia-telangiectasiaHandb Clin Neurol201210330733210.1016/B978-0-444-51892-7.00019-X21827897
- 2MeneretAAhmar-BeaugendreYRieunierGet alThe pleiotropic movement disorders phenotype of adult ataxia-telangiectasiaNeurology2014831087109510.1212/WNL.000000000000079425122203
- 3TelatarMWangSCastellvi-BelSet alA model for ATM heterozygote identification in a large population: Four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasiaMol Genet Metab199864364310.1006/mgme.1998.26939682216
- 4MiyamotoRMorinoHYoshizawaAet alExome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxiaJ Neurol Sci201433721922310.1016/j.jns.2013.11.03224332946
- 5FernetMGribaaMSalihMASeidahmedMZHallJKoenigMIdentification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorderHum Mol Genet20051430731810.1093/hmg/ddi02715574463
- 6CumminsGJawadTTaylorMLynchTMyoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasiaParkinsonism Relat Disord2013191173117410.1016/j.parkreldis.2013.08.01324120321
- 7NakayamaTSatoYUematsuMet alMyoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasiaBrain Dev2014
- 8VerhagenMMMartinJJvan DeurenMet alNeuropathology in classical and variant ataxia-telangiectasiaNeuropathology20123223424410.1111/j.1440-1789.2011.01263.x22017321
- 9BhatiaKPBrownPGregoryRet alProgressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellumBrain1995118(Pt 5)1087109310.1093/brain/118.5.10877496772
- 10TijssenMAThomMEllisonDWet alCortical myoclonus and cerebellar pathologyNeurology2000541350135610.1212/WNL.54.6.135010746609
- 11StrianoPCaranciFDi BenedettoRTortoraFZaraFStrianoS(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsyEpilepsia2009501491149710.1111/j.1528-1167.2008.01900.x19054410
- 12BuijinkAWCaanMWTijssenMAHoogduinJMMauritsNMvan RootselaarAFDecreased cerebellar fiber density in cortical myoclonic tremor but not in essential tremorCerebellum20131219920410.1007/s12311-012-0414-222961557
- 13GattiRAtaxia-telangiectasiaPagonRAdamMArdingerHet aleditors. GeneReviews®Seattle, WAUniversity of Washington1999(updated 2010 Mar 11), doi: http://www.ncbi.nlm.nih.gov/books/NBK26468/
- 14Saunders-PullmanRRaymondDStoesslAJet alVariant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian MennonitesNeurology20127864965710.1212/WNL.0b013e3182494d5122345219
- 15ShaikhAGZeeDSMandirASLedermanHMCrawfordTODisorders of Upper Limb Movements in Ataxia-TelangiectasiaPLoS One20138e6704210.1371/journal.pone.006704223826191