References
- HolmesSEO’HearnERosenblattACallahanCHwangHSIngersoll-AshworthRGA repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2Nat Genet200129377378doi: 10.1038/ng76011694876
- MargolisRLO’HearnERosenblattAWillourVHolmesSEFranzMLA disorder similar to Huntington’s disease is associated with a novel CAG repeat expansionAnn Neurol200150373380doi: 10.1002/ana.1312
- AndersonDGWalkerRHConnorMCarrJMargolisRLKrauseAA systematic review of the Huntington disease-like 2 phenotypeJ Huntington’s Dis201763746doi: 10.3233/JHD-16023228339400
- WalkerRHMorgelloSDavidoff-FeldmanBMelnickAWalshMJShashidharanPAutosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusionsNeurology20025810311037doi: 10.1212/WNL.58.7.103111940688
- WalkerRHRasmussenARudnickiDHolmesSEAlonsoEMatsuuraTHuntington’s disease-like 2 can present as chorea-acanthocytosisNeurology20036110021004doi: 10.1212/01.WNL.0000085866.68470.6D14557581
- Adjobo-HermansMJWCluitmansJCABosmanGJCGMNeuroacanthocytosis: observations, theories and perspectives on the origin and significance of acanthocytesTremor Other Hyperkinet Mov20155328doi: 10.7916/D8VH5N2M
- SieglCHammingerPJankHAhtingUBaderBDanekAAlterations of red cell membrane properties in neuroacanthocytosisPLoS ONE20138e76715doi: 10.1371/journal.pone.007671524098554
- KrauseAMitchellCEssopFTagerSTemlettJStevaninGJunctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotypeAm J Med Genet B Neuropsychiatr Genet2015168573585doi: 10.1002/ajmg.b.3233226079385
- StorchAKornhassMSchwarzJTesting for acanthocytosisJ Neurol20052528490doi: 10.1007/s00415-005-0616-315654559
- CoetzerTLPalekJPartial spectrin deficiency in hereditary pyropoikilocytosisBlood1986679199243955236
- RudnickiDDHolmesSELinMWThorntonCARossCAMargolisRLHuntington’s disease-like 2 is associated with CUG repeat-containing RNA fociAnn Neurol200761272282doi: 10.1002/ana.2108117387722
- SeixasAIHolmesSETakeshimaHPavlovichASachsNPruittJLLoss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesisAnn Neurol201271245257doi: 10.1002/ana.2259822367996
- WilburnBRudnickiDDZhaoJWeitzTMChengYGuXAn antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington’s disease-like 2 miceNeuron201170427440doi: 10.1016/j.neuron.2011.03.02121555070