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Page 1
Trinucleotide repeat disorders.
Den Dunnen WFA. Den Dunnen WFA. Handb Clin Neurol. 2017;145:383-391. doi: 10.1016/B978-0-12-802395-2.00027-4. Handb Clin Neurol. 2017. PMID: 28987184 Review.
Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), these CAG-repeat diseases, as well as Huntington disease-like 2 (HDL2) and SCA8, can be neuropathologically identified using 1C2 polyglutamine antibodies. ...
Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), these CAG-repeat diseases, as well as Huntington disease- …
Huntington's disease-like disorders in Latin America and the Caribbean.
Walker RH, Gatto EM, Bustamante ML, Bernal-Pacheco O, Cardoso F, Castilhos RM, Chana-Cuevas P, Cornejo-Olivas M, Estrada-Bellmann I, Jardim LB, López-Castellanos R, López-Contreras R, Maia DP, Mazzetti P, Miranda M, Rodríguez-Violante M, Teive H, Tumas V. Walker RH, et al. Parkinsonism Relat Disord. 2018 Aug;53:10-20. doi: 10.1016/j.parkreldis.2018.05.021. Epub 2018 May 21. Parkinsonism Relat Disord. 2018. PMID: 29853295 Review.
Huntington disease and Huntington disease-like in a case series from Brazil.
Castilhos RM, Souza AF, Furtado GV, Gheno TC, Silva AL, Vargas FR, Lima MA, Barsottini O, Pedroso JL, Godeiro C Jr, Salarini D, Pereira ET, Lin K, Toralles MB, Saute JA, Rieder CR, Quintas M, Sequeiros J, Alonso I, Saraiva-Pereira ML, Jardim LB. Castilhos RM, et al. Clin Genet. 2014 Oct;86(4):373-7. doi: 10.1111/cge.12283. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24102565
Neurologic phenotypes associated with acanthocytosis.
Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A. Walker RH, et al. Neurology. 2007 Jan 9;68(2):92-8. doi: 10.1212/01.wnl.0000250356.78092.cc. Neurology. 2007. PMID: 17210889 Review.
The term "neuroacanthocytosis" is normally used to refer to autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome, but there are other movement disorders in which erythrocyte acanthocytosis may also be seen, such as Huntington disease-like
The term "neuroacanthocytosis" is normally used to refer to autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome, but ther …
A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci.
Baine FK, Peerbhai N, Krause A. Baine FK, et al. J Neurol Sci. 2018 Jul 15;390:200-204. doi: 10.1016/j.jns.2018.04.031. Epub 2018 Apr 21. J Neurol Sci. 2018. PMID: 29801887
South Africa has the highest number of recorded cases of an African-specific phenocopy, Huntington disease-like 2 (HDL2), caused by a repeat expansion in the junctophilin-3 gene. ...
South Africa has the highest number of recorded cases of an African-specific phenocopy, Huntington disease-like 2
A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.
Bardien S, Abrahams F, Soodyall H, van der Merwe L, Greenberg J, Brink T, Carr J. Bardien S, et al. Mov Disord. 2007 Oct 31;22(14):2083-9. doi: 10.1002/mds.21672. Mov Disord. 2007. PMID: 17708569
Huntington disease-like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin-3 gene (JPH3). ...
Huntington disease-like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the j
Huntington disease-like 2: the first patient with apparent European ancestry.
Santos C, Wanderley H, Vedolin L, Pena SD, Jardim L, Sequeiros J. Santos C, et al. Clin Genet. 2008 May;73(5):480-5. doi: 10.1111/j.1399-0004.2008.00981.x. Epub 2008 Mar 12. Clin Genet. 2008. PMID: 18341606
Huntington disease-like 2 (HDL2) is a rare autosomal dominant disorder of the nervous system, apparently indistinguishable from Huntington disease (HD). ...
Huntington disease-like 2 (HDL2) is a rare autosomal dominant disorder of the nervous system, apparently indisti
12 results