Literature DB >> 23946314

De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype.

Gunnar Houge1, Ove Bruland, Inga Bjørnevoll, Michael R Hayden, Alicia Semaka.   

Abstract

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Mesh：

Year:  2013        PMID： 23946314      PMCID： PMC3795589          DOI： 10.1212/WNL.0b013e3182a4a4af

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  5 in total

1.  Expansion of a 27 CAG repeat allele into a symptomatic huntington disease-producing allele.

Authors:  T E Kelly; P Allinson; R C McGlennen; J Baker; Y Bao
Journal:  Am J Med Genet       Date:  1999-11-05

2.  New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles.

Authors:  A Maat-Kievit; M Losekoot; H Van Den Boer-Van Den Berg; G J Van Ommen; M Niermeijer; M Breuning; A Tibben
Journal:  J Med Genet       Date:  2001-04       Impact factor: 6.318

3.  HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia.

Authors:  Simon C Warby; Henk Visscher; Jennifer A Collins; Crystal N Doty; Catherine Carter; Stefanie L Butland; Anna R Hayden; Ichiro Kanazawa; Colin J Ross; Michael R Hayden
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

4.  Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles).

Authors:  A Semaka; J A Collins; M R Hayden
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2010-01-05       Impact factor: 3.568

5.  CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.

Authors:  Simon C Warby; Alexandre Montpetit; Anna R Hayden; Jeffrey B Carroll; Stefanie L Butland; Henk Visscher; Jennifer A Collins; Alicia Semaka; Thomas J Hudson; Michael R Hayden
Journal:  Am J Hum Genet       Date:  2009-02-26       Impact factor: 11.025
  5 in total
  5 in total

1.  Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease.

Authors:  Martilias Farrell; Maya Lichtenstein; James J Crowley; Dawn M Filmyer; Gabriel Lázaro-Muñoz; Rita A Shaughnessy; Ian R Mackenzie; Veronica Hirsch-Reinshagen; Robert Stowe; James P Evans; Jonathan S Berg; Jin Szatkiewicz; Richard C Josiassen; Patrick F Sullivan
Journal:  Am J Psychiatry       Date:  2018-05-01       Impact factor: 18.112

2.  Current Status of Huntington's Disease in Korea: A Nationwide Survey and National Registry Analysis.

Authors:  Hyun Sook Kim; Chul Hyoung Lyoo; Phil Hyu Lee; Sang Jin Kim; Mee Young Park; Hyeo-Il Ma; Jae Hyeok Lee; Sook Kun Song; Jong Sam Baik; Jin Ho Kim; Myung Sik Lee
Journal:  J Mov Disord       Date:  2015-01-13

3.  Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.

Authors:  Paula Sienes Bailo; Raquel Lahoz; Juan Pelegrín Sánchez Marín; Silvia Izquierdo Álvarez
Journal:  BMC Med Genet       Date:  2020-11-23       Impact factor: 2.103

4.  A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry.

Authors:  Jessica Dawson; Fiona K Baine-Savanhu; Marc Ciosi; Alastair Maxwell; Darren G Monckton; Amanda Krause
Journal:  HGG Adv       Date:  2022-07-11

5.  Interpreting short tandem repeat variations in humans using mutational constraint.

Authors:  Melissa Gymrek; Thomas Willems; David Reich; Yaniv Erlich
Journal:  Nat Genet       Date:  2017-09-11       Impact factor: 38.330
  5 in total

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