Search details
1.
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Hum Mol Genet
; 30(3-4): 135-148, 2021 04 26.
Article
in English
| MEDLINE | ID: mdl-33432339
2.
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Am J Hum Genet
; 107(1): 96-110, 2020 07 02.
Article
in English
| MEDLINE | ID: mdl-32589923
3.
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
Hum Mol Genet
; 29(18): 3044-3053, 2020 11 04.
Article
in English
| MEDLINE | ID: mdl-32876667
4.
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.
Hum Mol Genet
; 29(15): 2551-2567, 2020 08 29.
Article
in English
| MEDLINE | ID: mdl-32761094
5.
Chromosome substitution strain assessment of a Huntington's disease modifier locus.
Mamm Genome
; 26(3-4): 119-30, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25645993
6.
Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.
Bipolar Disord
; 17(4): 403-8, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25726852
7.
Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.
Am J Med Genet B Neuropsychiatr Genet
; 168B(2): 135-43, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25656686
8.
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Neurogenetics
; 14(3-4): 173-9, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23644918
9.
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.
Hum Genet
; 131(12): 1833-40, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-22825315
10.
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
Biochem Biophys Res Commun
; 424(3): 404-8, 2012 Aug 03.
Article
in English
| MEDLINE | ID: mdl-22771793
11.
Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.
Amyotroph Lateral Scler
; 13(3): 265-9, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22409360
12.
Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice.
Hum Mol Genet
; 11(19): 2233-41, 2002 Sep 15.
Article
in English
| MEDLINE | ID: mdl-12217951
13.
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.
Am J Hum Genet
; 73(3): 682-7, 2003 Sep.
Article
in English
| MEDLINE | ID: mdl-12900792
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