|Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency|
A Brooks-Wilson, M Marcil, SM Clee, LH Zhang, K Roomp, M van Dam, ...
Nature genetics 22 (4), 336, 1999
|Unified Huntington’s disease rating scale: reliability and consistency|
K Kieburtz, JB Penney, P Corno, N Ranen, I Shoulson, A Feigin, ...
Neurology 11 (2), 136-142, 2001
|Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease|
C Zuccato, A Ciammola, D Rigamonti, BR Leavitt, D Goffredo, L Conti, ...
Science 293 (5529), 493-498, 2001
|The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease|
SE Andrew, YP Goldberg, B Kremer, H Telenius, J Theilmann, S Adam, ...
Nature genetics 4 (4), 398, 1993
|Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis|
G Papanikolaou, ME Samuels, EH Ludwig, MLE MacDonald, ...
Nature genetics 36 (1), 77, 2004
|Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines|
AV Panov, CA Gutekunst, BR Leavitt, MR Hayden, JR Burke, ...
Nature neuroscience 5 (8), 731, 2002
|Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes|
C Zuccato, M Tartari, A Crotti, D Goffredo, M Valenza, L Conti, ...
Nature genetics 35 (1), 76, 2003
|A YAC mouse model for Huntington’s disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration|
JG Hodgson, N Agopyan, CA Gutekunst, BR Leavitt, F LePiane, ...
Neuron 23 (1), 181-192, 1999
|Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes|
J Nasir, SB Floresco, JR O'Kusky, VM Diewert, JM Richman, J Zeisler, ...
Cell 81 (5), 811-823, 1995
|A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2|
S Hadano, CK Hand, H Osuga, Y Yanagisawa, A Otomo, RS Devon, ...
Nature genetics 29 (2), 166, 2001
|Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease|
EJ Slow, J Van Raamsdonk, D Rogers, SH Coleman, RK Graham, ...
Human molecular genetics 12 (13), 1555-1567, 2003
|Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract|
YP Goldberg, DW Nicholson, DM Rasper, MA Kalchman, HB Koide, ...
Nature genetics 13 (4), 442, 1996
|Detection of Huntington’s disease decades before diagnosis: the Predict-HD study|
JS Paulsen, DR Langbehn, JC Stout, E Aylward, CA Ross, M Nance, ...
Journal of Neurology, Neurosurgery & Psychiatry 79 (8), 874-880, 2008
|Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin|
RK Graham, Y Deng, EJ Slow, B Haigh, N Bissada, G Lu, J Pearson, ...
Cell 125 (6), 1179-1191, 2006
|Increased sensitivity to N-methyl-D-aspartate receptor-mediated excitotoxicity in a mouse model of Huntington's disease|
MM Zeron, O Hansson, N Chen, CL Wellington, BR Leavitt, P Brundin, ...
Neuron 33 (6), 849-860, 2002
|A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats|
B Kremer, P Goldberg, SE Andrew, J Theilmann, H Telenius, J Zeisler, ...
New England Journal of Medicine 330 (20), 1401-1406, 1994
|A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length|
DR Langbehn, RR Brinkman, D Falush, JS Paulsen, MR Hayden, ...
Clinical genetics 65 (4), 267-277, 2004
|Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract|
CL Wellington, LM Ellerby, AS Hackam, RL Margolis, MA Trifiro, ...
Journal of Biological Chemistry 273 (15), 9158-9167, 1998
Springer Science & Business Media, 2012
|Phenotypic characterization of individuals with 30–40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals …|
DC Rubinsztein, J Leggo, R Coles, E Almqvist, V Biancalana, ...
American journal of human genetics 59 (1), 16, 1996