| 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), 336-345, 1999 | 2147 | 1999 |
| Unified Huntington's disease rating scale: reliability and consistency K Kieburtz, JB Penney, P Como, N Ranen, I Shoulson, A Feigin, ... Movement disorders 11 (2), 136-142, 1996 | 2073 | 1996 |
| Huntington disease GP Bates, R Dorsey, JF Gusella, MR Hayden, C Kay, BR Leavitt, M Nance, ... Nature reviews Disease primers 1 (1), 1-21, 2015 | 1716 | 2015 |
| 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 | 1642 | 2001 |
| The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease SE Andrew, Y Paul Goldberg, B Kremer, H Telenius, J Theilmann, ... Nature genetics 4 (4), 398-403, 1993 | 1521 | 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), 77-82, 2004 | 1278 | 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), 731-736, 2002 | 1276 | 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), 76-83, 2003 | 1184 | 2003 |
| 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 | 1117 | 1995 |
| 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, DJ Smith, ... Neuron 23 (1), 181-192, 1999 | 1053 | 1999 |
| Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease EJ Slow, J van Raamsdonk, D Rogers, SH Coleman, RK Graham, Y Deng, ... Human molecular genetics 12 (13), 1555-1567, 2003 | 968 | 2003 |
| 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 | 964 | 2008 |
| 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 | 933 | 2004 |
| 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), 166-173, 2001 | 875 | 2001 |
| 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), 442-449, 1996 | 844 | 1996 |
| 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 | 823 | 2006 |
| 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 | 823 | 1994 |
| A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease M Björkqvist, EJ Wild, J Thiele, A Silvestroni, R Andre, N Lahiri, ... The Journal of experimental medicine 205 (8), 1869-1877, 2008 | 764 | 2008 |
| 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 | 749 | 2002 |
| 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 | 738 | 1998 |
