| Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism V Bonifati, P Rizzu, MJ Van Baren, O Schaap, GJ Breedveld, E Krieger, ... Science 299 (5604), 256-259, 2003 | 3491 | 2003 |
| 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 | 1483 | 1993 |
| 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 | 800 | 1994 |
| DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism V Bonifati, P Rizzu, F Squitieri, E Krieger, N Vanacore, JC Van Swieten, ... Neurological sciences 24, 159-160, 2003 | 563 | 2003 |
| Loss of normal huntingtin function: new developments in Huntington's disease research E Cattaneo, D Rigamonti, D Goffredo, C Zuccato, F Squitieri, S Sipione Trends in neurosciences 24 (3), 182-188, 2001 | 500 | 2001 |
| ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease A Di Fonzo, HF Chien, M Socal, S Giraudo, C Tassorelli, G Iliceto, ... Neurology 68 (19), 1557-1562, 2007 | 454 | 2007 |
| CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ... Neurology 78 (10), 690-695, 2012 | 433 | 2012 |
| Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations CL Liquori, MJ Berg, AM Siegel, E Huang, JS Zawistowski, D Verlaan, ... The American Journal of Human Genetics 73 (6), 1459-1464, 2003 | 374 | 2003 |
| Polyglutamine tracts regulate beclin 1-dependent autophagy A Ashkenazi, CF Bento, T Ricketts, M Vicinanza, F Siddiqi, M Pavel, ... Nature 545 (7652), 108-111, 2017 | 350 | 2017 |
| Brain white-matter volume loss and glucose hypometabolism precede the clinical symptoms of Huntington's disease A Ciarmiello, M Cannella, S Lastoria, M Simonelli, L Frati, DC Rubinsztein, ... Journal of Nuclear Medicine 47 (2), 215-222, 2006 | 335 | 2006 |
| Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects YP Goldberg, B Kremer, SE Andrew, J Theilmann, RK Graham, F Squitieri, ... Nature genetics 5 (2), 174-179, 1993 | 310 | 1993 |
| Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study DJH Moss, AF Pardiñas, D Langbehn, K Lo, BR Leavitt, R Roos, A Durr, ... The Lancet Neurology 16 (9), 701-711, 2017 | 309 | 2017 |
| Impaired PGC-1α function in muscle in Huntington's disease RK Chaturvedi, P Adhihetty, S Shukla, T Hennessy, N Calingasan, L Yang, ... Human molecular genetics 18 (16), 3048-3065, 2009 | 282 | 2009 |
| Observing Huntington's disease: the European Huntington's disease network's REGISTRY M Orth, European Huntington's Disease Network Journal of Neurology, Neurosurgery & Psychiatry 82 (12), 1409-1412, 2011 | 280 | 2011 |
| Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course F Squitieri, C Gellera, M Cannella, C Mariotti, G Cislaghi, DC Rubinsztein, ... Brain 126 (4), 946-955, 2003 | 278 | 2003 |
| DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor N Zhong, CY Kim, P Rizzu, C Geula, DR Porter, EN Pothos, F Squitieri, ... Journal of Biological Chemistry 281 (30), 20940-20948, 2006 | 235 | 2006 |
| DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence F Squitieri, SE Andrew, YP Goldberg, B Kremer, N Spence, J Zelsler, ... Human molecular genetics 3 (12), 2103-2114, 1994 | 235 | 1994 |
| Suicide risk in Huntington's disease. L Di Maio, F Squitieri, G Napolitano, G Campanella, JA Trofatter, ... Journal of medical genetics 30 (4), 293-295, 1993 | 217 | 1993 |
| Recommendations for the predictive genetic test in Huntington's disease R MacLeod, A Tibben, M Frontali, G Evers‐Kiebooms, A Jones, ... Clinical genetics 83 (3), 221-231, 2013 | 216 | 2013 |
| Low brain‐derived neurotrophic factor (BDNF) levels in serum of Huntington's disease patients A Ciammola, J Sassone, M Cannella, S Calza, B Poletti, L Frati, F Squitieri, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144 …, 2007 | 203 | 2007 |
