| DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases C Bettencourt, D Hensman‐Moss, M Flower, S Wiethoff, A Brice, C Goizet, ... Annals of neurology 79 (6), 983-990, 2016 | 235 | 2016 |
| Machado-Joseph Disease: from first descriptions to new perspectives C Bettencourt, M Lima Orphanet journal of rare diseases 6 (1), 1-12, 2011 | 234 | 2011 |
| Genetic and phenotypic characterization of complex hereditary spastic paraplegia E Kara, A Tucci, C Manzoni, DS Lynch, M Elpidorou, C Bettencourt, ... Brain 139 (7), 1904-1918, 2016 | 218 | 2016 |
| Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation S Dusi, L Valletta, TB Haack, Y Tsuchiya, P Venco, S Pasqualato, ... The American Journal of Human Genetics 94 (1), 11-22, 2014 | 206 | 2014 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 192 | 2019 |
| A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia NE Mencacci, I Rubio-Agusti, A Zdebik, F Asmus, MHR Ludtmann, ... The American Journal of Human Genetics 96 (6), 938-947, 2015 | 137 | 2015 |
| Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal) C Santos, R Montiel, B Sierra, C Bettencourt, E Fernandez, L Alvarez, ... Molecular biology and evolution 22 (6), 1490-1505, 2005 | 127 | 2005 |
| Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2 E Cottenie, A Kochanski, A Jordanova, B Bansagi, M Zimon, A Horga, ... The American Journal of Human Genetics 95 (5), 590-601, 2014 | 118 | 2014 |
| Dominant mutations in GRM1 cause spinocerebellar ataxia type 44 LM Watson, E Bamber, RP Schnekenberg, J Williams, C Bettencourt, ... The American Journal of Human Genetics 101 (3), 451-458, 2017 | 92 | 2017 |
| Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease N Kazachkova, M Raposo, R Montiel, T Cymbron, C Bettencourt, ... Neurodegenerative diseases 11 (4), 206-214, 2013 | 78 | 2013 |
| Increased transcript diversity: novel splicing variants of Machado–Joseph disease gene (ATXN3) C Bettencourt, C Santos, R Montiel, M do Carmo Costa, P Cruz-Morales, ... Neurogenetics 11 (2), 193-202, 2010 | 75 | 2010 |
| Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia C Bettencourt, M Ryten, P Forabosco, S Schorge, J Hersheson, J Hardy, ... JAMA neurology 71 (7), 831-839, 2014 | 69 | 2014 |
| Coenzyme Q10 levels are decreased in the cerebellum of multiple-system atrophy patients LV Schottlaender, C Bettencourt, AP Kiely, A Chalasani, V Neergheen, ... PloS one 11 (2), e0149557, 2016 | 63 | 2016 |
| Analysis of segregation patterns in Machado–Joseph disease pedigrees C Bettencourt, C Santos, T Kay, J Vasconcelos, M Lima Journal of human genetics 53 (10), 920-923, 2008 | 62 | 2008 |
| A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea V Salpietro, B Perez‐Dueñas, K Nakashima, V San Antonio‐Arce, ... Movement Disorders 33 (3), 482-488, 2018 | 60 | 2018 |
| The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease C Bettencourt, M Raposo, N Kazachkova, T Cymbron, C Santos, T Kay, ... Archives of neurology 68 (12), 1580-1583, 2011 | 60 | 2011 |
| Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal M Lima, MC Costa, R Montiel, A Ferro, C Santos, C Silva, C Bettencourt, ... Human heredity 60 (3), 156-163, 2005 | 56 | 2005 |
| Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis Q Gang, C Bettencourt, PM Machado, S Brady, JL Holton, AM Pittman, ... Neurobiology of aging 47, 218. e1-218. e9, 2016 | 55 | 2016 |
| Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features M Heidari, DM Johnstone, B Bassett, RM Graham, ACG Chua, MJ House, ... Molecular psychiatry 21 (11), 1599-1607, 2016 | 53 | 2016 |
| Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination S Efthymiou, V Salpietro, N Malintan, M Poncelet, Y Kriouile, S Fortuna, ... Brain 142 (10), 2948-2964, 2019 | 51 | 2019 |
