| Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms S Salinas, C Proukakis, A Crosby, TT Warner The Lancet Neurology 7 (12), 1127-1138, 2008 | 642 | 2008 |
| A novel α-synuclein missense mutation in Parkinson disease C Proukakis, CG Dudzik, T Brier, DS MacKay, JM Cooper, GL Millhauser, ... Neurology 80 (11), 1062-1064, 2013 | 591 | 2013 |
| α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy? AP Kiely, YT Asi, E Kara, P Limousin, H Ling, P Lewis, C Proukakis, ... Acta neuropathologica 125, 753-769, 2013 | 533 | 2013 |
| Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome C Windpassinger, M Auer-Grumbach, J Irobi, H Patel, E Petek, G Hörl, ... Nature genetics 36 (3), 271-276, 2004 | 469 | 2004 |
| Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase MA Simpson, H Cross, C Proukakis, DA Priestman, DCA Neville, ... Nature genetics 36 (11), 1225-1229, 2004 | 468 | 2004 |
| SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia H Patel, H Cross, C Proukakis, R Hershberger, P Bork, FD Ciccarelli, ... Nature genetics 31 (4), 347-348, 2002 | 327 | 2002 |
| Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation–positive cohort M Beavan, A McNeill, C Proukakis, DA Hughes, A Mehta, AHV Schapira JAMA neurology 72 (2), 201-208, 2015 | 241 | 2015 |
| 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 | 227 | 2016 |
| Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35) KJ Dick, M Eckhardt, C Paisán‐Ruiz, AA Alshehhi, C Proukakis, ... Human mutation 31 (4), E1251-E1260, 2010 | 227 | 2010 |
| Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia MA Simpson, H Cross, C Proukakis, A Pryde, R Hershberger, ... The American Journal of Human Genetics 73 (5), 1147-1156, 2003 | 218 | 2003 |
| The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia FD Ciccarelli, C Proukakis, H Patel, H Cross, S Azam, MA Patton, P Bork, ... Genomics 81 (4), 437-441, 2003 | 179 | 2003 |
| Is the transportation highway the right road for hereditary spastic paraplegia? AH Crosby, C Proukakis The American Journal of Human Genetics 71 (5), 1009-1016, 2002 | 157 | 2002 |
| Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis GV Harlalka, A Lehman, B Chioza, EL Baple, R Maroofian, H Cross, ... Brain 136 (12), 3618-3624, 2013 | 145 | 2013 |
| Hyposmia and cognitive impairment in Gaucher disease patients and carriers A McNeill, R Duran, C Proukakis, J Bras, D Hughes, A Mehta, J Hardy, ... Movement Disorders 27 (4), 526-532, 2012 | 143 | 2012 |
| Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation AP Kiely, H Ling, YT Asi, E Kara, C Proukakis, AH Schapira, HR Morris, ... Molecular neurodegeneration 10, 1-17, 2015 | 126 | 2015 |
| Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy YT Liu, M Laurá, J Hersheson, A Horga, Z Jaunmuktane, S Brandner, ... Neurology 83 (7), 612-619, 2014 | 111 | 2014 |
| Spastin and microtubules: Functions in health and disease S Salinas, RE Carazo‐Salas, C Proukakis, G Schiavo, TT Warner Journal of neuroscience research 85 (12), 2778-2782, 2007 | 111 | 2007 |
| Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease N Zokaei, A McNeill, C Proukakis, M Beavan, P Jarman, P Korlipara, ... Brain 137 (8), 2303-2311, 2014 | 100 | 2014 |
| Defective mitochondrial mRNA maturation is associated with spastic ataxia AH Crosby, H Patel, BA Chioza, C Proukakis, K Gurtz, MA Patton, ... The American Journal of Human Genetics 87 (5), 655-660, 2010 | 100 | 2010 |
| Detection of mosaic and population-level structural variants with Sniffles2 M Smolka, LF Paulin, CM Grochowski, DW Horner, M Mahmoud, ... Nature biotechnology, 1-10, 2024 | 92 | 2024 |
