|Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms|
S Salinas, C Proukakis, A Crosby, TT Warner
The Lancet Neurology 7 (12), 1127-1138, 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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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), 1-17, 2015
|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
|Human spastin has multiple microtubule‐related functions|
S Salinas, RE Carazo‐Salas, C Proukakis, JM Cooper, AE Weston, ...
Journal of neurochemistry 95 (5), 1411-1420, 2005