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C. Proukakis · SciRah

Researcher profile · Semantic Scholar

C. Proukakis

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C. Proukakis — researcher profile on SciRah

h-index: 36
Works: 99
Citations: 6,193

Most-cited papers

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
S. Salinas, C. Proukakis, A. Crosby, T. Warner
2008Lancet Neurology543 citations
Semantic Scholar
Detection of mosaic and population-level structural variants with Sniffles2
Moritz Smolka, L. Paulin, C. Grochowski, D. Horner +10 more
2024Nature Biotechnology460 citations Open access
Semantic Scholar
A novel α-synuclein missense mutation in Parkinson disease
C. Proukakis, Christopher G. Dudzik, T. Brier, D. Mackay +4 more
2013Neurology416 citations Open access
Semantic Scholar
α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy?
A. Kiely, Yasmine T. Asi, E. Kara, P. Limousin +9 more
2013Acta Neuropathologica415 citations Open access
Semantic Scholar
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase
M. Simpson, H. Cross, C. Proukakis, D. Priestman +12 more
2004Nature Genetics386 citations
Semantic Scholar
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
C. Windpassinger, M. Auer-Grumbach, J. Irobi, H. Patel +16 more
2004Nature Genetics382 citations Open access
Semantic Scholar
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
H. Patel, H. Cross, C. Proukakis, R. Hershberger +5 more
2002Nature Genetics258 citations
Semantic Scholar
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
E. Kara, A. Tucci, C. Manzoni, David S. Lynch +25 more
2016Brain : a journal of neurology223 citations Open access
Semantic Scholar
Evolution of prodromal clinical markers of Parkinson disease in a glucocerebrosidase mutation positive cohort
Michelle S. Beavan, A. McNeill, C. Proukakis, D. Hughes +2 more
2015JAMA Neurology217 citations Open access
Semantic Scholar
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)
Katherine J. Dick, M. Eckhardt, C. Paisán-Ruiz, Aisha Alshehhi +11 more
2010Human Mutation196 citations
Semantic Scholar
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
M. Simpson, H. Cross, C. Proukakis, A. Pryde +4 more
2003American Journal of Human Genetics177 citations Open access
Semantic Scholar
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.
F. Ciccarelli, C. Proukakis, H. Patel, H. Cross +4 more
2003Genomics152 citations
Semantic Scholar
A Novel Alpha-Synuclein Missense Mutation in Parkinson's Disease
C. Proukakis, M. Katsianou, A. Hummel, T. Brier +3 more
2012145 citations
Semantic Scholar
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
G. Harlalka, A. Lehman, B. Chioza, E. Baple +19 more
2013Brain : a journal of neurology136 citations Open access
Semantic Scholar
Is the transportation highway the right road for hereditary spastic paraplegia?
A. Crosby, C. Proukakis
2002American Journal of Human Genetics131 citations Open access
Semantic Scholar
Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers
A. McNeill, R. Durán, C. Proukakis, J. Brás +5 more
2012Movement Disorders115 citations Open access
Semantic Scholar
Extended phenotypic spectrum of KIF5A mutations
Yo-Tsen Liu, M. Laurá, J. Hersheson, A. Horga +13 more
2014Neurology110 citations Open access
Semantic Scholar
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation
A. Kiely, H. Ling, Yasmine T. Asi, E. Kara +14 more
2015Molecular Neurodegeneration109 citations Open access
Semantic Scholar
Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease
N. Zokaei, A. McNeill, C. Proukakis, Michelle S. Beavan +7 more
2014Brain : a journal of neurology91 citations Open access
Semantic Scholar
Spastin and microtubules: Functions in health and disease
S. Salinas, Rafael E. Carazo-Salas, C. Proukakis, G. Schiavo +1 more
2007Journal of Neuroscience Research84 citations
Semantic Scholar
Comprehensive Structural Variant Detection: From Mosaic to Population-Level
Moritz Smolka, L. Paulin, C. Grochowski, D. Horner +10 more
2023bioRxiv81 citations Open access
Semantic Scholar
Selective vulnerability in α-synucleinopathies
J. Alegre-Abarrategui, Katherine R. Brimblecombe, Rosalind F. Roberts, E. Velentza-Almpani +3 more
2019Acta Neuropathologica78 citations Open access
Semantic Scholar
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION
M. Leija-Salazar, F. Sedlazeck, M. Toffoli, S. Mullin +7 more
2019Molecular Genetics & Genomic Medicine78 citations Open access
Semantic Scholar
Review: Somatic mutations in neurodegeneration
M. Leija-Salazar, C. Piette, C. Proukakis
2018Neuropathology and Applied Neurobiology72 citations Open access
Semantic Scholar
Human spastin has multiple microtubule‐related functions
S. Salinas, Rafael E. Carazo-Salas, C. Proukakis, J. Cooper +3 more
2005Journal of Neurochemistry71 citations
Semantic Scholar
Somatic copy number gains of &agr;-synuclein (SNCA) in Parkinson’s disease and multiple system atrophy brains
K. Mokretar, D. Pease, J. Taanman, Aynur Soenmez +9 more
2018Brain : a journal of neurology67 citations Open access
Semantic Scholar
A 6.4MB duplication of the alpha-synuclein locus causing fronto-temporal dementia and parkinsonism - phenotype-genotype correlations
E. Kara, A. Kiely, C. Proukakis, N. Giffin +15 more
2014JAMA Neurology64 citations Open access
Semantic Scholar
The H50Q Mutation Induces a 10-fold Decrease in the Solubility of α-Synuclein
Riccardo Porcari, C. Proukakis, C. Waudby, B. Bolognesi +14 more
2014Journal of Biological Chemistry62 citations Open access
Semantic Scholar
Somatic Alpha-Synuclein Mutations in Parkinson's Disease: Hypothesis and Preliminary Data
C. Proukakis, H. Houlden, A. Schapira
2013Movement Disorders60 citations Open access
Semantic Scholar
Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene
M. Toffoli, Xiao Chen, F. Sedlazeck, Chiao Lee +9 more
2022Communications Biology52 citations Open access
Semantic Scholar
A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members
S. Mead, C. Proukakis, N. Wood, A. Crosby +2 more
2001Journal of Neurology Neurosurgery & Psychiatry49 citations Open access
Semantic Scholar
Somatic mutations in neurodegeneration: An update.
C. Proukakis
2020Neurobiology of Disease48 citations Open access
Semantic Scholar
Evolution and clustering of prodromal parkinsonian features in GBA1 carriers
S. Mullin, Michelle S. Beavan, J. Bestwick, A. McNeill +6 more
2019Movement Disorders47 citations Open access
Semantic Scholar
α-Synuclein mutations cluster around a putative protein loop
E. Kara, P. Lewis, H. Ling, C. Proukakis +2 more
2013Neuroscience Letters46 citations Open access
Semantic Scholar
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene
C. Proukakis, M. Auer-Grumbach, K. Wagner, P. Wilkinson +4 more
2003Human Mutation45 citations Open access
Semantic Scholar
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing
D. Pérez-Rodríguez, M. Kalyva, M. Leija-Salazar, T. Lashley +12 more
2019Acta Neuropathologica Communications43 citations Open access
Semantic Scholar
Genome-sequence analyses identify novel risk loci for multiple system atrophy
Ruth Chia, Anindita Ray, Zalak Shah, Jinhui Ding +102 more
2024Neuron37 citations Open access
Semantic Scholar
α-Synuclein structural features inhibit harmful polyunsaturated fatty acid oxidation, suggesting roles in neuroprotection
G. De Franceschi, C. Fecchio, R. Sharon, A. Schapira +3 more
2017Journal of Biological Chemistry35 citations Open access
Semantic Scholar
Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.
C. Proukakis, D. Moore, R. Labrum, N. Wood +1 more
2011Journal of Neurological Sciences35 citations
Semantic Scholar
Troyer syndrome revisited
C. Proukakis, H. Cross, H. Patel, M. Patton +2 more
2004Journal of Neurology35 citations
Semantic Scholar
Complex mosaic structural variations in human fetal brains
Shobana Sekar, Livia Tomasini, C. Proukakis, Taejeong Bae +11 more
2020Genome Research32 citations Open access
Semantic Scholar
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.
C. Proukakis, H. Cross, H. Patel, M. Patton +2 more
2004Journal of Neurology31 citations
Semantic Scholar
No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders
A. Ahmad-Annuar, Paresh R. Shah, M. Hafezparast, H. Hummerich +12 more
2003Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders31 citations Open access
Semantic Scholar
DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation
E. Nacheva, K. Mokretar, Aynur Soenmez, A. Pittman +9 more
2017bioRxiv30 citations Open access
Semantic Scholar
Analysis of Parkinson’s Disease Brain–Derived DNA for Alpha-Synuclein Coding Somatic Mutations
C. Proukakis, Maryiam Shoaee, James Morris, T. Brier +7 more
2014Movement Disorders28 citations Open access
Semantic Scholar
Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra‐familial variability in age of onset and complex phenotype
BN Smith, S. Bevan, C. Vance, P. Renwick +7 more
2009Clinical Genetics23 citations
Semantic Scholar
Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.
C. Proukakis, P. Hart, A. Cornish, T. Warner +1 more
2002Journal of Neurological Sciences19 citations
Semantic Scholar
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia
T. Warner, H. Patel, C. Proukakis, J. A. Reed +4 more
2004Journal of Neurology17 citations
Semantic Scholar
Somatic SNCA Copy Number Variants in Multiple System Atrophy are Related to Pathology and Inclusions
M. E. Garcia-Segura, D. Pérez-Rodríguez, D. Chambers, Z. Jaunmuktane +1 more
2022Movement Disorders15 citations Open access
Semantic Scholar
Phenotypic effect of GBA1 variants in individuals with and without Parkinson disease: the RAPSODI study
M. Toffoli, H. Chohan, Stephen Mullin, Aaron Jesuthasan +21 more
2023medRxiv14 citations Open access
Semantic Scholar

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