Researcher profile · Semantic Scholar

I. Mavridou

h-index: 11
Works: 25
Citations: 395

Most-cited papers

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants
M. Kroos, M. Hoogeveen-Westerveld, H. Michelakakis, R. Pomponio +43 more
2012Human Mutation78 citations
Semantic Scholar
Galactosialidosis: review and analysis of CTSA gene mutations
A. Caciotti, Serena Catarzi, Rodolfo Tonin, L. Lugli +7 more
2013Orphanet Journal of Rare Diseases65 citations Open access
Semantic Scholar
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
A. Caciotti, F. Melani, Rodolfo Tonin, Lucrezia Cellai +9 more
2019Molecular Genetics and Metabolism37 citations
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Investigation of original multivalent iminosugars as pharmacological chaperones for the treatment of Gaucher disease.
E. Laigre, D. Hazelard, J. Casas, Jenny Serra-Vinardell +5 more
2016Carbohydrate Research26 citations
Semantic Scholar
Danon disease: Further clinical and molecular heterogeneity
F. Sabourdy, H. Michelakakis, A. Anastasakis, V. Garcia +8 more
2009Muscle and Nerve22 citations
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Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece
E. Dimitriou, M. Moraitou, M. Cozar, Jenny Serra-Vinardell +4 more
2020Molecular Genetics and Metabolism Reports20 citations Open access
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Seven cases of Pompe disease from Greece
M. Kroos, P. Manta, I. Mavridou, F. Muntoni +6 more
2006Journal of Inherited Metabolic Disease18 citations
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Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.
H. Michelakakis, M. Moraitou, I. Mavridou, E. Dimitriou
2009Clinica chimica acta; international journal of clinical chemistry17 citations
Semantic Scholar
Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies
Helen Michelakakis, E. Dimitriou, S. van Weely, R. Boot +3 more
1995Journal of Inherited Metabolic Disease15 citations
Semantic Scholar
The Spectrum of Niemann-Pick Type C Disease in Greece.
I. Mavridou, E. Dimitriou, M. Vanier, L. Vilageliu +7 more
2017JIMD Reports14 citations Open access
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Niemann–Pick type C disease: a novel NPC1 mutation segregating in a Greek island
I. Mavridou, M. Cozar, S. Douzgou, Athina Xaidara +6 more
2014Clinical Genetics12 citations
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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays
Ineke Labrijn-Marks, Galhana M. Somers-Bolman, Stijn L. M. In 't Groen, M. Hoogeveen-Westerveld +16 more
2019European Journal of Human Genetics11 citations Open access
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Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of α‐1‐C‐Substituted Imino‐D‐xylitols (DIXs) by Click Chemistry
Jenny Serra-Vinardell, Lucía Díaz, J. Casas, D. Grinberg +7 more
2014ChemMedChem11 citations
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Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.
Fabien Stauffert, Jenny Serra-Vinardell, Marta Gómez-Grau, H. Michelakakis +7 more
2017Organic and biomolecular chemistry10 citations
Semantic Scholar
Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience.
G. Papadimas, C. Anagnostopoulos, S. Xirou, H. Michelakakis +4 more
2020Neuromuscular Disorders9 citations
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Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency.
D. Zafeiriou, E. Vargiami, K. Papadopoulou, E. Dimitriou +4 more
2007European journal of paediatric neurology8 citations
Semantic Scholar
Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.
Jenny Serra-Vinardell, Lucía Díaz, H. Gutiérrez-de-Terán, G. Sánchez-Ollé +8 more
2014International Journal of Biochemistry and Cell Biology7 citations Open access
Semantic Scholar
Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance.
M. Moraitou, E. Dimitriou, I. Mavridou, H. Michelakakis +3 more
2012Clinica chimica acta; international journal of clinical chemistry6 citations
Semantic Scholar
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
E. Dimitriou, M. Cozar, I. Mavridou, D. Grinberg +2 more
2015JIMD Reports5 citations
Semantic Scholar
Plasma lysosomal enzyme levels in patients with motor neuron disease
Helen Michelakakis, A. Papadimitriou, R. Divaris, I. Mavridou +1 more
1995Journal of Inherited Metabolic Disease5 citations
Semantic Scholar
Colistin kills bacteria by targeting lipopolysaccharide in the cytoplasmic membrane 2 3 4
A. Sabnis, Anna Klöckner, M. Becce, Lindsay E. Evans +4 more
20190 citations
Semantic Scholar
Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.
Fabien Stauffert, Jenny Serra-Vinardell, Marta Gómez-Grau, H. Michelakakis +7 more
2017Organic and biomolecular chemistry0 citations Open access
Semantic Scholar
P287 – 1966 Pompe disease (PD): clinical outcome in infants and children treated with recombinant human acid alpha-glucosidase (rhGAA)
D. Lianou, D. Syrengelas, N. Andreou, I. Chantzopoulos +2 more
20130 citations
Semantic Scholar
MLP010 Pompe disease: early signs of benefit in a child with late-onset form following treatment with enzyme replacement therapy (ERT)
D. Lianou, D. Syrengelas, P. Poulopoulos, K. Kotsonis +4 more
20070 citations
Semantic Scholar
Night Blindness Due to Juvenile Pompe’s Disease (Type II Glycogenosis)
E. Tsina, A. Koidou, D. Lianou, H. Michelakakis +4 more
20060 citations
Semantic Scholar

Jenny Serra-Vinardell

×6

J. Casas×5

A. Delgado×5

Philippe Compain×4

M. Moraitou×4

D. Lianou×4

M. Kroos×3

A. Reuser×3