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Screening for galactosaemia in Greece.
Published in:
1997
By:
- Schulpis, Kleopatra;
- Papakonstantinou, Evangelos D.;
- Michelakakis, Helen;
- Podskarbi, Theodor;
- Patsouras, Aristoula;
- Shin, Yoon;
- Schulpis, K;
- Papakonstantinou, E D;
- Michelakakis, H;
- Podskarbi, T;
- Patsouras, A;
- Shin, Y
Publication type:
journal article
Galactosialidosis: review and analysis of CTSA gene mutations.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-114
By:
- Caciotti, Anna;
- Catarzi, Serena;
- Tonin, Rodolfo;
- Lugli, Licia;
- Perez, Carmen Rodriguez;
- Michelakakis, Helen;
- Mavridou, Irene;
- Donati, Maria Alice;
- Guerrini, Renzo;
- D'Azzo, Alessandra;
- Morrone, Amelia
Publication type:
Article
Galactosialidosis: review and analysis of CTSA gene mutations.
Published in:
2013
By:
- Caciotti, Anna;
- Catarzi, Serena;
- Tonin, Rodolfo;
- Lugli, Licia;
- Perez, Carmen Rodriguez;
- Michelakakis, Helen;
- Mavridou, Irene;
- Donati, Maria Alice;
- Guerrini, Renzo;
- d'Azzo, Alessandra;
- Morrone, Amelia
Publication type:
journal article
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1090
By:
- Malekkou, Anna;
- Sevastou, Ioanna;
- Mavrikiou, Gavriella;
- Georgiou, Theodoros;
- Vilageliu, Lluisa;
- Moraitou, Marina;
- Michelakakis, Helen;
- Prokopiou, Chrystalla;
- Drousiotou, Anthi
Publication type:
Article
Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment.
Published in:
2016
By:
- Kanakis, Menelaos G.;
- Michelakakis, Helen;
- Petrou, Petros;
- Koutsandrea, Chrysanthi;
- Georgalas, Ilias
Publication type:
Case Study
Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
Published in:
BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0409-4
By:
- Bountouvi, Evangelia;
- Papadopoulou, Anna;
- Vanier, Marie T.;
- Nyktari, Georgia;
- Kanellakis, Spyridon;
- Michelakakis, Helen;
- Dinopoulos, Argyrios
Publication type:
Article
Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells.
Published in:
PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060674
By:
- Dermentzaki, Georgia;
- Dimitriou, Evangelia;
- Xilouri, Maria;
- Michelakakis, Helen;
- Stefanis, Leonidas
Publication type:
Article
Diabetes mellitus associated with glycogen storage disease type III.
Published in:
Muscle & Nerve, 2009, v. 39, n. 6, p. 876, doi. 10.1002/mus.21201
By:
- Spengos, Konstantinos;
- Michelakakis, Helen;
- Vontzalidis, Adamantios;
- Zouvelou, Vasiliki;
- Manta, Panagiota
Publication type:
Article
Danon disease: Further clinical and molecular heterogeneity.
Published in:
Muscle & Nerve, 2009, v. 39, n. 6, p. 837, doi. 10.1002/mus.21252
By:
- Sabourdy, Frédérique;
- Michelakakis, Helen;
- Anastasakis, Aris;
- Garcia, Virginie;
- Mavridou, Irene;
- Nieto, Michèle;
- Pons, Marie-Claude;
- Skiadas, Constantinos;
- Moraitou, Marina;
- Manta, Panagiota;
- Elleder, Milan;
- Levade, Thierry
Publication type:
Article
Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
Published in:
Human Genetics, 2001, v. 109, n. 2, p. 159, doi. 10.1007/s004390100570
By:
- Paschke, Eduard;
- Milos, Ivica;
- Kreimer-Erlacher, Heidemarie;
- Hoefler, Gerald;
- Beck, Michael;
- Hoeltzenbein, Maria;
- Kleijer, Wim;
- Levade, Thierry;
- Michelakakis, Helen;
- Radeva, B.
Publication type:
Article
Correction: Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells.
Published in:
2021
By:
- Dermentzaki, Georgia;
- Dimitriou, Evangelia;
- Xilouri, Maria;
- Michelakakis, Helen;
- Stefanis, Leonidas
Publication type:
Correction Notice
Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review.
Published in:
Children, 2021, v. 8, n. 2, p. 1, doi. 10.3390/children8020112
By:
- Karava, Vasiliki;
- Kondou, Antonia;
- Dotis, John;
- Sotiriou, Georgia;
- Gerou, Spyridon;
- Michelakakis, Helen;
- Vargiami, Euthymia;
- Economou, Marina;
- Zafeiriou, Dimitrios;
- Printza, Nikoleta
Publication type:
Article
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 769, doi. 10.1002/jimd.12496
By:
- Abu Bakar, Nurulamin;
- Ashikov, Angel;
- Brum, Jaime Moritz;
- Smeets, Roel;
- Kersten, Marjan;
- Huijben, Karin;
- Keng, Wee Teik;
- Speck‐Martins, Carlos Eduardo;
- de Carvalho, Daniel Rocha;
- de Rizzo, Isabela Maria Pinto Oliveira;
- de Mello, Walquiria Domingues;
- Heiner‐Fokkema, Rebecca;
- Gorman, Kathleen;
- Grunewald, Stephanie;
- Michelakakis, Helen;
- Moraitou, Marina;
- Martinelli, Diego;
- van Scherpenzeel, Monique;
- Janssen, Mirian;
- de Boer, Lonneke
Publication type:
Article
"Old Roads—New Connections" SSIEM 2018 Annual Symposium in Athens.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 1, doi. 10.1002/jimd.12212
By:
- Michelakakis, Helen
Publication type:
Article
Toward understanding tissue‐specific symptoms in dolichol‐phosphate‐mannose synthesis disorders; insight from DPM3‐CDG.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 984, doi. 10.1002/jimd.12095
By:
- Tol, Walinka;
- Michelakakis, Helen;
- Georgiadou, Elissavet;
- Bergh, Peter;
- Moraitou, Marina;
- Papadimas, George K.;
- Papadopoulos, Constantinos;
- Huijben, Karin;
- Alsady, Mohammad;
- Willemsen, Michèl A.;
- Lefeber, Dirk J.
Publication type:
Article
Impact of APOE Genotype on Cognition in Idiopathic and Genetic Forms of Parkinson's Disease.
Published in:
Movement Disorders, 2023, v. 38, n. 5, p. 907, doi. 10.1002/mds.29399
By:
- Koros, Christos;
- Brockmann, Kathrin;
- Simitsi, Athina‐Maria;
- Bougea, Anastasia;
- Liu, Hui;
- Hauser, Ann‐Kathrin;
- Schulte, Claudia;
- Lerche, Stefanie;
- Pachi, Ioanna;
- Papagiannakis, Nikolaos;
- Antonelou, Roubina;
- Zahou, Athina;
- Wurster, Isabel;
- Efthymiopoulou, Efthymia;
- Beratis, Ion;
- Maniati, Matina;
- Moraitou, Marina;
- Michelakakis, Helen;
- Paraskevas, Georgios;
- Papageorgiou, Sokratis G.
Publication type:
Article
Circulating Brain-enriched MicroRNAs for detection and discrimination of idiopathic and genetic Parkinson's disease.
Published in:
2020
By:
- Ravanidis, Stylianos;
- Bougea, Anastasia;
- Papagiannakis, Nikolaos;
- Maniati, Matina;
- Koros, Christos;
- Simitsi, Athina‐Maria;
- Bozi, Maria;
- Pachi, Ioanna;
- Stamelou, Maria;
- Paraskevas, George P.;
- Kapaki, Elisabeth;
- Moraitou, Marina;
- Michelakakis, Helen;
- Stefanis, Leonidas;
- Doxakis, Epaminondas;
- Simitsi, Athina-Maria
Publication type:
journal article
a-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy.
Published in:
PLoS ONE, 2023, v. 17, n. 2, p. 1, doi. 10.1371/journal.pone.0277602
By:
- Moraitou, Marina;
- Sotiroudis, Georgios;
- Papagiannakis, Nikolaos;
- Ferraz, Maria M. J.;
- Xenakis, Aristotelis;
- Aerts, Johannes M. F. G.;
- Stefanis, Leonidas;
- Michelakakis, Helen
Publication type:
Article
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 58, doi. 10.1002/ajmg.a.33779
By:
- Héron, Bénédicte;
- Mikaeloff, Yann;
- Froissart, Roseline;
- Caridade, Guillaume;
- Maire, Irène;
- Caillaud, Catherine;
- Levade, Thierry;
- Chabrol, Brigitte;
- Feillet, François;
- Ogier, Hélène;
- Valayannopoulos, Vassili;
- Michelakakis, Helen;
- Zafeiriou, Dimitrios;
- Lavery, Lucy;
- Wraith, Ed;
- Danos, Olivier;
- Heard, Jean-Michel;
- Tardieu, Marc
Publication type:
Article
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.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1161, doi. 10.1002/humu.22108
By:
- Kroos, Marian;
- Hoogeveen-Westerveld, Marianne;
- Michelakakis, Helen;
- Pomponio, Robert;
- Van der Ploeg, Ans;
- Halley, Dicky;
- Reuser, Arnold;
- Augoustides-Savvopoulou, Persephone;
- Ausems, Margreet;
- Llona, Jose Barcena;
- Bautista Lorite, Juan;
- van der Beek, Nadine;
- Bonafe, Luisa;
- Cuk, Mario;
- D'Hooghe, Marc;
- Engelen, Baziel;
- Farouk, A.;
- Fumic, K.;
- Garcia-Delgado, E.;
- Herzog, Andreas
Publication type:
Article
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase ( HGSNAT) gene.
Published in:
2009
By:
- Feldhammer, Matthew;
- Durand, Stéphanie;
- Mrázová, Lenka;
- Boucher, Renée-Myriam;
- Laframboise, Rachel;
- Steinfeld, Robert;
- Wraith, James E.;
- Michelakakis, Helen;
- van Diggelen, Otto P.;
- Hřebíček, Martin;
- Kmoch, Stanislav;
- Pshezhetsky, Alexey V.
Publication type:
Other
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase.
Published in:
Human Mutation, 2009, v. 30, n. 8, p. 1214, doi. 10.1002/humu.21031
By:
- Hofer, Doris;
- Paul, Karl;
- Fantur, Katrin;
- Beck, Michael;
- Bürger, Friederike;
- Caillaud, Catherine;
- Fumic, Ksenija;
- Ledvinova, Jana;
- Lugowska, Agnieszka;
- Michelakakis, Helen;
- Radeva, Briguita;
- Ramaswami, Uma;
- Plecko, Barbara;
- Paschke, Eduard
Publication type:
Article
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
Published in:
Human Mutation, 2008, v. 29, n. 6, p. E58, doi. 10.1002/humu.20776
By:
- Santamaria, Raül;
- Michelakakis, Helen;
- Moraitou, Marina;
- Dimitriou, Evangelia;
- Dominissini, Silvia;
- Grossi, Serena;
- Sánchez-Ollé, Gessamí;
- Chabás, Amparo;
- Pittis, María Gabriela;
- Filocamo, Mirella;
- Vilageliu, Lluïsa;
- Grinberg, Daniel
Publication type:
Article
Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of α-1- C-Substituted Imino- D-xylitols (DIXs) by Click Chemistry.
Published in:
ChemMedChem, 2014, v. 9, n. 8, p. 1744, doi. 10.1002/cmdc.201402023
By:
- Serra‐Vinardell, Jenny;
- Díaz, Lucía;
- Casas, Josefina;
- Grinberg, Daniel;
- Vilageliu, Lluïsa;
- Michelakakis, Helen;
- Mavridou, Irene;
- Aerts, Johannes M. F. G.;
- Decroocq, Camille;
- Compain, Philippe;
- Delgado, Antonio
Publication type:
Article
Erythrocyte membrane acetylcholinesterase, Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia.
Published in:
2005
By:
- Tsakiris, Stylianos;
- Michelakakis, Helen;
- Schulpis, Kleopatra H.
Publication type:
journal article
Lysosomal alterations in peripheral blood mononuclear cells of Parkinson's disease patients.
Published in:
2015
By:
- Papagiannakis, Nikolaos;
- Xilouri, Maria;
- Koros, Christos;
- Stamelou, Maria;
- Antonelou, Roubina;
- Maniati, Matina;
- Papadimitriou, Dimitra;
- Moraitou, Marina;
- Michelakakis, Helen;
- Stefanis, Leonidas
Publication type:
journal article
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease.
Published in:
Movement Disorders, 2012, v. 27, n. 3, p. 400, doi. 10.1002/mds.24886
By:
- Michelakakis, Helen;
- Xiromerisiou, Georgia;
- Dardiotis, Efthimios;
- Bozi, Maria;
- Vassilatis, Demetrios;
- Kountra, Persa-Maria;
- Patramani, Gianna;
- Moraitou, Marina;
- Papadimitriou, Dimitra;
- Stamboulis, Eleftherios;
- Stefanis, Leonidas;
- Zintzaras, Elias;
- Hadjigeorgiou, Georgios M.
Publication type:
Article
Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotypephenotype correlation in glycogen storage disease type II (Communicated by Elizabeth Neufeld).
Published in:
Human Mutation, 2004, v. 23, n. 1, p. 47, doi. 10.1002/humu.10286
By:
- Monique M.P. Hermans;
- Dik van Leenen;
- Marian A. Kroos;
- Clare E. Beesley;
- Ans T. Van der Ploeg;
- Hitoshi Sakuraba;
- Ron Wevers;
- Wim Kleijer;
- Helen Michelakakis;
- Edwin P. Kirk;
- Janice Fletcher;
- Nils Bosshard;
- Lina Basel-Vanagaite;
- Guy Besley;
- Arnold J.J. Reuser
Publication type:
Article
Mutation analysis in 20 patients with Hunter disease.
Published in:
Human Mutation, 1996, v. 7, n. 1, p. 76, doi. 10.1002/(SICI)1098-1004(1996)7:1<76::AID-HUMU14>3.0.CO;2-P
By:
- Goldenfum, Sandra Leistner;
- Young, Elisabeth;
- Michelakakis, Helen;
- Tsagarakis, S.;
- Winchester, Bryan
Publication type:
Article
Metachromatic leukodystrophy in Greece: observations on 4 cases.
Published in:
Clinical Genetics, 1990, v. 37, n. 1, p. 30, doi. 10.1111/j.1399-0004.1990.tb03387.x
By:
- Michelakakis, Helen;
- Dimitriou, Evagelia;
- Bartsocas, Ch.;
- Skardoutsou, Angeliki;
- Giouroukos, S.
Publication type:
Article

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