Michelakakis, Helen: search on Z-Library

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1

X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

Karapanou, Olga, Vlassopoulou, Barbara, Tzanela, Marinella, Papadopoulos, Dimitrios, Angelidakis, Panagiotis, Michelakakis, Helen, Ioannidis, George, Mihalatos, Markos, Kamakari, Smaragda, Tsagarakis,

Journal:

Year:

2014

Language:

english

File:

PDF, 372 KB

english, 2014

2

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece

Dimitriou, Evangelia, Moraitou, Marina, Cozar, MÃ³nica, Serra-Vinardell, Jenny, Vilageliu, LluÃ¯sa, Grinberg, Daniel, Mavridou, Irene, Michelakakis, Helen

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 214 KB

2020

3

Diabetes mellitus associated with glycogen storage disease type III

Konstantinos Spengos, Helen Michelakakis, Adamantios Vontzalidis, Vasiliki Zouvelou, Panagiota Manta

Journal:

Year:

2009

Language:

english

File:

PDF, 110 KB

english, 2009

4

Danon disease: Further clinical and molecular heterogeneity

Frédérique Sabourdy, Helen Michelakakis, Aris Anastasakis, Virginie Garcia, Irene Mavridou, Michèle Nieto, Marie-Claude Pons, Constantinos Skiadas, Marina Moraitou, Panagiota Manta, Milan Elleder, Thi

Journal:

Year:

2009

Language:

english

File:

PDF, 282 KB

english, 2009

5

In vivo effects of high phenylalanine blood levels on Na+,K+-ATPase, Mg2+-ATPase activities and biogenic amine concentrations in phenylketonuria

Kleopatra H Schulpis, Joanna Tjamouranis, George A Karikas, Helen Michelakakis, Stylianos Tsakiris

Journal:

Clinical Biochemistry

Year:

2002

Language:

english

File:

PDF, 54 KB

english, 2002

6

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

Malekkou, Anna, Sevastou, Ioanna, Mavrikiou, Gavriella, Georgiou, Theodoros, Vilageliu, Lluisa, Moraitou, Marina, Michelakakis, Helen, Prokopiou, Chrystalla, Drousiotou, Anthi

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

Language:

english

File:

PDF, 603 KB

english, 2020

7

Galactosialidosis: review and analysis ofCTSAgene mutations

Anna Caciotti, Serena Catarzi, Rodolfo Tonin, Licia Lugli, Carmen Rodriguez Perez, Helen Michelakakis, Irene Mavridou, Maria Alice Donati, Renzo Guerrini, Alessandra d’Azzo, Amelia Morrone…show all 11

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 320 KB

english, 2013

8

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

Marian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, Robert Pomponio, Ans Van der Ploeg, Dicky Halley, Arnold Reuser, GAA Database Consortium:, Persephone Augoustides-Savvopoulou, Margreet

Journal:

Year:

2012

Language:

english

File:

PDF, 148 KB

english, 2012

9

Metachromatic leukodystrophy in Greece: observations on 4 cases

Helen Michelakakis, Evagelia Dimitriou, Ch. Bartsocas, Angeliki Skardoutsou, S. Giouroukos

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 320 KB

english, 1990

10

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

Eduard Paschke, Ivica Milos, Heidemarie Kreimer-Erlacher, Gerald Hoefler, Michael Beck, Maria Hoeltzenbein, Wim Kleijer, Thierry Levade, Helen Michelakakis, B. Radeva

Journal:

Year:

2001

Language:

english

File:

PDF, 130 KB

english, 2001

11

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Jansen, Jos C., Timal, Sharita, van Scherpenzeel, Monique, Michelakakis, Helen, Vicogne, Dorothée, Ashikov, Angel, Moraitou, Marina, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, van den Bo

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 2.82 MB

english, 2016

12

Mutation analysis in 20 patients with Hunter disease

Sandra Leistner Goldenfum, Elisabeth Young, Helen Michelakakis, S. Tsagarakis, Bryan Winchester

Journal:

Year:

1996

Language:

english

File:

PDF, 244 KB

english, 1996

13

Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II

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 Bossh

Journal:

Year:

2004

Language:

english

File:

PDF, 282 KB

english, 2004

14

LATE ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY: A CASE REPORT

Fessatou, Smaragdi, Garoufi, Anastasia, Tsapra, Helen, Maropoulos, George, Michelakakis, Helen, Schulpis, Kleopatra

Journal:

Fetal and Pediatric Pathology

Year:

2003

Language:

english

File:

PDF, 98 KB

english, 2003

15

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease

Serra-Vinardell, Jenny, Díaz, Lucía, Gutiérrez-de-Terán, Hugo, Sánchez-Ollé, Gessamí, Bujons, Jordi, Michelakakis, Helen, Mavridou, Irene, Aerts, Johannes M.F.G., Delgado, Antonio, Grinberg, Daniel, V

Journal:

The International Journal of Biochemistry & Cell Biology

Year:

2014

Language:

english

File:

PDF, 2.04 MB

english, 2014

16

Phenotypic Characteristics in GBA-Associated Parkinson’s Disease: A Study in a Greek Population

Simitsi, Athina, Koros, Christos, Moraitou, Marina, Papagiannakis, Nikos, Antonellou, Roubina, Bozi, Maria, Angelopoulou, Efthalia, Stamelou, Maria, Michelakakis, Helen, Stefanis, Leonidas

Journal:

Journal of Parkinson s Disease

Year:

2018

Language:

english

File:

PDF, 55 KB

english, 2018

17

Nutritional Status and Growth in Children Less than 12 kg Treated with Continuous Ambulatory Peritoneal Dialysis

Stefanidis, Constantinos, Michelakaki, Helen, Koulieri, Alexandra, Michelis, Kyeiakos

Journal:

Peritoneal Dialysis International

Year:

1993

Language:

english

File:

PDF, 32 KB

english, 1993

18

Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity

Stauffert, Fabien, Serra-Vinardell, Jenny, Gómez-Grau, Marta, Michelakakis, Helen, Mavridou, Irene, Grinberg, Daniel, Vilageliu, Lluïsa, Casas, Josefina, Bodlenner, Anne, Delgado, Antonio, Compain, Ph

Journal:

Organic & Biomolecular Chemistry

Year:

2017

Language:

english

File:

PDF, 2.86 MB

english, 2017

19

Severe autoimmune neutropenia associated with bone marrow sea-blue histiocytosis

Helen A. Papadaki, Helen Michelakaki, Juergen Bux, George D. Eliopoulos

Journal:

British Journal of Haematology

Year:

2002

Language:

english

File:

PDF, 79 KB

english, 2002

20

Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency

Dimitrios I. Zafeiriou, Euthymia Vargiami, Kyriaki Papadopoulou, Evangelia Dimitriou, Irene Mavridou, Raul Santamaria, Isaak Canals, Helen Michelakakis

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 800 KB

english, 2008

21

The effect of cytochalasin B on the release of lysosomal enzymes and intra-lysosomally-stored polyvinylpyrrolidone in the isolated perfused rat liver

Helen Michelakakis, Christopher J. Danpure

Journal:

Biochemical Pharmacology

Year:

1984

Language:

english

File:

PDF, 586 KB

english, 1984

22

TNF-α levels and TNF-α gene polymorphism in type I Gaucher disease

Gheona Altarescu, Ari Zimran, Helen Michelakakis, Deborah Elstein

Journal:

Year:

2005

Language:

english

File:

PDF, 105 KB

english, 2005

23

Late-onset Pompe's disease in a hemodialysis patient: A first case report

Eleftheriadis, Theodoros, Makri, Panagiota, Karakosta, Paschalia, Pissas, Georgios, Liakopoulos, Vassilios, Michelakakis, Helen, Hadjigeorgiou, Georgios M., Stefanidis, Ioannis

Journal:

Hemodialysis International

Year:

2017

Language:

english

File:

PDF, 56 KB

english, 2017

24

The Effect of Cytochalasin B on the Release of Lysosomal Enzymes from Isolated Rat Hepatocytes

MICHELAKAKIS, HELEN, DANPURE, CHRISTOPHER J.

Journal:

Biochemical Society Transactions

Year:

1979

Language:

english

File:

PDF, 217 KB

english, 1979

25

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele

Raül Santamaria, Helen Michelakakis, Marina Moraitou, Evangelia Dimitriou, Silvia Dominissini, Serena Grossi, Gessamí Sánchez-Ollé, Amparo Chabás, María Gabriela Pittis, Mirella Filocamo, Lluïsa Vilag

Journal:

Year:

2008

Language:

english

File:

PDF, 362 KB

english, 2008

26

PEX1 deficiency presenting as Leber congenital amaurosis

Helen M. Michelakakis, Dimitrios I. Zafeiriou, Marina S. Moraitou, Jeannette Gootjes, Ronald J.A. Wanders

Journal:

Pediatric Neurology

Year:

2004

Language:

english

File:

PDF, 141 KB

english, 2004

27

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients

Anthoula Chatzikyriakidou, Eirini Louizou, George V.Z. Dedousis, Luigi Bisceglia, Helen Michelakakis, Ioannis Georgiou

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 118 KB

english, 2008

28

Increased dimerization of alpha-synuclein in erythrocytes in Gaucher disease and aging

Assimina Argyriou, Georgia Dermentzaki, Themistoklis Papasilekas, Marina Moraitou, Eleftherios Stamboulis, Kostas Vekrellis, Helen Michelakakis, Leonidas Stefanis

Journal:

Neuroscience Letters

Year:

2012

Language:

english

File:

PDF, 411 KB

english, 2012

29

Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow‐up of hereditary fructose intolerance

Marina Moraitou, Evangelia Dimitriou, Irene Mavridou, Helen Michelakakis, Helen Georgouli, Rafal Ploski, Agnieszka Pollak

Journal:

Clinica Chimica Acta

Year:

2012

Language:

english

File:

PDF, 152 KB

english, 2012

30

Pregnancy in Gaucher disease

Nafsika Sakarelou, Zoe Kosmaidou, Spyros Mesogitis, Evagelia Dimitriou, Helen Michelakakis

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

1999

Language:

english

File:

PDF, 46 KB

english, 1999

31

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

Doris Hofer, Karl Paul, Katrin Fantur, Michael Beck, Friederike Bürger, Catherine Caillaud, Ksenija Fumic, Jana Ledvinova, Agnieszka Lugowska, Helen Michelakakis, Briguita Radeva, Uma Ramaswami, Barba

Journal:

Year:

2009

Language:

english

File:

PDF, 290 KB

english, 2009

32

Erythrocyte membrane acetylcholinesterase, Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia

Stylianos Tsakiris, Helen Michelakakis, Kleopatra H. Schulpis

Journal:

Acta Paediatrica

Year:

2005

Language:

english

File:

PDF, 77 KB

english, 2005

33

Investigation of original multivalent iminosugars as pharmacological chaperones for the treatment of Gaucher disease

Laigre, Eugénie, Hazelard, Damien, Casas, Josefina, Serra-Vinardell, Jenny, Michelakakis, Helen, Mavridou, Irene, Aerts, JohannesM.F.G., Delgado, Antonio, Compain, Philippe

Journal:

Carbohydrate Research

Year:

2016

Language:

english

File:

PDF, 868 KB

english, 2016

34

Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity

Stauffert, Fabien, Serra-Vinardell, Jenny, Gómez-Grau, Marta, Michelakakis, Helen, Mavridou, Irene, Grinberg, Daniel, Vilageliu, Lluïsa, Casas, Josefina, Bodlenner, Anne, Delgado, Antonio, Compain, Ph

Journal:

Organic & Biomolecular Chemistry

Year:

2017

Language:

english

File:

PDF, 131 KB

english, 2017

35

Gaucher disease: Plasmalogen levels in relation to primary lipid abnormalities and oxidative stress

Moraitou, Marina, Dimitriou, Evangelia, Dekker, Nick, Monopolis, Ioannis, Aerts, Johannes, Michelakakis, Helen

Journal:

Blood Cells, Molecules, and Diseases

Year:

2014

Language:

english

File:

PDF, 284 KB

english, 2014

36

The effect of diet on total antioxidant status, erythrocyte membrane Na+,K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia

Kleopatra H. Schulpis, Helen Michelakakis, Theodore Tsakiris, Stylianos Tsakiris

Journal:

Clinical Nutrition

Year:

2005

Language:

english

File:

PDF, 205 KB

english, 2005

37

Plasmalogen levels in Gaucher disease

Marina Moraitou, Evangelia Dimitriou, Dimitrios Zafeiriou, Constantina Reppa, Theodoros Marinakis, Jasmin Sarafidou, Helen Michelakakis

Journal:

Blood Cells, Molecules, and Diseases

Year:

2008

Language:

english

File:

PDF, 307 KB

english, 2008

38

Acetylcholinesterase Activity and Biogenic Amines in Phenylketonuria

Schulpis, Kleopatra H, Karikas, George A, Tjamouranis, Joanna, Michelakakis, Helen, Tsakiris, Stylianos

Journal:

Clinical Chemistry

Year:

2002

File:

PDF, 110 KB

2002

39

Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient

Dimitra Lianou, Lorena Gallego, Helen Michelakakis, Celia Pérez-Cerdá, Belén Pérez, Stavroula Ginis, Cornelis Jakobs, Magdalena Ugarte, Lourdes R. Desviat

Journal:

Clinica Chimica Acta

Year:

2010

Language:

english

File:

PDF, 118 KB

english, 2010

40

The facile detection of 1505G→A in Gaucher patients with different phenotypes

Marina Moraitou, Sonja van Weely, Marri Verhoek, Johannes Aerts, Evangelia Dimitriou, Helen Michelakakis

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2001

Language:

english

File:

PDF, 344 KB

english, 2001

41

Choline and L-carnitine as precursors of trimethylamine

HOLMES, Heather C., BURNS, Shamus P., MICHELAKAKIS, Helen, KORDONI, V., BAIN, Murray D., CHALMERS, Ronald A., RAFTER, Joan E. M., ILES, Richard A.

Journal:

Biochemical Society Transactions

Year:

1997

Language:

english

File:

PDF, 140 KB

english, 1997

42

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

Matthew Feldhammer, Stéphanie Durand, Lenka Mrázová, Renée-Myriam Boucher, Rachel Laframboise, Robert Steinfeld, James E. Wraith, Helen Michelakakis, Otto P. van Diggelen, Martin Hřebíček, Stanislav K

Journal:

Year:

2009

Language:

english

File:

PDF, 231 KB

english, 2009

43

Reduced acetylcholinesterase activity in erythrocyte membranes from patients with phenylketonuria

Stylianos Tsakiris, Kleopatra H Schulpis, Joanna Tjamouranis, Helen Michelakakis, George A Karikas

Journal:

Clinical Biochemistry

Year:

2002

Language:

english

File:

PDF, 62 KB

english, 2002

44

The release of intralysosomally-stored 125I-triton WR-1339 and lysosomal enzymes from the isolated perfused rat liver in the presence and absence of cytochalasin B

Helen Michelakakis, Christopher J. Danpure

Journal:

Biochemical Pharmacology

Year:

1986

Language:

english

File:

PDF, 646 KB

english, 1986

45

α-Synuclein dimerization in erythrocytes of Gaucher disease patients: correlation with lipid abnormalities and oxidative stress

Moraitou, Marina, Dermentzaki, Georgia, Dimitriou, Evangelia, Monopolis, Ioannis, Dekker, Nick, Aerts, Hans, Stefanis, Leonidas, Michelakakis, Helen

Journal:

Neuroscience Letters

Year:

2015

Language:

english

File:

PDF, 340 KB

english, 2015

46

Lysosomal alterations in peripheral blood mononuclear cells of Parkinson's disease patients

Papagiannakis, Nikolaos, Xilouri, Maria, Koros, Christos, Stamelou, Maria, Antonelou, Roubina, Maniati, Matina, Papadimitriou, Dimitra, Moraitou, Marina, Michelakakis, Helen, Stefanis, Leonidas

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

47

Homozygosity for the double D409H+H255Q allele in type II Gaucher disease

Helen Michelakakis, Marina Moraitou, Evagelia Dimitriou, Raul Santamaria, Gessami Sanchez, Laura Gort, Amparo Chabas, Daniel Grinberg, Maria Dassopoulou, Spyros Fotopoulos, Lluisa Vilageliu

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 153 KB

english, 2006

48

Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and Sanfilippo diseases

Dimitriou, Evangelia, Paschali, Evangelia, Kanariou, Maria, Michelakakis, Helen

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 193 KB

english, 2019

49

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview

Caciotti, Anna, Melani, Federico, Tonin, Rodolfo, Cellai, Lucrezia, Catarzi, Serena, Procopio, Elena, Chilleri, Chiara, Mavridou, Irene, Michelakakis, Helen, Fioravanti, Antonella, d’Azzo, Alessandra,

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 4.44 MB

english, 2019

50

Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease

Helen Michelakakis, Georgia Xiromerisiou, Efthimios Dardiotis, Maria Bozi, Demetrios Vassilatis, Persa-Maria Kountra, Gianna Patramani, Marina Moraitou, Dimitra Papadimitriou, Eleftherios Stamboulis,

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 879 KB

english, 2012

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