Eva Morava
AuthID: R-00G-F4P
1
TITLE: Patient-reported outcomes and quality of life in PMM2-CDG Full Text
AUTHORS: Ligezka, Anna N.; Mohamed, Anab; Pascoal, Carlota; Ferreira, Vanessa Dos Reis; Boyer, Suzanne; Lam, Christina; Edmondson, Andrew; Krzysciak, Wirginia; Golebiowski, Raphael; Perez Ortiz, Judit; Morava, Eva;
PUBLISHED: 2022, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 136, ISSUE: 2
AUTHORS: Ligezka, Anna N.; Mohamed, Anab; Pascoal, Carlota; Ferreira, Vanessa Dos Reis; Boyer, Suzanne; Lam, Christina; Edmondson, Andrew; Krzysciak, Wirginia; Golebiowski, Raphael; Perez Ortiz, Judit; Morava, Eva;
PUBLISHED: 2022, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 136, ISSUE: 2
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
AUTHORS: Cechova, A; Honzik, T; Edmondson, AC; Ficicioglu, C; Serrano, M; Barone, R; De Lonlay, P; Schiff, M; Witters, P; Lam, C; Patterson, M; Janssen, MCH; Correia, J; Quelhas, D; Sykut Cegielska, J; Plotkin, H; Morava, E; Sarafoglou, K;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 133, ISSUE: 4
AUTHORS: Cechova, A; Honzik, T; Edmondson, AC; Ficicioglu, C; Serrano, M; Barone, R; De Lonlay, P; Schiff, M; Witters, P; Lam, C; Patterson, M; Janssen, MCH; Correia, J; Quelhas, D; Sykut Cegielska, J; Plotkin, H; Morava, E; Sarafoglou, K;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 133, ISSUE: 4
INDEXED IN: WOS
WOS3
TITLE: Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review
AUTHORS: Francisco, R; Pascoal, C; Marques da Silva, D; Morava, E; Gole, GA; Coman, D; Jaeken, J; Dos Reis Ferreira, V;
PUBLISHED: 2018, SOURCE: Journal of Inherited Metabolic Disease
AUTHORS: Francisco, R; Pascoal, C; Marques da Silva, D; Morava, E; Gole, GA; Coman, D; Jaeken, J; Dos Reis Ferreira, V;
PUBLISHED: 2018, SOURCE: Journal of Inherited Metabolic Disease
INDEXED IN: Scopus
Scopus4
TITLE: JIMD Reports, Volume 40
AUTHORS: Eva Morava; Matthias Baumgartner; Marc Patterson; Shamima Rahman; Johannes Zschocke; Verena Peters;
PUBLISHED: 2018
AUTHORS: Eva Morava; Matthias Baumgartner; Marc Patterson; Shamima Rahman; Johannes Zschocke; Verena Peters;
PUBLISHED: 2018
INDEXED IN: 
Openlibrary
Openlibrary5
TITLE: Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation Full Text
AUTHORS: Claudia de Freitas ; Vanessa dos Reis; Susana Silva ; Paula A Videira; Eva Morava; Jaak Jaeken;
PUBLISHED: 2017, SOURCE: BMC HEALTH SERVICES RESEARCH, VOLUME: 17, ISSUE: 1
AUTHORS: Claudia de Freitas ; Vanessa dos Reis; Susana Silva ; Paula A Videira; Eva Morava; Jaak Jaeken;
PUBLISHED: 2017, SOURCE: BMC HEALTH SERVICES RESEARCH, VOLUME: 17, ISSUE: 1
6
TITLE: CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
AUTHORS: Jos C Jansen; Sebahattin Cirak; Monique van Scherpenzeel; Sharita Timal; Janine Reunert; Stephan Rust; Belen Perez; Dorothee Vicogne; Peter Krawitz; Yoshinao Wada; Angel Ashikov; Celia Perez Cerda; Celia Medrano; Andrea Arnoldy; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Dulce Quelhas; Luisa Diogo; Daisy Rymen; ...More
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 98, ISSUE: 2
AUTHORS: Jos C Jansen; Sebahattin Cirak; Monique van Scherpenzeel; Sharita Timal; Janine Reunert; Stephan Rust; Belen Perez; Dorothee Vicogne; Peter Krawitz; Yoshinao Wada; Angel Ashikov; Celia Perez Cerda; Celia Medrano; Andrea Arnoldy; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Dulce Quelhas; Luisa Diogo; Daisy Rymen; ...More
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 98, ISSUE: 2
7
TITLE: Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa Full Text
AUTHORS: Thatjana Gardeitchik; Miski Mohamed; Bjoern Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki Joong Kim; Bing C Lim; Johannes Haeberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leao; Riikka Keski Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; ...More
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 7
AUTHORS: Thatjana Gardeitchik; Miski Mohamed; Bjoern Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki Joong Kim; Bing C Lim; Johannes Haeberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leao; Riikka Keski Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; ...More
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 7
8
TITLE: JIMD Reports - Case and Research Reports, 2012/4
AUTHORS: Garry Brown; Eva Morava; Johannes Zschocke; Michael M Gibson; Verena Peters;
PUBLISHED: 2012
AUTHORS: Garry Brown; Eva Morava; Johannes Zschocke; Michael M Gibson; Verena Peters;
PUBLISHED: 2012
INDEXED IN: Openlibrary
Openlibrary9
TITLE: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Full Text
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
INDEXED IN: Scopus 
CrossRef
Scopus CrossRef10
TITLE: Null mutations and lethal congenital form of glycogen storage disease type IV Full Text
AUTHORS: Stefania Assereto; Otto P van Diggelen; Luisa Diogo; Eva Morava; Denise Cassandrini; Isabel Carreira; Willem Pieter de Boode; Jildau Dilling; Paula Garcia; Margarida Henriques; Olinda Rebelo; Henk ter Laak; Carlo Minetti; Claudio Bruno;
PUBLISHED: 2007, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 361, ISSUE: 2
AUTHORS: Stefania Assereto; Otto P van Diggelen; Luisa Diogo; Eva Morava; Denise Cassandrini; Isabel Carreira; Willem Pieter de Boode; Jildau Dilling; Paula Garcia; Margarida Henriques; Olinda Rebelo; Henk ter Laak; Carlo Minetti; Claudio Bruno;
PUBLISHED: 2007, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 361, ISSUE: 2
