E Morava

Affiliations
  • Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.

Publications (88)

N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression.

Circulation
Avec: Marjolein A W van den Boogert , Lars E Larsen , Lubna Ali , Sacha D Kuil , Patrick L W Chong , Anke Loregger , Jeffrey Kroon , Johan G Schnitzler , Alinda W M Schimmel , Jorge Peter , Johannes H M Levels , Gerry Steenbergen , Eva Morava , Geesje M Dallinga-Thie , Ron A Wevers , Jan Albert Kuivenhoven , Nicholas J Hand , Noam Zelcer , Daniel J Rader , Erik S G Stroes , Dirk J Lefeber , Adriaan G Holleboom

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jan Verheijen , Shawn Tahata , Tamas Kozicz , Peter Witters , Eva Morava

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Journal of inherited metabolic disease
Avec: Ruqaiah Altassan , Romain Péanne , Jaak Jaeken , Rita Barone , Muad Bidet , Delphine Borgel , Sandra Brasil , David Cassiman , Anna Cechova , David Coman , Javier Corral , Joana Correia , María Eugenia de la Morena-Barrio , Pascale de Lonlay , Vanessa Dos Reis , Carlos R Ferreira , Agata Fiumara , Rita Francisco , Hudson Freeze , Simone Funke , Thatjana Gardeitchik , Matthijs Gert , Muriel Girad , Marisa Giros , Stephanie Grünewald , Trinidad Hernández-Caselles , Tomas Honzik , Marlen Hutter , Donna Krasnewich , Christina Lam , Joy Lee , Dirk Lefeber , Dorinda Marques-de-Silva , Antonio F Martinez , Hossein Moravej , Katrin Õunap , Carlota Pascoal , Tiffany Pascreau , Marc Patterson , Dulce Quelhas , Kimiyo Raymond , Peymaneh Sarkhail , Manuel Schiff , Małgorzata Seroczyńska , Mercedes Serrano , Nathalie Seta , Jolanta Sykut-Cegielska , Christian Thiel , Federic Tort , Mari-Anne Vals , Paula Videira , Peter Witters , Renate Zeevaert , Eva Morava

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity.

Cell reports
Avec: Teun M Klein Gunnewiek , Eline J H Van Hugte , Monica Frega , Gemma Solé Guardia , Katharina Foreman , Daan Panneman , Britt Mossink , Katrin Linda , Jason M Keller , Dirk Schubert , David Cassiman , Richard Rodenburg , Noemi Vidal Folch , Devin Oglesbee , Ester Perales-Clemente , Timothy J Nelson , Eva Morava , Nael Nadif Kasri , Tamas Kozicz

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Hannah Stamberger , Trine B Hammer , Elena Gardella , Danique R M Vlaskamp , Birgitte Bertelsen , Simone Mandelstam , Iris de Lange , Jing Zhang , Candace T Myers , Christina Fenger , Zaid Afawi , Edith P Almanza Fuerte , Danielle M Andrade , Yunus Balcik , Bruria Ben Zeev , Mark F Bennett , Samuel F Berkovic , Bertrand Isidor , Arjan Bouman , Eva Brilstra , Øyvind L Busk , Anita Cairns , Roseline Caumes , Nicolas Chatron , Russell C Dale , Christa de Geus , Patrick Edery , Deepak Gill , Jacob Bie Granild-Jensen , Lauren Gunderson , Boudewijn Gunning , Gali Heimer , Johan R Helle , Michael S Hildebrand , Georgie Hollingsworth , Volodymyr Kharytonov , Eric W Klee , Bobby P C Koeleman , David A Koolen , Christian Korff , Sébastien Küry , Gaetan Lesca , Dorit Lev , Richard J Leventer , Mark T Mackay , Erica L Macke , Meriel McEntagart , Shekeeb S Mohammad , Pauline Monin , Martino Montomoli , Eva Morava , Sebastien Moutton , Alison M Muir , Elena Parrini , Peter Procopis , Emmanuelle Ranza , Laura Reed , Philipp S Reif , Felix Rosenow , Massimiliano Rossi , Lynette G Sadleir , Tara Sadoway , Helenius J Schelhaas , Amy L Schneider , Krati Shah , Ruth Shalev , Sanjay M Sisodiya , Thomas Smol , Connie T R M Stumpel , Kyra Stuurman , Joseph D Symonds , Frederic Tran Mau-Them , Nienke Verbeek , Judith S Verhoeven , Geoffrey Wallace , Keren Yosovich , Yuri A Zarate , Ayelet Zerem , Sameer M Zuberi , Renzo Guerrini , Heather C Mefford , Chirag Patel , Yue-Hua Zhang , Rikke S Møller , Ingrid E Scheffer

Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice.

Neurobiology of stress
Avec: Graeme Preston , Tim Emmerzaal , Silvia Radenkovic , Ian R Lanza , Devin Oglesbee , Eva Morava , Tamas Kozicz

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.

American journal of human genetics
Avec: Eva Morava , Ulrich A Schatz , Pernille M Torring , Mary-Alice Abbott , Matthias Baumann , Charlotte Brasch-Andersen , Nathalie Chevalier , Ulrike Dunkhase-Heinl , Martin Fleger , Tobias B Haack , Stephen Nelson , Sven Potelle , Silvia Radenkovic , Guido T Bommer , Emile Van Schaftingen , Maria Veiga-da-Cunha

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation
Avec: Marcello Scala , Saskia B Wortmann , Namik Kaya , Menno D Stellingwerff , Angela Pistorio , Emma Glamuzina , Clara D van Karnebeek , Cristina Skrypnyk , Katarzyna Iwanicka-Pronicka , Dorota Piekutowska-Abramczuk , Elżbieta Ciara , Frederic Tort , Beth Sheidley , Annapurna Poduri , Parul Jayakar , Anuj Jayakar , Jariya Upadia , Nicolette Walano , Tobias B Haack , Holger Prokisch , Hesham Aldhalaan , Ehsan G Karimiani , Yilmaz Yildiz , Ahmet C Ceylan , Teresa Santiago-Sim , Amy Dameron , Hui Yang , Mehran B Toosi , Farah Ashrafzadeh , Javad Akhondian , Shima Imannezhad , Hanieh S Mirzadeh , Shazia Maqbool , Aisha Farid , Mohamed A Al-Muhaizea , Meznah O Alshwameen , Lama Aldowsari , Maysoon Alsagob , Ashwaq Alyousef , Rawan AlMass , Aljouhra AlHargan , Ali H Alwadei , Maha M AlRasheed , Dilek Colak , Hanan Alqudairy , Sameena Khan , Matthew A Lines , M Ángeles García Cazorla , Antonia Ribes , Eva Morava , Farah Bibi , Shahzad Haider , Matteo P Ferla , Jenny C Taylor , Hessa S Alsaif , Abdulwahab Firdous , Mais Hashem , Chingiz Shashkin , Kairgali Koneev , Rauan Kaiyrzhanov , Stephanie Efthymiou , Queen Square Genomics , Thomas Schmitt-Mechelke , Andreas Ziegler , Mahmoud Y Issa , Hasnaa M Elbendary , Pasquale Striano , Fowzan S Alkuraya , Maha S Zaki , Joseph G Gleeson , Tahsin Stefan Barakat , Jorgen Bierau , Marjo S van der Knaap , Reza Maroofian , Henry Houlden

Could distal variants in ALG13 lead to atypical clinical presentation?

European journal of medical genetics
Avec: Andrea Accogli , Silvia Radenkovic , Wasantha Ranatunga , Anna N Ligezka , Jean-Baptiste Rivière , Eva Morava , Yannis Trakadis

TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.

Journal of inherited metabolic disease
Avec: Ewout Muylle , Huafang Jiang , Christin Johnsen , Seul Kee Byeon , Wasantha Ranatunga , Kishore Garapati , Roman M Zenka , Graeme Preston , Akhilesh Pandey , Tamas Kozicz , Fang Fang , Eva Morava

Case report: Functional characterization of a

Frontiers in genetics
Avec: Roberta Salinas-Marín , Yoshiko Murakami , Carlos Alberto González-Domínguez , Mario Ernesto Cruz-Muñoz , Héctor Manuel Mora-Montes , Eva Morava , Taroh Kinoshita , Susana Monroy-Santoyo , Iván Martínez-Duncker

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).

JIMD reports
Avec: Ruqaiah Altassan , Dimpna C Albert-Brotons , Mohammad Alowain , Zohair Al-Halees , Jaak Jaeken , Eva Morava

PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.

JIMD reports
Avec: Rodrigo Tzovenos Starosta , Nino Kerashvili , Cassandra Pruitt , Matthew J Schultz , Suzanne W Boyer , Eva Morava , Maria Laura Duque Lasio , Dorothy K Grange

From periphery immunity to central domain through clinical interview as a new insight on schizophrenia.

Scientific reports
Avec: Wirginia Krzyściak , Marta Szwajca , Natalia Śmierciak , Robert Chrzan , Aleksander Turek , Paulina Karcz , Amira Bryll , Maciej Pilecki , Eva Morava , Anna Ligęzka , Tamas Kozicz , Paulina Mazur , Bogna Batko , Anna Skalniak , Tadeusz Popiela

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.

Molecular genetics and metabolism
Avec: Roni Zemet , Kyle D Hope , Andrew C Edmondson , Rameen Shah , Maria Patino , Abigail M Yesso , Justin H Berger , Kyriakie Sarafoglou , Austin Larson , Christina Lam , Eva Morava , Fernando Scaglia

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Journal of inherited metabolic disease
Avec: Bobby G Ng , Erik A Eklund , Sergey A Shiryaev , Yin Y Dong , Mary-Alice Abbott , Carla Asteggiano , Michael J Bamshad , Eileen Barr , Jonathan A Bernstein , Shabeed Chelakkadan , John Christodoulou , Wendy K Chung , Michael A Ciliberto , Janice Cousin , Fiona Gardiner , Suman Ghosh , William D Graf , Stephanie Grunewald , Katherine Hammond , Natalie S Hauser , George E Hoganson , Kimberly M Houck , Jennefer N Kohler , Eva Morava , Austin A Larson , Pengfei Liu , Sujana Madathil , Colleen McCormack , Naomi J L Meeks , Rebecca Miller , Kristin G Monaghan , Deborah A Nickerson , Timothy Blake Palculict , Gabriela Magali Papazoglu , Beth A Pletcher , Ingrid E Scheffer , Andrea Beatriz Schenone , Rhonda E Schnur , Yue Si , Leah J Rowe , Alvaro H Serrano Russi , Rossana Sanchez Russo , Farouq Thabet , Allysa Tuite , María Mercedes Villanueva , Raymond Y Wang , Richard I Webster , Dorcas Wilson , Alice Zalan , Auteur inconnu , Lynne A Wolfe , Jill A Rosenfeld , Lindsay Rhodes , Hudson H Freeze

Chronic fluoxetine or ketamine treatment differentially affects brain energy homeostasis which is not exacerbated in mice with trait suboptimal mitochondrial function.

The European journal of neuroscience
Avec: Tim L Emmerzaal , Leah Jacobs , Bram Geenen , Vivienne Verweij , Eva Morava , Richard J Rodenburg , Tamas Kozicz

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Peter Witters , Shawn Tahata , Rita Barone , Katrin Õunap , Ramona Salvarinova , Sabine Grønborg , George Hoganson , Fernando Scaglia , Andrea Margaret Lewis , Mari Mori , Jolanta Sykut-Cegielska , Andrew Edmondson , Miao He , Eva Morava

Increased Clinical Sensitivity and Specificity of Plasma Protein

Clinical chemistry
Avec: Jie Chen , Xueli Li , Andrew Edmondson , Gail Ditewig Meyers , Kosuke Izumi , Amanda M Ackermann , Eva Morava , Can Ficicioglu , Michael J Bennett , Miao He

Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature.

Molecular genetics and metabolism
Avec: Shawn Tahata , Lauren Gunderson , Brendan Lanpher , Eva Morava

Propeptide glycosylation and galectin-3 binding decrease proteolytic activation of human proMMP-9/progelatinase B.

The FEBS journal
Avec: Lise Boon , Estefania Ugarte-Berzal , Erik Martens , Jennifer Vandooren , Vasily Rybakin , Didier Colau , Monica Gordon-Alonso , Pierre van der Bruggen , Walter Stöcker , Christoph Becker-Pauly , Peter Witters , Eva Morava , Jaak Jaeken , Paul Proost , Ghislain Opdenakker

Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.

Molecular genetics and metabolism
Avec: Alejandro Ferrer , Rodrigo Tzovenos Starosta , Wasantha Ranatunga , Dani Ungar , Tamas Kozicz , Eric Klee , Laura M Rust , Myra Wick , Eva Morava

Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy.

JIMD reports
Avec: Sarah E Donoghue , Susan M White , Tiong Yang Tan , Remi Kowalski , Eva Morava , Joy Yaplito-Lee

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

American journal of human genetics
Avec: Lindsey D Goodman , Heidi Cope , Zelha Nil , Thomas A Ravenscroft , Wu-Lin Charng , Shenzhao Lu , An-Chi Tien , Rolph Pfundt , David A Koolen , Charlotte A Haaxma , Hermine E Veenstra-Knol , Jolien S Klein Wassink-Ruiter , Marijke R Wevers , Melissa Jones , Laurence E Walsh , Victoria H Klee , Miel Theunis , Eric Legius , Dora Steel , Katy E S Barwick , Manju A Kurian , Shekeeb S Mohammad , Russell C Dale , Paulien A Terhal , Ellen van Binsbergen , Brian Kirmse , Bethany Robinette , Benjamin Cogné , Bertrand Isidor , Theresa A Grebe , Peggy Kulch , Bryan E Hainline , Katherine Sapp , Eva Morava , Eric W Klee , Erica L Macke , Pamela Trapane , Christopher Spencer , Yue Si , Amber Begtrup , Matthew J Moulton , Debdeep Dutta , Oguz Kanca , Auteur inconnu , Michael F Wangler , Shinya Yamamoto , Hugo J Bellen , Queenie K-G Tan

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

Journal of inherited metabolic disease
Avec: Daniah Albokhari , Bobby G Ng , Alis Guberinic , Earnest James Paul Daniel , Nicole M Engelhardt , Rita Barone , Agata Fiumara , Livia Garavelli , Gabriele Trimarchi , Lynne Wolfe , Kimiyo M Raymond , Eva Morava , Miao He , Hudson H Freeze , Christina Lam , Andrew C Edmondson

A Participatory Framework for Plain Language Clinical Management Guideline Development.

International journal of environmental research and public health
Avec: Rita Francisco , Susana Alves , Catarina Gomes , Pedro Granjo , Carlota Pascoal , Sandra Brasil , Alice Neves , Inês Santos , Andrea Miller , Donna Krasnewich , Eva Morava , Christina Lam , Jaak Jaeken , Paula A Videira , Vanessa Dos Reis Ferreira

Laboratory and metabolic investigations.

Handbook of clinical neurology
Avec: Eva Morava , Devin Oglesbee

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.

Genes
Avec: Anna N Ligezka , Rohit Budhraja , Yurika Nishiyama , Fabienne C Fiesel , Graeme Preston , Andrew Edmondson , Wasantha Ranatunga , Johan L K Van Hove , Jens O Watzlawik , Wolfdieter Springer , Akhilesh Pandey , Eva Morava , Tamas Kozicz

Congenital disorders of glycosylation: narration of a story through its patents.

Orphanet journal of rare diseases
Avec: Maria Monticelli , Tania D'Onofrio , Jaak Jaeken , Eva Morava , Giuseppina Andreotti , Maria Vittoria Cubellis

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.

Molecular genetics and metabolism
Avec: Ruqaiah Altassan , Michael M Allers , Diederik De Graef , Rameen Shah , Maaike de Vries , Austin Larson , Emma Glamuzina , Eva Morava

A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.

JCI insight
Avec: Kishore Garapati , Rohit Budhraja , Mayank Saraswat , Jinyong Kim , Neha Joshi , Gunveen S Sachdeva , Anu Jain , Anna N Ligezka , Silvia Radenkovic , Madan Gopal Ramarajan , Savita Udainiya , Kimiyo Raymond , Miao He , Christina Lam , Austin Larson , Andrew C Edmondson , Kyriakie Sarafoglou , Nicholas B Larson , Hudson H Freeze , Matthew J Schultz , Tamas Kozicz , Eva Morava , Akhilesh Pandey

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

Molecular genetics and metabolism
Avec: Silvia Radenkovic , Sofie Bleukx , Nicole Engelhardt , Erik Eklund , Saadet Mercimek-Andrews , Andrew C Edmondson , Eva Morava

SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.

Molecular genetics and metabolism
Avec: Christin Johnsen , Nazi Tabatadze , Silvia Radenkovic , Grace Botzo , Bryce Kuschel , Gia Melikishvili , Eva Morava

Effect of neuropsychiatric medications on mitochondrial function: For better or for worse.

Neuroscience and biobehavioral reviews
Avec: Tim L Emmerzaal , Gerben Nijkamp , Marin Veldic , Shamima Rahman , Ana Cristina Andreazza , Eva Morava , Richard J Rodenburg , Tamas Kozicz

A new D-galactose treatment monitoring index for PGM1-CDG.

Journal of inherited metabolic disease
Avec: Ester Perales-Clemente , Kristen Liedtke , April Studinski , Silvia Radenkovic , Dimitar Gavrilov , Devin Oglesbee , Dietrich Matern , Piero Rinaldo , Silvia Tortorelli , Eva Morava , Kimiyo Raymond

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Orphanet journal of rare diseases
Avec: Rodrigo Tzovenos Starosta , Suzanne Boyer , Shawn Tahata , Kimiyo Raymond , Hee Eun Lee , Lynne A Wolfe , Christina Lam , Andrew C Edmondson , Ida Vanessa Doederlein Schwartz , Eva Morava

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.

Orphanet journal of rare diseases
Avec: Peter Witters , Andrew C Edmondson , Christina Lam , Christin Johnsen , Marc C Patterson , Kimiyo M Raymond , Miao He , Hudson H Freeze , Eva Morava

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Molecular genetics and metabolism
Avec: Federica Conte , Eva Morava , Nurulamin Abu Bakar , Saskia B Wortmann , Anne Jonge Poerink , Stephanie Grunewald , Ellen Crushell , Lihadh Al-Gazali , Maaike C de Vries , Lars Mørkrid , Jozef Hertecant , Katja S Brocke Holmefjord , David Kronn , Annette Feigenbaum , Ralph Fingerhut , Sunnie Y Wong , Monique van Scherpenzeel , Nicol C Voermans , Dirk J Lefeber

N-Glycosylation influences human corticosteroid-binding globulin measurements.

Endocrine connections
Avec: Lesley A Hill , Zeynep Sumer-Bayraktar , John G Lewis , Eva Morava , Morten Thaysen-Andersen , Geoffrey L Hammond

Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review.

Journal of inherited metabolic disease
Avec: Rita Francisco , Carlota Pascoal , Dorinda Marques-da-Silva , Eva Morava , Glen A Gole , David Coman , Jaak Jaeken , Vanessa Dos Reis Ferreira

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

American journal of human genetics
Avec: Silvia Radenkovic , Matthew J Bird , Tim L Emmerzaal , Sunnie Y Wong , Catarina Felgueira , Kyle M Stiers , Leila Sabbagh , Nastassja Himmelreich , Gernot Poschet , Petra Windmolders , Jan Verheijen , Peter Witters , Ruqaiah Altassan , Tomas Honzik , Tuba F Eminoglu , Phillip M James , Andrew C Edmondson , Jozef Hertecant , Tamas Kozicz , Christian Thiel , Pieter Vermeersch , David Cassiman , Lesa Beamer , Eva Morava , Bart Ghesquière

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Peter Witters , Tomas Honzik , Eric Bauchart , Ruqaiah Altassan , Tiffany Pascreau , Arnaud Bruneel , Sandrine Vuillaumier , Nathalie Seta , Delphine Borgel , Gert Matthijs , Jaak Jaeken , Wouter Meersseman , David Cassiman , Lonlay Pascale de , Eva Morava

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Journal of inherited metabolic disease
Avec: Anna Čechová , Ruqaiah Altassan , Delphine Borgel , Arnaud Bruneel , Joana Correia , Muriel Girard , Annie Harroche , Beata Kiec-Wilk , Klaus Mohnike , Tiffany Pascreau , Łukasz Pawliński , Silvia Radenkovic , Sandrine Vuillaumier-Barrot , Luis Aldamiz-Echevarria , Maria Luz Couce , Esmeralda G Martins , Dulce Quelhas , Eva Morava , Pascale de Lonlay , Peter Witters , Tomáš Honzík

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.

European journal of medical genetics
Avec: Rodrigo Tzovenos Starosta , Jessica Tarnowski , Filippo Pinto E Vairo , Kimiyo Raymond , Graeme Preston , Eva Morava

Sperm Antioxidant Biomarkers and Their Correlation with Clinical Condition and Lifestyle with Regard to Male Reproductive Potential.

Journal of clinical medicine
Avec: Wirginia Krzyściak , Monika Papież , Ewelina Bąk , Eva Morava , Paweł Krzyściak , Anna Ligęzka , Agnieszka Gniadek , Palina Vyhouskaya , Jarosław Janeczko

Early-adolescent antibiotic exposure results in mitochondrial and behavioral deficits in adult male mice.

Scientific reports
Avec: Anouk C Tengeler , Tim L Emmerzaal , Bram Geenen , Vivienne Verweij , Miranda van Bodegom , Eva Morava , Amanda J Kiliaan , Tamas Kozicz

Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.

Annals of clinical and translational neurology
Avec: Omar Hikmat , Pirjo Isohanni , Nandaki Keshavan , Matteo P Ferla , Elisa Fassone , Mary-Alice Abbott , Marcello Bellusci , Niklas Darin , David Dimmock , Daniele Ghezzi , Henry Houlden , Federica Invernizzi , Nazreen B Kamarus Jaman , Manju A Kurian , Eva Morava , Karin Naess , Juan Darío Ortigoza-Escobar , Sumit Parikh , Alessandra Pennisi , Giulia Barcia , Karin B Tylleskär , Damien Brackman , Saskia B Wortmann , Jenny C Taylor , Laurence A Bindoff , Vineta Fellman , Shamima Rahman

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

American journal of human genetics
Avec: Francesca Clementina Radio , Kaifang Pang , Andrea Ciolfi , Michael A Levy , Andrés Hernández-García , Lucia Pedace , Francesca Pantaleoni , Zhandong Liu , Elke de Boer , Adam Jackson , Alessandro Bruselles , Haley McConkey , Emilia Stellacci , Stefania Lo Cicero , Marialetizia Motta , Rosalba Carrozzo , Maria Lisa Dentici , Kirsty McWalter , Megha Desai , Kristin G Monaghan , Aida Telegrafi , Christophe Philippe , Antonio Vitobello , Margaret Au , Katheryn Grand , Pedro A Sanchez-Lara , Joanne Baez , Kristin Lindstrom , Peggy Kulch , Jessica Sebastian , Suneeta Madan-Khetarpal , Chelsea Roadhouse , Jennifer J MacKenzie , Berrin Monteleone , Carol J Saunders , July K Jean Cuevas , Laura Cross , Dihong Zhou , Taila Hartley , Sarah L Sawyer , Fabíola Paoli Monteiro , Tania Vertemati Secches , Fernando Kok , Laura E Schultz-Rogers , Erica L Macke , Eva Morava , Eric W Klee , Jennifer Kemppainen , Maria Iascone , Angelo Selicorni , Romano Tenconi , David J Amor , Lynn Pais , Lyndon Gallacher , Peter D Turnpenny , Karen Stals , Sian Ellard , Sara Cabet , Gaetan Lesca , Joset Pascal , Katharina Steindl , Sarit Ravid , Karin Weiss , Alison M R Castle , Melissa T Carter , Louisa Kalsner , Bert B A de Vries , Bregje W van Bon , Marijke R Wevers , Rolph Pfundt , Alexander P A Stegmann , Bronwyn Kerr , Helen M Kingston , Kate E Chandler , Willow Sheehan , Abdallah F Elias , Deepali N Shinde , Meghan C Towne , Nathaniel H Robin , Dana Goodloe , Adeline Vanderver , Omar Sherbini , Krista Bluske , R Tanner Hagelstrom , Caterina Zanus , Flavio Faletra , Luciana Musante , Evangeline C Kurtz-Nelson , Rachel K Earl , Britt-Marie Anderlid , Gilles Morin , Marjon van Slegtenhorst , Karin E M Diderich , Alice S Brooks , Joost Gribnau , Ruben G Boers , Teresa Robert Finestra , Lauren B Carter , Anita Rauch , Paolo Gasparini , Kym M Boycott , Tahsin Stefan Barakat , John M Graham , Laurence Faivre , Siddharth Banka , Tianyun Wang , Evan E Eichler , Manuela Priolo , Bruno Dallapiccola , Lisenka E L M Vissers , Bekim Sadikovic , Daryl A Scott , Jimmy Lloyd Holder , Marco Tartaglia

TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Silvia Radenkovic , Diego Martinelli , Yuebo Zhang , Graeme J Preston , Arianna Maiorana , Alessandra Terracciano , Maria Lisa Dentici , Elisa Pisaneschi , Antonio Novelli , Wasantha Ranatunga , Anna N Ligezka , Bart Ghesquière , David R Deyle , Tamas Kozicz , Filippo Pinto E Vairo , Peter Witters , Eva Morava

Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature.

American journal of medical genetics. Part A
Avec: Shawn Tahata , Kimiyo Raymond , Marie Quade , Sara Barnes , Suzanne Boyer , Stacy League , Attila Kumanovics , Roshini Abraham , Eapen Jacob , Prem Menon , Eva Morava

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.

Orphanet journal of rare diseases
Avec: C Pascoal , I Ferreira , C Teixeira , E Almeida , A Slade , S Brasil , R Francisco , A N Ligezka , E Morava , H Plotkin , J Jaeken , P A Videira , L Barros , V Dos Reis Ferreira

Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.

Molecular genetics and metabolism
Avec: Shawn Tahata , Jody Weckwerth , Anna Ligezka , Miao He , Hee Eun Lee , Julie Heimbach , Samar H Ibrahim , Tamas Kozicz , Katryn Furuya , Eva Morava

Tracer metabolomics reveals the role of aldose reductase in glycosylation.

Cell reports. Medicine
Avec: Silvia Radenkovic , Anna N Ligezka , Sneha S Mokashi , Karen Driesen , Lynn Dukes-Rimsky , Graeme Preston , Luckio F Owuocha , Leila Sabbagh , Jehan Mousa , Christina Lam , Andrew Edmondson , Austin Larson , Matthew Schultz , Pieter Vermeersch , David Cassiman , Peter Witters , Lesa J Beamer , Tamas Kozicz , Heather Flanagan-Steet , Bart Ghesquière , Eva Morava

Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1.

JIMD reports
Avec: Katelynn M Wilton , Joel A Morales-Rosado , Duygu Selcen , Karthik Muthusamy , Sarah Ewing , Katherine Agre , Katherine Nickels , Eric W Klee , Mai-Lan Ho , Eva Morava

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.

Journal of inherited metabolic disease
Avec: Miski Mohamed , Thatjana Gardeitchik , Shanti Balasubramaniam , Sergio Guerrero-Castillo , Daisy Dalloyaux , Sanne van Kraaij , Hanka Venselaar , Alexander Hoischen , Zsolt Urban , Ulrich Brandt , Raya Al-Shawi , J Paul Simons , Michele Frison , Lock-Hock Ngu , Bert Callewaert , Hans Spelbrink , Wouter W Kallemeijn , Johannes M F G Aerts , Mark G Waugh , Eva Morava , Ron A Wevers

Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia.

Balkan journal of medical genetics : BJMG
Avec: J Paprocka , B Rzepka-Migut , N Rzepka , A Jezela-Stanek , E Morava

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice.

Translational psychiatry
Avec: Tim L Emmerzaal , Graeme Preston , Bram Geenen , Vivienne Verweij , Maximilian Wiesmann , Elisavet Vasileiou , Femke Grüter , Corné de Groot , Jeroen Schoorl , Renske de Veer , Monica Roelofs , Martijn Arts , Yara Hendriksen , Eva Klimars , Taraka R Donti , Brett H Graham , Eva Morava , Richard J Rodenburg , Tamas Kozicz

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.

Disease models & mechanisms
Avec: Sangeetha Iyer , Feba S Sam , Nina DiPrimio , Graeme Preston , Jan Verheijen , Kausalya Murthy , Zachary Parton , Hillary Tsang , Jessica Lao , Eva Morava , Ethan O Perlstein

Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry
Avec: Eveline Lefever , Peter Witters , Evelien Gielen , Annick Vanclooster , Wouter Meersseman , Eva Morava , David Cassiman , Michaël R Laurent

A Review of Epigenetics of PTSD in Comorbid Psychiatric Conditions.

Genes
Avec: Caren J Blacker , Mark A Frye , Eva Morava , Tamas Kozicz , Marin Veldic

A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.

Journal of inherited metabolic disease
Avec: Bijina Balakrishnan , Jan Verheijen , Arielle Lupo , Kimiyo Raymond , Coleman Turgeon , Yueqin Yang , Kandis L Carter , Kevin J Whitehead , Tamas Kozicz , Eva Morava , Kent Lai

Early role for a Na

Proceedings of the National Academy of Sciences of the United States of America
Avec: Richard S Smith , Marta Florio , Shyam K Akula , Jennifer E Neil , Yidi Wang , R Sean Hill , Melissa Goldman , Christopher D Mullally , Nora Reed , Luis Bello-Espinosa , Laura Flores-Sarnat , Fabiola Paoli Monteiro , Casella B Erasmo , Filippo Pinto E Vairo , Eva Morava , A James Barkovich , Joseph Gonzalez-Heydrich , Catherine A Brownstein , Steven A McCarroll , Christopher A Walsh

Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.

Molecular genetics and metabolism
Avec: Silvia Radenkovic , Taylor Fitzpatrick-Schmidt , Seul Kee Byeon , Anil K Madugundu , Mayank Saraswat , Angie Lichty , Sunnie Y W Wong , Stephen McGee , Katharine Kubiak , Anna Ligezka , Wasantha Ranatunga , Yuebo Zhang , Tim Wood , Michael J Friez , Katie Clarkson , Akhilesh Pandey , Julie R Jones , Eva Morava

Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance.

American journal of medical genetics. Part A
Avec: Karthik Muthusamy , Christian Hanna , Derek R Johnson , Carl H Cramer , Peter J Tebben , Sharon E Libi , Gayla L Poling , Brendan C Lanpher , Eva Morava , Lisa A Schimmenti

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.

Orphanet journal of rare diseases
Avec: Peter Witters , Hans Andersson , Jaak Jaeken , Laura Tseng , Clara D M van Karnebeek , Dirk J Lefeber , David Cassiman , Eva Morava

Deep-Phenotyping the Less Severe Spectrum of

Frontiers in genetics
Avec: Allan Bayat , Manuela Pendziwiat , Ewa Obersztyn , Paula Goldenberg , Pia Zacher , Jan Henje Döring , Steffen Syrbe , Amber Begtrup , Artem Borovikov , Artem Sharkov , Aneta Karasińska , Maria Giżewska , Wendy Mitchell , Eva Morava , Rikke S Møller , Guido Rubboli

Cerebellar mitochondrial dysfunction and concomitant multi-system fatty acid oxidation defects are sufficient to discriminate PTSD-like and resilient male mice.

Brain, behavior, & immunity - health
Avec: Graeme Preston , Tim Emmerzaal , Faisal Kirdar , Laura Schrader , Marloes Henckens , Eva Morava , Tamas Kozicz

Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data.

Molecular genetics and metabolism
Avec: Hannah Barman , Vanja Sikirica , Katherine Carlson , Eli Silvert , Katherine Brewer Carlson , Suzanne Boyer , Ruchira Glaser , Eva Morava , Tyler Wagner , Brendan Lanpher

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up and future directions.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Karthik Muthusamy , Judit M Perez-Ortiz , Anna N Ligezka , Ruqaiah Altassan , Christin Johnsen , Matthew J Schultz , Marc C Patterson , Eva Morava

Galactose epimerase deficiency: lessons from the GalNet registry.

Orphanet journal of rare diseases
Avec: Britt Derks , Didem Demirbas , Rodrigo R Arantes , Samantha Banford , Alberto B Burlina , Analía Cabrera , Ana Chiesa , M Luz Couce , Carlo Dionisi-Vici , Matthias Gautschi , Stephanie Grünewald , Eva Morava , Dorothea Möslinger , Sabine Scholl-Bürgi , Anastasia Skouma , Karolina M Stepien , David J Timson , Gerard T Berry , M Estela Rubio-Gozalbo

Antidepressants that increase mitochondrial energetics may elevate risk of treatment-emergent mania.

Molecular psychiatry
Avec: Manuel Gardea-Resendez , Brandon J Coombes , Marin Veldic , Susannah J Tye , Francisco Romo-Nava , Aysegul Ozerdem , Miguel L Prieto , Alfredo Cuellar-Barboza , Nicolas A Nunez , Balwinder Singh , Richard S Pendegraft , Alessandro Miola , Susan L McElroy , Joanna M Biernacka , Eva Morava , Tamas Kozicz , Mark A Frye

An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis.

JPGN reports
Avec: Nawras Habash , Yaohong Wang , Eva Morava , Samar H Ibrahim

Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.

Human genetics
Avec: Alejandro Ferrer , Patrick Duffy , Rory J Olson , Michael A Meiners , Laura Schultz-Rogers , Erica L Macke , Stephanie Safgren , Joel A Morales-Rosado , Margot A Cousin , Gavin R Oliver , David Rider , Megan Williams , Pavel N Pichurin , David R Deyle , Eva Morava , Ralitza H Gavrilova , Radhika Dhamija , Klass J Wierenga , Brendan C Lanpher , Dusica Babovic-Vuksanovic , Charu Kaiwar , Carolyn R Vitek , Tammy M McAllister , Myra J Wick , Lisa A Schimmenti , Konstantinos N Lazaridis , Filippo Pinto E Vairo , Eric W Klee

TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.

Molecular genetics and metabolism
Avec: Jorge Román Corona-Rivera , Iván Martínez-Duncker , Eva Morava , Wasantha Ranatunga , Roberta Salinas-Marin , Ana María González-Jaimes , Katia Alejandra Castillo-Reyes , Christian Peña-Padilla , Lucina Bobadilla-Morales , Alfredo Corona-Rivera , Mireya Orozco-Vela , Sinhue Alejandro Brukman-Jiménez

Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.

Molecular genetics and metabolism
Avec: Rohit Budhraja , Silvia Radenkovic , Anu Jain , Irena J J Muffels , Moulay Hicham Alaoui Ismaili , Tamas Kozicz , Akhilesh Pandey , Eva Morava

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

Journal of inherited metabolic disease
Avec: Ruqaiah Altassan , Silvia Radenkovic , Andrew C Edmondson , Rita Barone , Sandra Brasil , Anna Cechova , David Coman , Sarah Donoghue , Kristina Falkenstein , Vanessa Ferreira , Carlos Ferreira , Agata Fiumara , Rita Francisco , Hudson Freeze , Stephanie Grunewald , Tomas Honzik , Jaak Jaeken , Donna Krasnewich , Christina Lam , Joy Lee , Dirk Lefeber , Dorinda Marques-da-Silva , Carlota Pascoal , Dulce Quelhas , Kimiyo M Raymond , Daisy Rymen , Malgorzata Seroczynska , Mercedes Serrano , Jolanta Sykut-Cegielska , Christian Thiel , Frederic Tort , Mari-Anne Vals , Paula Videira , Nicol Voermans , Peter Witters , Eva Morava

PMM2-CDG caused by uniparental disomy: Case report and literature review.

JIMD reports
Avec: Laurien Vaes , George E Tiller , Belén Pérez , Suzanne W Boyer , Susan A Berry , Kyriakie Sarafoglou , Eva Morava

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Willemijn J van Rijt , Emmalie A Jager , Derk P Allersma , A Çiğdem Aktuğlu Zeybek , Kaustuv Bhattacharya , François-Guillaume Debray , Carolyn J Ellaway , Matthias Gautschi , Michael T Geraghty , David Gil-Ortega , Austin A Larson , Francesca Moore , Eva Morava , Andrew A Morris , Kimihiko Oishi , Manuel Schiff , Sabine Scholl-Bürgi , Michel C Tchan , Jerry Vockley , Peter Witters , Saskia B Wortmann , Francjan van Spronsen , Johan L K Van Hove , Terry G J Derks

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.

JIMD reports
Avec: Hossein Moravej , Ruqaiah Altassan , Jaak Jaeken , Gregory M Enns , Carolyn Ellaway , Shanti Balasubramaniam , Pascale De Lonlay , David Coman , Saadet Mercimek-Andrews , Peter Witters , Eva Morava

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.

European journal of medical genetics
Avec: Anne Slavotinek , Johanna M van Hagen , Louisa Kalsner , Shashidhar Pai , Laura Davis-Keppen , Lisa Ohden , Yvonne G Weber , Erica L Macke , Eric W Klee , Eva Morava , Lauren Gunderson , Richard Person , Shuxi Liu , Marjan Weiss

Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.

Hepatology (Baltimore, Md.)
Avec: Magda Cannata Serio , Laurie A Graham , Angel Ashikov , Lars Elmann Larsen , Kimiyo Raymond , Sharita Timal , Gwenn Le Meur , Margret Ryan , Elzbieta Czarnowska , Jos C Jansen , Miao He , Can Ficicioglu , Pavel Pichurin , Linda Hasadsri , Berge Minassian , Alessandra Rugierri , Hannu Kalimo , W Alfredo Ríos-Ocampo , Christian Gilissen , Richard Rodenburg , Johan W Jonker , Adriaan G Holleboom , Eva Morava , Joris A Veltman , Piotr Socha , Tom H Stevens , Matias Simons , Dirk J Lefeber

The challenge of CDG diagnosis.

Molecular genetics and metabolism
Avec: R Francisco , D Marques-da-Silva , S Brasil , C Pascoal , V Dos Reis Ferreira , E Morava , J Jaeken

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.

Annals of neurology
Avec: Anna N Ligezka , Silvia Radenkovic , Mayank Saraswat , Kishore Garapati , Wasantha Ranatunga , Wirginia Krzysciak , Hitoshi Yanaihara , Graeme Preston , William Brucker , Renee M McGovern , Joel M Reid , David Cassiman , Karthik Muthusamy , Christin Johnsen , Saadet Mercimek-Andrews , Austin Larson , Christina Lam , Andrew C Edmondson , Bart Ghesquière , Peter Witters , Kimiyo Raymond , Devin Oglesbee , Akhilesh Pandey , Ethan O Perlstein , Tamas Kozicz , Eva Morava

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

American journal of human genetics
Avec: Matthew P Wilson , Alejandro Garanto , Filippo Pinto E Vairo , Bobby G Ng , Wasantha K Ranatunga , Marina Ventouratou , Melissa Baerenfaenger , Karin Huijben , Christian Thiel , Angel Ashikov , Liesbeth Keldermans , Erika Souche , Sandrine Vuillaumier-Barrot , Thierry Dupré , Helen Michelakakis , Agata Fiumara , James Pitt , Susan M White , Sze Chern Lim , Lyndon Gallacher , Heidi Peters , Daisy Rymen , Peter Witters , Antonia Ribes , Blai Morales-Romero , Agustí Rodríguez-Palmero , Diana Ballhausen , Pascale de Lonlay , Rita Barone , Mirian C H Janssen , Jaak Jaeken , Hudson H Freeze , Gert Matthijs , Eva Morava , Dirk J Lefeber

Genotype-Phenotype Correlations in PMM2-CDG.

Genes
Avec: Laurien Vaes , Daisy Rymen , David Cassiman , Anna Ligezka , Nele Vanhoutvin , Dulce Quelhas , Eva Morava , Peter Witters

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.

JIMD reports
Avec: Zhen Qian , Jef Van den Eynde , Stephane Heymans , Luc Mertens , Eva Morava

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

American journal of human genetics
Avec: Dmitrijs Rots , Eric Chater-Diehl , Alexander J M Dingemans , Sarah J Goodman , Michelle T Siu , Cheryl Cytrynbaum , Sanaa Choufani , Ny Hoang , Susan Walker , Zain Awamleh , Joshua Charkow , Stephen Meyn , Rolph Pfundt , Tuula Rinne , Thatjana Gardeitchik , Bert B A de Vries , A Chantal Deden , Erika Leenders , Michael Kwint , Constance T R M Stumpel , Servi J C Stevens , Jeroen R Vermeulen , Jeske V T van Harssel , Danielle G M Bosch , Koen L I van Gassen , Ellen van Binsbergen , Christa M de Geus , Hein Brackel , Maja Hempel , Davor Lessel , Jonas Denecke , Anne Slavotinek , Jonathan Strober , Amy Crunk , Leandra Folk , Ingrid M Wentzensen , Hui Yang , Fanggeng Zou , Francisca Millan , Richard Person , Yili Xie , Shuxi Liu , Lilian B Ousager , Martin Larsen , Laura Schultz-Rogers , Eva Morava , Eric W Klee , Ian R Berry , Jennifer Campbell , Kristin Lindstrom , Brianna Pruniski , Ann M Neumeyer , Jessica A Radley , Chanika Phornphutkul , Berkley Schmidt , William G Wilson , Katrin Õunap , Karit Reinson , Sander Pajusalu , Arie van Haeringen , Claudia Ruivenkamp , Roos Cuperus , Fernando Santos-Simarro , María Palomares-Bralo , Marta Pacio-Míguez , Alyssa Ritter , Elizabeth Bhoj , Elin Tønne , Kristian Tveten , Gerarda Cappuccio , Nicola Brunetti-Pierri , Leah Rowe , Jason Bunn , Margarita Saenz , Konrad Platzer , Mareike Mertens , Oana Caluseriu , Małgorzata J M Nowaczyk , Ronald D Cohn , Peter Kannu , Ebba Alkhunaizi , David Chitayat , Stephen W Scherer , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , David A Koolen , Rosanna Weksberg

Patient-reported outcomes and quality of life in PMM2-CDG.

Molecular genetics and metabolism
Avec: Anna N Ligezka , Anab Mohamed , Carlota Pascoal , Vanessa Dos Reis Ferreira , Suzanne Boyer , Christina Lam , Andrew Edmondson , Wirginia Krzysciak , Raphael Golebiowski , Judit Perez-Ortiz , Eva Morava

Réseau de co-auteurs

Eva Morava 85 collaborations
Tamas Kozicz 22 collaborations
Peter Witters 18 collaborations
Silvia Radenkovic 15 collaborations
Jaak Jaeken 11 collaborations
Christina Lam 11 collaborations
Ruqaiah Altassan 9 collaborations
David Cassiman 9 collaborations
Kimiyo Raymond 9 collaborations
Graeme Preston 9 collaborations
Andrew C Edmondson 9 collaborations
Wasantha Ranatunga 8 collaborations
Anna N Ligezka 8 collaborations
Eric W Klee 7 collaborations
Miao He 7 collaborations
Shawn Tahata 6 collaborations
Akhilesh Pandey 6 collaborations
Dirk J Lefeber 5 collaborations
Rita Barone 5 collaborations
Carlota Pascoal 5 collaborations
Devin Oglesbee 5 collaborations
Erica L Macke 5 collaborations
Christin Johnsen 5 collaborations
Austin Larson 5 collaborations
Hudson H Freeze 5 collaborations
Tim L Emmerzaal 5 collaborations
Andrew Edmondson 5 collaborations
Filippo Pinto E Vairo 5 collaborations
Jan Verheijen 4 collaborations
David Coman 4 collaborations
Agata Fiumara 4 collaborations
Rita Francisco 4 collaborations
Tomas Honzik 4 collaborations
Dulce Quelhas 4 collaborations
Christian Thiel 4 collaborations
Saskia B Wortmann 4 collaborations
Rodrigo Tzovenos Starosta 4 collaborations
Suzanne Boyer 4 collaborations
Bart Ghesquière 4 collaborations
Karthik Muthusamy 4 collaborations
Delphine Borgel 3 collaborations
Sandra Brasil 3 collaborations
Pascale de Lonlay 3 collaborations
Thatjana Gardeitchik 3 collaborations
Donna Krasnewich 3 collaborations
Katrin Õunap 3 collaborations
Tiffany Pascreau 3 collaborations
Jolanta Sykut-Cegielska 3 collaborations
Lauren Gunderson 3 collaborations
David A Koolen 3 collaborations
Mary-Alice Abbott 3 collaborations
Kishore Garapati 3 collaborations
Matthew J Schultz 3 collaborations
Kyriakie Sarafoglou 3 collaborations
Bobby G Ng 3 collaborations
Stephanie Grunewald 3 collaborations
Bram Geenen 3 collaborations
Vivienne Verweij 3 collaborations
Richard J Rodenburg 3 collaborations
Rolph Pfundt 3 collaborations
Kimiyo M Raymond 3 collaborations
Vanessa Dos Reis Ferreira 3 collaborations
Rohit Budhraja 3 collaborations
Mayank Saraswat 3 collaborations
Saadet Mercimek-Andrews 3 collaborations
Marin Veldic 3 collaborations
Anna Ligezka 3 collaborations
Daisy Rymen 3 collaborations
Ron A Wevers 2 collaborations
Adriaan G Holleboom 2 collaborations
Anna Cechova 2 collaborations
Joana Correia 2 collaborations
Hudson Freeze 2 collaborations
Stephanie Grünewald 2 collaborations
Joy Lee 2 collaborations
Dirk Lefeber 2 collaborations
Hossein Moravej 2 collaborations
Manuel Schiff 2 collaborations
Mercedes Serrano 2 collaborations
Nathalie Seta 2 collaborations
Mari-Anne Vals 2 collaborations
Paula Videira 2 collaborations
Richard Rodenburg 2 collaborations
Ester Perales-Clemente 2 collaborations
Bertrand Isidor 2 collaborations
Russell C Dale 2 collaborations
Gaetan Lesca 2 collaborations
Shekeeb S Mohammad 2 collaborations
Rikke S Møller 2 collaborations
Ingrid E Scheffer 2 collaborations
Tim Emmerzaal 2 collaborations
Tobias B Haack 2 collaborations
Emma Glamuzina 2 collaborations
Frederic Tort 2 collaborations
Hui Yang 2 collaborations
Antonia Ribes 2 collaborations
Matteo P Ferla 2 collaborations
Jenny C Taylor 2 collaborations
Tahsin Stefan Barakat 2 collaborations
Henry Houlden 2 collaborations
Seul Kee Byeon 2 collaborations
Iván Martínez-Duncker 2 collaborations
Suzanne W Boyer 2 collaborations
Wirginia Krzyściak 2 collaborations
Anna Ligęzka 2 collaborations
Rameen Shah 2 collaborations
Fernando Scaglia 2 collaborations
Austin A Larson 2 collaborations
Kristin G Monaghan 2 collaborations
Yue Si 2 collaborations
None None 2 collaborations
Lynne A Wolfe 2 collaborations
Can Ficicioglu 2 collaborations
Brendan Lanpher 2 collaborations
Alejandro Ferrer 2 collaborations
Susan M White 2 collaborations
Marijke R Wevers 2 collaborations
Manju A Kurian 2 collaborations
Ellen van Binsbergen 2 collaborations
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Amber Begtrup 2 collaborations
Johan L K Van Hove 2 collaborations
Anu Jain 2 collaborations
Shamima Rahman 2 collaborations
Hee Eun Lee 2 collaborations
Marc C Patterson 2 collaborations
Jozef Hertecant 2 collaborations
Sunnie Y Wong 2 collaborations
Dorinda Marques-da-Silva 2 collaborations
Leila Sabbagh 2 collaborations
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Arnaud Bruneel 2 collaborations
Gert Matthijs 2 collaborations
Wouter Meersseman 2 collaborations
Sandrine Vuillaumier-Barrot 2 collaborations
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Lyndon Gallacher 2 collaborations
Louisa Kalsner 2 collaborations
Bert B A de Vries 2 collaborations
Lisenka E L M Vissers 2 collaborations
Yuebo Zhang 2 collaborations
David R Deyle 2 collaborations
C Pascoal 2 collaborations
S Brasil 2 collaborations
R Francisco 2 collaborations
J Jaeken 2 collaborations
V Dos Reis Ferreira 2 collaborations
Samar H Ibrahim 2 collaborations
Joel A Morales-Rosado 2 collaborations
Shanti Balasubramaniam 2 collaborations
Ethan O Perlstein 2 collaborations
Mark A Frye 2 collaborations
Brendan C Lanpher 2 collaborations
Lisa A Schimmenti 2 collaborations
Matthias Gautschi 2 collaborations
Sabine Scholl-Bürgi 2 collaborations
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Laurien Vaes 2 collaborations
Anne Slavotinek 2 collaborations
Richard Person 2 collaborations
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Angel Ashikov 2 collaborations
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Marjolein A W van den Boogert 1 collaboration
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