Truus E M Abbink

Affiliations

Department of Child Neurology, Emma Childrens Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, The Netherlands (M.D.S., T.E.M.A.); Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Italy (S.F., C.D., P.G.); Area di Ricerca Genetica e Malattie Rare (E.B.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; Laboratory of Oncology and Molecular Genetics (K.A.), Clínica las Condes, Santiago, Chile; Department of Pediatric Neurology (C.C.), Clínica Las Condes, Santiago, Chile; Division of Child Neurology (P.T.), Department of Neurology, Istanbul Faculty of Medicine, Turkey; Department of Paediatrics (C.A.S.), Royal Childrens Hospital, Murdoch Childrens Research Institute and University of Melbourne, Victoria, Australia; Pediatric Neurology (C.E.E.), Radboud University Medical Center, Amalia Childrens Hospital, Nijmegen, The Netherlands; Department of Pediatrics (A.S.-V.), University of South Florida, Tampa; Unit of Pediatric Neurology and Neurorehabilitation (S.L.), Department WomanMother-Child, Lausanne University Hospital, Switzerland; Community Pediatrics, Royal Berkshire Hospital, Reading (S.H.), United Kingdom; Neuropediatric Department (T.S.-M.), Childrens Hospital, Luzern, Switzerland; Unit of Neurorehabilitation (G.V.), Department of Neurosciences, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy; Paediatric Neurology (G.C.), Nottingham Childrens Hospital, United Kingdom; PEDEGO Research Unit (E.R.), Medical Research Center and Department of Clinical Genetics, University of Oulu and Oulu University Hospital, Finland; Radiology (C.O.), Clínica las Condes, Santiago, Chile; Unit of Neuromuscular and Neurodegenerative Disorders (E.S.B), Area di Ricerca Genetica e Malattie Rare and Department of Neurosciences, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy; and Department of Child Neurology (M.S.v.d.K.), Emma Childrens Hospital and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.

Publications (11)

Translation initiation factor eIF2Bε promotes Wnt-mediated clonogenicity and global translation in intestinal epithelial cells.

Stem cell research

Avec: W L Smit , R J de Boer , B J Meijer , C N Spaan , M van Roest , P J Koelink , J Koster , E Dekker , T E M Abbink , M S van der Knaap , G R van den Brink , V Muncan , J Heijmans

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.

Neurology. Genetics

Avec: Menno D Stellingwerff , Sonia Figuccia , Emanuele Bellacchio , Karin Alvarez , Claudia Castiglioni , Pinar Topaloglu , Chloe A Stutterd , Corrie E Erasmus , Amarilis Sanchez-Valle , Sebastien Lebon , Sarah Hughes , Thomas Schmitt-Mechelke , Gessica Vasco , Gabriel Chow , Elisa Rahikkala , Cristina Dallabona , Cecilia Okuma , Chiara Aiello , Paola Goffrini , Truus E M Abbink , Enrico S Bertini , Marjo S Van der Knaap

Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1.

Annals of clinical and translational neurology

Avec: Diede Witkamp , Ellen Oudejans , Gino V Hu-A-Ng , Leoni Hoogterp , Aleksandra M Krzywańska , Milo Žnidaršič , Kevin Marinus , Christina F de Veij Mestdagh , Imke Bartelink , Marianna Bugiani , Marjo S van der Knaap , Truus E M Abbink

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Molecular genetics & genomic medicine

Avec: Inna Slynko , Stephanie Nguyen , Eline M C Hamilton , Lisanne E Wisse , Iwan J P de Esch , Chris de Graaf , John B Bruning , Christopher G Proud , Truus E M Abbink , Marjo S van der Knaap

Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.

Brain : a journal of neurology

Avec: Emma M J Passchier , Sven Kerst , Eelke Brouwers , Eline M C Hamilton , Quinty Bisseling , Marianna Bugiani , Quinten Waisfisz , Philip Kitchen , Lucas Unger , Marjolein Breur , Leoni Hoogterp , Sharon I de Vries , Truus E M Abbink , Maarten H P Kole , Rob Leurs , Henry F Vischer , Maria S Brignone , Elena Ambrosini , François Feillet , Alfred P Born , Leon G Epstein , Huibert D Mansvelder , Rogier Min , Marjo S van der Knaap

DDX5 potentiates HIV-1 transcription as a co-factor of Tat.

Retrovirology

Avec: Nyaradzai Sithole , Claire A Williams , Truus E M Abbink , Andrew M L Lever

Vanishing white matter: deregulated integrated stress response as therapy target.

Annals of clinical and translational neurology

Avec: Truus E M Abbink , Lisanne E Wisse , Ermelinda Jaku , Michiel J Thiecke , Daniel Voltolini-González , Hein Fritsen , Sander Bobeldijk , Timo J Ter Braak , Emiel Polder , Nienke L Postma , Marianna Bugiani , Eduard A Struijs , Mark Verheijen , Nina Straat , Sophie van der Sluis , Adri A M Thomas , Douwe Molenaar , Marjo S van der Knaap

Genome sequencing in persistently unsolved white matter disorders.

Annals of clinical and translational neurology

Avec: Guy Helman , Bryan R Lajoie , Joanna Crawford , Asako Takanohashi , Marzena Walkiewicz , Egor Dolzhenko , Andrew M Gross , Vladimir G Gainullin , Stephen J Bent , Emma M Jenkinson , Sacha Ferdinandusse , Hans R Waterham , Imen Dorboz , Enrico Bertini , Noriko Miyake , Nicole I Wolf , Truus E M Abbink , Susan M Kirwin , Christina M Tan , Grace M Hobson , Long Guo , Shiro Ikegawa , Amy Pizzino , Johanna L Schmidt , Genevieve Bernard , Raphael Schiffmann , Marjo S van der Knaap , Cas Simons , Ryan J Taft , Adeline Vanderver

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

Frontiers in genetics

Avec: Emma M J Passchier , Quinty Bisseling , Guy Helman , Rosalina M L van Spaendonk , Cas Simons , René C L Olsthoorn , Hieke van der Veen , Truus E M Abbink , Marjo S van der Knaap , Rogier Min

Lithium: effects in animal models of vanishing white matter are not promising.

Frontiers in neuroscience

Avec: Diede Witkamp , Ellen Oudejans , Leoni Hoogterp , Gino V Hu-A-Ng , Kathryn A Glaittli , Tamara J Stevenson , Marleen Huijsmans , Truus E M Abbink , Marjo S van der Knaap , Joshua L Bonkowsky

ESCRT-II functions by linking to ESCRT-I in human immunodeficiency virus-1 budding.

Cellular microbiology

Avec: Bo Meng , Natasha C Y Ip , Truus E M Abbink , Julia C Kenyon , Andrew M L Lever

Réseau de co-auteurs

Marjo S van der Knaap 7 collaborations

Leoni Hoogterp 3 collaborations

Marianna Bugiani 3 collaborations

Diede Witkamp 2 collaborations

Ellen Oudejans 2 collaborations

Gino V Hu-A-Ng 2 collaborations

Eline M C Hamilton 2 collaborations

Lisanne E Wisse 2 collaborations

Emma M J Passchier 2 collaborations

Quinty Bisseling 2 collaborations

Rogier Min 2 collaborations

Andrew M L Lever 2 collaborations

Guy Helman 2 collaborations

Cas Simons 2 collaborations

W L Smit 1 collaboration

R J de Boer 1 collaboration

B J Meijer 1 collaboration

C N Spaan 1 collaboration

M van Roest 1 collaboration

P J Koelink 1 collaboration

J Koster 1 collaboration

E Dekker 1 collaboration

T E M Abbink 1 collaboration

M S van der Knaap 1 collaboration

G R van den Brink 1 collaboration

V Muncan 1 collaboration

J Heijmans 1 collaboration

Menno D Stellingwerff 1 collaboration

Sonia Figuccia 1 collaboration

Emanuele Bellacchio 1 collaboration

Karin Alvarez 1 collaboration

Claudia Castiglioni 1 collaboration

Pinar Topaloglu 1 collaboration

Chloe A Stutterd 1 collaboration

Corrie E Erasmus 1 collaboration

Amarilis Sanchez-Valle 1 collaboration

Sebastien Lebon 1 collaboration

Sarah Hughes 1 collaboration

Thomas Schmitt-Mechelke 1 collaboration

Gessica Vasco 1 collaboration

Gabriel Chow 1 collaboration

Elisa Rahikkala 1 collaboration

Cristina Dallabona 1 collaboration

Cecilia Okuma 1 collaboration

Chiara Aiello 1 collaboration

Paola Goffrini 1 collaboration

Enrico S Bertini 1 collaboration

Marjo S Van der Knaap 1 collaboration

Aleksandra M Krzywańska 1 collaboration

Milo Žnidaršič 1 collaboration

Kevin Marinus 1 collaboration

Christina F de Veij Mestdagh 1 collaboration

Imke Bartelink 1 collaboration

Inna Slynko 1 collaboration

Stephanie Nguyen 1 collaboration

Iwan J P de Esch 1 collaboration

Chris de Graaf 1 collaboration

John B Bruning 1 collaboration

Christopher G Proud 1 collaboration

Sven Kerst 1 collaboration

Eelke Brouwers 1 collaboration

Quinten Waisfisz 1 collaboration

Philip Kitchen 1 collaboration

Lucas Unger 1 collaboration

Marjolein Breur 1 collaboration

Sharon I de Vries 1 collaboration

Maarten H P Kole 1 collaboration

Rob Leurs 1 collaboration

Henry F Vischer 1 collaboration

Maria S Brignone 1 collaboration

Elena Ambrosini 1 collaboration

François Feillet 1 collaboration

Alfred P Born 1 collaboration

Leon G Epstein 1 collaboration

Huibert D Mansvelder 1 collaboration

Nyaradzai Sithole 1 collaboration

Claire A Williams 1 collaboration

Ermelinda Jaku 1 collaboration

Michiel J Thiecke 1 collaboration

Daniel Voltolini-González 1 collaboration

Hein Fritsen 1 collaboration

Sander Bobeldijk 1 collaboration

Timo J Ter Braak 1 collaboration

Emiel Polder 1 collaboration

Nienke L Postma 1 collaboration

Eduard A Struijs 1 collaboration

Mark Verheijen 1 collaboration

Nina Straat 1 collaboration

Sophie van der Sluis 1 collaboration

Adri A M Thomas 1 collaboration

Douwe Molenaar 1 collaboration

Bryan R Lajoie 1 collaboration

Joanna Crawford 1 collaboration

Asako Takanohashi 1 collaboration

Marzena Walkiewicz 1 collaboration

Egor Dolzhenko 1 collaboration

Andrew M Gross 1 collaboration

Vladimir G Gainullin 1 collaboration

Stephen J Bent 1 collaboration

Emma M Jenkinson 1 collaboration

Sacha Ferdinandusse 1 collaboration

Hans R Waterham 1 collaboration

Imen Dorboz 1 collaboration

Enrico Bertini 1 collaboration

Noriko Miyake 1 collaboration

Nicole I Wolf 1 collaboration

Susan M Kirwin 1 collaboration

Christina M Tan 1 collaboration

Grace M Hobson 1 collaboration

Long Guo 1 collaboration

Shiro Ikegawa 1 collaboration

Amy Pizzino 1 collaboration

Johanna L Schmidt 1 collaboration

Genevieve Bernard 1 collaboration

Raphael Schiffmann 1 collaboration

Ryan J Taft 1 collaboration

Adeline Vanderver 1 collaboration

Rosalina M L van Spaendonk 1 collaboration

René C L Olsthoorn 1 collaboration

Hieke van der Veen 1 collaboration

Kathryn A Glaittli 1 collaboration

Tamara J Stevenson 1 collaboration

Marleen Huijsmans 1 collaboration

Joshua L Bonkowsky 1 collaboration

Bo Meng 1 collaboration

Natasha C Y Ip 1 collaboration

Julia C Kenyon 1 collaboration