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Author Details

Romain P??anne
Center for Human Genetics
2011
14
11
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
31036665Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype.Proc Natl Acad Sci U S A2019
30740725International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.J Inherit Metab Dis2019
29079546Congenital disorders of glycosylation (CDG): Quo vadis?Eur J Med Genet2018
29947113Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.Electrophoresis2018
28653174Erratum to: What is new in CDG?J Inherit Metab Dis2017
28484880What is new in CDG?J Inherit Metab Dis2017
28270545Manganese-induced turnover of TMEM165.Biochem J2017
29127204Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects.J Exp Med2017
24566669Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.Brain2014
22584409Glycosylation disorders of membrane trafficking.Glycoconj J2013
24295306Assessing ER and Golgi N-glycosylation process using metabolic labeling in mammalian cultured cells.Methods Cell Biol2013
24348268MAN1B1 deficiency: an unexpected CDG-II.PLoS Genet2013
21062782Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1.Glycobiology2011
21315133Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).Biochimie2011
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Collaborators

Fran??ois Foulquier
CNRS, Universite de Lille
Co-authored papers 10
Gert Matthijs
Center for Human Genetics, KU Leuven and University Hospitals Leuven
Co-authored papers 10
Jaak Jaeken
Co-authored papers 7
Sandrine Duvet
University Lille, CNRS
Co-authored papers 5
Daisy Rymen
Center for Metabolic Diseases, University Hospitals of Leuven
Co-authored papers 4
Dirk J Lefeber
Co-authored papers 3
Dulce Quelhas
Unidade de Bioquimica Genetica, Centro Hospitalar Universitario do Porto
Co-authored papers 3
Stephanie Grunewald
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 2
Nathalie Seta
Co-authored papers 2
Valérie Race
Co-authored papers 2
Kimiyo Raymond
Co-authored papers 2
Thorsten Marquardt
University Children's Hospital Munster
Co-authored papers 2
Erika Souche
Center for Human Genetics
Co-authored papers 2
Virginie Hauser
California Institute of Technology
Co-authored papers 1
Esther M Maier
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University
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Peter Freisinger
Hospital Reutlingen
Co-authored papers 1
Nevan J Krogan (CM4AI)
University of California San Francisco
Co-authored papers 1
Stefanie J??ger
Institute of Molecular Biosciences, Goethe University Frankfurt
Co-authored papers 1
Susana Nobre
Centro Hospitalar e Universitario de Coimbra
Co-authored papers 1
Magda Cannata Serio
INSERM UMR3, Institut IMAGINE
Co-authored papers 1
Maria Clara Guida
Sanford-Burnham-Prebys Medical Discovery Institute
Co-authored papers 1
Tiffany Pascreau
Co-authored papers 1
Julien H Park
Umea University
Co-authored papers 1
Thomas D Bird
University of Washington School of Medicine
Co-authored papers 1
Delphine Borgel
Co-authored papers 1
Wendy H Raskind
University of Washington School of Medicine
Co-authored papers 1
Yoshinao Wada
Osaka Women's and Children's Hospital
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Michael Schwake
Northwestern University
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Janine Reunert
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Release 1.2