ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy

Jonathan Marquez, Flavien Rouxel, Fatima E. It, Victor Couturier, Laurence Duplomb, Valentin Bourgeois, Anne-Sophie Briffaut, Ange-Line Bruel, Martin Chevarin, Benjamin Ganne, Bobby G. Ng, Stephen Viviano, Mara P.N. Hektor, Rafia A. Pasha, Vincent Gatinois, Camille Larrieu-Arguille, Jean-Michel Faure, Olivier Prodhomme, Maxime Colmard, François Rivier, Okubo Yukimune, Charlotte Poe, Isabelle Rouvet, Antonio Vitobello, Christel Thauvin, Gerardo D. Rodriguez-Gomez, Leandra K. Tolusso, Yu Katata, Atsuo Kikuchi, Trevor L. Hoffman, Hans C. Andersson, Engin Deniz, Miao He, Constance F. Wells, Anne-Sophie Denommé-Pichon, Andrew C. Edmondson, Hudson H. Freeze, Christina Lam

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DOI: 10.1016/j.xhgg.2026.100650
Published: 2026-10
Container: Human Genetics and Genomics Advances
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.xhgg.2026.100650,
  title = {ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy},
  author = {Jonathan Marquez and Flavien Rouxel and Fatima E. It and Victor Couturier and Laurence Duplomb and Valentin Bourgeois and Anne-Sophie Briffaut and Ange-Line Bruel and Martin Chevarin and Benjamin Ganne and Bobby G. Ng and Stephen Viviano and Mara P.N. Hektor and Rafia A. Pasha and Vincent Gatinois and Camille Larrieu-Arguille and Jean-Michel Faure and Olivier Prodhomme and Maxime Colmard and François Rivier and Okubo Yukimune and Charlotte Poe and Isabelle Rouvet and Antonio Vitobello and Christel Thauvin and Gerardo D. Rodriguez-Gomez and Leandra K. Tolusso and Yu Katata and Atsuo Kikuchi and Trevor L. Hoffman and Hans C. Andersson and Engin Deniz and Miao He and Constance F. Wells and Anne-Sophie Denommé-Pichon and Andrew C. Edmondson and Hudson H. Freeze and Christina Lam},
  year = {2026},
  journal = {Human Genetics and Genomics Advances},
  doi = {10.1016/j.xhgg.2026.100650},
  url = {https://doi.org/10.1016/j.xhgg.2026.100650}
}

RIS

TY  - JOUR
TI  - ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy
AU  - Jonathan Marquez
AU  - Flavien Rouxel
AU  - Fatima E. It
AU  - Victor Couturier
AU  - Laurence Duplomb
AU  - Valentin Bourgeois
AU  - Anne-Sophie Briffaut
AU  - Ange-Line Bruel
AU  - Martin Chevarin
AU  - Benjamin Ganne
AU  - Bobby G. Ng
AU  - Stephen Viviano
AU  - Mara P.N. Hektor
AU  - Rafia A. Pasha
AU  - Vincent Gatinois
AU  - Camille Larrieu-Arguille
AU  - Jean-Michel Faure
AU  - Olivier Prodhomme
AU  - Maxime Colmard
AU  - François Rivier
AU  - Okubo Yukimune
AU  - Charlotte Poe
AU  - Isabelle Rouvet
AU  - Antonio Vitobello
AU  - Christel Thauvin
AU  - Gerardo D. Rodriguez-Gomez
AU  - Leandra K. Tolusso
AU  - Yu Katata
AU  - Atsuo Kikuchi
AU  - Trevor L. Hoffman
AU  - Hans C. Andersson
AU  - Engin Deniz
AU  - Miao He
AU  - Constance F. Wells
AU  - Anne-Sophie Denommé-Pichon
AU  - Andrew C. Edmondson
AU  - Hudson H. Freeze
AU  - Christina Lam
PY  - 2026
JO  - Human Genetics and Genomics Advances
DO  - 10.1016/j.xhgg.2026.100650
UR  - https://doi.org/10.1016/j.xhgg.2026.100650
ER  -

APA

Marquez, J., Rouxel, F., It, F. E., Couturier, V., Duplomb, L., Bourgeois, V., Briffaut, A., Bruel, A., Chevarin, M., Ganne, B., Ng, B. G., Viviano, S., Hektor, M. P., Pasha, R. A., Gatinois, V., Larrieu-Arguille, C., Faure, J., Prodhomme, O., Colmard, M., Rivier, F., Yukimune, O., Poe, C., Rouvet, I., Vitobello, A., Thauvin, C., Rodriguez-Gomez, G. D., Tolusso, L. K., Katata, Y., Kikuchi, A., Hoffman, T. L., Andersson, H. C., Deniz, E., He, M., Wells, C. F., Denommé-Pichon, A., Edmondson, A. C., Freeze, H. H., & Lam, C. (2026). ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy. Human Genetics and Genomics Advances. https://doi.org/10.1016/j.xhgg.2026.100650

Source records

crossref · retrieved 2026-09-27T03:14:47.641Z