Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.

Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez C, Martorell L, Estévez-Arias B, Matalonga L, Laurie S, Jou C, Lau J, Thompson R, Shen X, Engel AG, Nascimento A, Lochmüller H, Selcen D

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DOI: 10.1016/j.pediatrneurol.2024.04.027
Published: 2024 Aug
Container: Pediatric neurology
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.pediatrneurol.2024.04.027,
  title = {Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.},
  author = {Natera-de Benito D and Pugliese A and Polavarapu K and Guergueltcheva V and Tournev I and Todorova A and Afonso Ribeiro J and Fernández-Mayoralas DM and Ortez C and Martorell L and Estévez-Arias B and Matalonga L and Laurie S and Jou C and Lau J and Thompson R and Shen X and Engel AG and Nascimento A and Lochmüller H and Selcen D},
  year = {2024},
  journal = {Pediatric neurology},
  doi = {10.1016/j.pediatrneurol.2024.04.027},
  url = {https://doi.org/10.1016/j.pediatrneurol.2024.04.027}
}

RIS

TY  - JOUR
TI  - Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
AU  - Natera-de Benito D
AU  - Pugliese A
AU  - Polavarapu K
AU  - Guergueltcheva V
AU  - Tournev I
AU  - Todorova A
AU  - Afonso Ribeiro J
AU  - Fernández-Mayoralas DM
AU  - Ortez C
AU  - Martorell L
AU  - Estévez-Arias B
AU  - Matalonga L
AU  - Laurie S
AU  - Jou C
AU  - Lau J
AU  - Thompson R
AU  - Shen X
AU  - Engel AG
AU  - Nascimento A
AU  - Lochmüller H
AU  - Selcen D
PY  - 2024
JO  - Pediatric neurology
DO  - 10.1016/j.pediatrneurol.2024.04.027
UR  - https://doi.org/10.1016/j.pediatrneurol.2024.04.027
ER  -

APA

D, N. B., A, P., K, P., V, G., I, T., A, T., J, A. R., DM, F., C, O., L, M., B, E., L, M., S, L., C, J., J, L., R, T., X, S., AG, E., A, N., H, L., & D, S. (2024). Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.. Pediatric neurology. https://doi.org/10.1016/j.pediatrneurol.2024.04.027

Source records

pubmed · retrieved 2026-09-27T00:23:58.199Z