Mutations in <em>PTPN11 </em>could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
- DOI
- 10.25405/ncl.34487088.v1
- Published
- 2026
- Container
- Not recorded
- Publisher
- Newcastle University
- Open access
- no
Credibility signals
limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- supportingPublication license: A publication license was supplied: https://rightsstatements.org/page/InC/1.0/?language=en. Presence improves reuse transparency, not research validity.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Cite this work
BibTeX
@article{allodium:10.25405/ncl.34487088.v1,
title = {Mutations in <em>PTPN11 </em>could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series},
author = {Alessia Pugliese and Adela Della Marina and Eduardo de Paula Estephan and Edmar Zanoteli and Andreas Roos and Ulrike Schara-Schmidt and Andreas Hentschel and Yoshiteru Azuma and Ana Topf and Rachel Thompson and Kiran Polavarapu and Hanns Lochmüller},
year = {2026},
doi = {10.25405/ncl.34487088.v1},
url = {https://doi.org/10.25405/ncl.34487088.v1}
}RIS
TY - JOUR TI - Mutations in <em>PTPN11 </em>could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series AU - Alessia Pugliese AU - Adela Della Marina AU - Eduardo de Paula Estephan AU - Edmar Zanoteli AU - Andreas Roos AU - Ulrike Schara-Schmidt AU - Andreas Hentschel AU - Yoshiteru Azuma AU - Ana Topf AU - Rachel Thompson AU - Kiran Polavarapu AU - Hanns Lochmüller PY - 2026 DO - 10.25405/ncl.34487088.v1 UR - https://doi.org/10.25405/ncl.34487088.v1 ER -
APA
Pugliese, A., Marina, A. D., Estephan, E. D. P., Zanoteli, E., Roos, A., Schara-Schmidt, U., Hentschel, A., Azuma, Y., Topf, A., Thompson, R., Polavarapu, K., & Lochmüller, H. (2026). Mutations in <em>PTPN11 </em>could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. https://doi.org/10.25405/ncl.34487088.v1
Source records
- datacite · retrieved 2026-11-09T10:24:15.066Z