Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.

Varesio C, Politano D, Adang L, Ballante E, Battini R, Bertini E, Borgatti R, De Giorgis V, Del Boca A, Dragoni F, Fazzi E, Galli J, Garau J, Gavazzi F, Gardani A, La Piana R, Moroni I, Nicita F, Pichiecchio A, Pini A, Ricci F, Sartori S, Tonduti D, Vanderver A, Orcesi S

Open source

DOI: 10.1016/j.pediatrneurol.2025.07.011
Published: 2025 Oct
Container: Pediatric neurology
Publisher: Not recorded
Open access: yes

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. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
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. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1016/j.pediatrneurol.2025.07.011,
  title = {Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.},
  author = {Varesio C and Politano D and Adang L and Ballante E and Battini R and Bertini E and Borgatti R and De Giorgis V and Del Boca A and Dragoni F and Fazzi E and Galli J and Garau J and Gavazzi F and Gardani A and La Piana R and Moroni I and Nicita F and Pichiecchio A and Pini A and Ricci F and Sartori S and Tonduti D and Vanderver A and Orcesi S},
  year = {2025},
  journal = {Pediatric neurology},
  doi = {10.1016/j.pediatrneurol.2025.07.011},
  url = {https://doi.org/10.1016/j.pediatrneurol.2025.07.011}
}

RIS

TY  - JOUR
TI  - Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.
AU  - Varesio C
AU  - Politano D
AU  - Adang L
AU  - Ballante E
AU  - Battini R
AU  - Bertini E
AU  - Borgatti R
AU  - De Giorgis V
AU  - Del Boca A
AU  - Dragoni F
AU  - Fazzi E
AU  - Galli J
AU  - Garau J
AU  - Gavazzi F
AU  - Gardani A
AU  - La Piana R
AU  - Moroni I
AU  - Nicita F
AU  - Pichiecchio A
AU  - Pini A
AU  - Ricci F
AU  - Sartori S
AU  - Tonduti D
AU  - Vanderver A
AU  - Orcesi S
PY  - 2025
JO  - Pediatric neurology
DO  - 10.1016/j.pediatrneurol.2025.07.011
UR  - https://doi.org/10.1016/j.pediatrneurol.2025.07.011
ER  -

APA

C, V., D, P., L, A., E, B., R, B., E, B., R, B., V, D. G., A, D. B., F, D., E, F., J, G., J, G., F, G., A, G., R, L. P., I, M., F, N., A, P., A, P., F, R., S, S., D, T., A, V., & S, O. (2025). Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.. Pediatric neurology. https://doi.org/10.1016/j.pediatrneurol.2025.07.011

Source records

pubmed · retrieved 2026-09-26T23:38:36.298Z
europe-pmc · retrieved 2026-09-26T23:38:36.309Z