Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders

Laura E. MacMullen, Katelynn D. Stanley, John Christodoulou, Bruce H. Cohen, Matthew Demczko, Amy C. Goldstein, Richard Haas, Mary Kay Koenig, Maria Poblete, Alyssa Rice, Ian Rossman, Carolina Ruiz, S. Nicholas Russo, David R. Thorburn, Eloise Uebergang, Jennifer H. Yang, Zarazuela Zolkipli-Cunningham, Marni J. Falk, Unknown

Open source

DOI: 10.1177/26330040261476231
Published: 2026-08
Container: Therapeutic Advances in Rare Disease
Publisher: SAGE Publications
Open access: unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. 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
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
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
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1177/26330040261476231,
  title = {Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders},
  author = {Laura E. MacMullen and Katelynn D. Stanley and John Christodoulou and Bruce H. Cohen and Matthew Demczko and Amy C. Goldstein and Richard Haas and Mary Kay Koenig and Maria Poblete and Alyssa Rice and Ian Rossman and Carolina Ruiz and S. Nicholas Russo and David R. Thorburn and Eloise Uebergang and Jennifer H. Yang and Zarazuela Zolkipli-Cunningham and Marni J. Falk and Unknown},
  year = {2026},
  journal = {Therapeutic Advances in Rare Disease},
  doi = {10.1177/26330040261476231},
  url = {https://doi.org/10.1177/26330040261476231}
}

RIS

TY  - JOUR
TI  - Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders
AU  - Laura E. MacMullen
AU  - Katelynn D. Stanley
AU  - John Christodoulou
AU  - Bruce H. Cohen
AU  - Matthew Demczko
AU  - Amy C. Goldstein
AU  - Richard Haas
AU  - Mary Kay Koenig
AU  - Maria Poblete
AU  - Alyssa Rice
AU  - Ian Rossman
AU  - Carolina Ruiz
AU  - S. Nicholas Russo
AU  - David R. Thorburn
AU  - Eloise Uebergang
AU  - Jennifer H. Yang
AU  - Zarazuela Zolkipli-Cunningham
AU  - Marni J. Falk
AU  - Unknown
PY  - 2026
JO  - Therapeutic Advances in Rare Disease
DO  - 10.1177/26330040261476231
UR  - https://doi.org/10.1177/26330040261476231
ER  -

APA

MacMullen, L. E., Stanley, K. D., Christodoulou, J., Cohen, B. H., Demczko, M., Goldstein, A. C., Haas, R., Koenig, M. K., Poblete, M., Rice, A., Rossman, I., Ruiz, C., Russo, S. N., Thorburn, D. R., Uebergang, E., Yang, J. H., Zolkipli-Cunningham, Z., Falk, M. J., & Unknown (2026). Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders. Therapeutic Advances in Rare Disease. https://doi.org/10.1177/26330040261476231

Source records

crossref · retrieved 2026-11-10T11:08:47.207Z