Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, Smirnov D, Navaratnarajah T, Rodenburg RJT, Pais LS, Austin-Tse C, O'Leary M, Boesch S, Jech R, Bakhtiari S, Jin SC, Wilbert F, Kruer MC, Wortmann SB, Eckenweiler M, Mayr JA, Distelmaier F, Steinfeld R, Winkelmann J, Prokisch H

Open source

DOI: 10.1002/ana.26293
Published: 2022 Feb
Container: Annals of 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:10.1002/ana.26293,
  title = {Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.},
  author = {Zech M and Kopajtich R and Steinbrücker K and Bris C and Gueguen N and Feichtinger RG and Achleitner MT and Duzkale N and Périvier M and Koch J and Engelhardt H and Freisinger P and Wagner M and Brunet T and Berutti R and Smirnov D and Navaratnarajah T and Rodenburg RJT and Pais LS and Austin-Tse C and O'Leary M and Boesch S and Jech R and Bakhtiari S and Jin SC and Wilbert F and Kruer MC and Wortmann SB and Eckenweiler M and Mayr JA and Distelmaier F and Steinfeld R and Winkelmann J and Prokisch H},
  year = {2022},
  journal = {Annals of neurology},
  doi = {10.1002/ana.26293},
  url = {https://doi.org/10.1002/ana.26293}
}

RIS

TY  - JOUR
TI  - Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
AU  - Zech M
AU  - Kopajtich R
AU  - Steinbrücker K
AU  - Bris C
AU  - Gueguen N
AU  - Feichtinger RG
AU  - Achleitner MT
AU  - Duzkale N
AU  - Périvier M
AU  - Koch J
AU  - Engelhardt H
AU  - Freisinger P
AU  - Wagner M
AU  - Brunet T
AU  - Berutti R
AU  - Smirnov D
AU  - Navaratnarajah T
AU  - Rodenburg RJT
AU  - Pais LS
AU  - Austin-Tse C
AU  - O'Leary M
AU  - Boesch S
AU  - Jech R
AU  - Bakhtiari S
AU  - Jin SC
AU  - Wilbert F
AU  - Kruer MC
AU  - Wortmann SB
AU  - Eckenweiler M
AU  - Mayr JA
AU  - Distelmaier F
AU  - Steinfeld R
AU  - Winkelmann J
AU  - Prokisch H
PY  - 2022
JO  - Annals of neurology
DO  - 10.1002/ana.26293
UR  - https://doi.org/10.1002/ana.26293
ER  -

APA

M, Z., R, K., K, S., C, B., N, G., RG, F., MT, A., N, D., M, P., J, K., H, E., P, F., M, W., T, B., R, B., D, S., T, N., RJT, R., LS, P., C, A., M, O., S, B., R, J., S, B., SC, J., F, W., MC, K., SB, W., M, E., JA, M., F, D., R, S., J, W., & H, P. (2022). Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.. Annals of neurology. https://doi.org/10.1002/ana.26293

Source records

pubmed · retrieved 2026-09-27T00:40:29.923Z