The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Brooker SM, Novelli M, Coukos R, Prakash N, Kamel WA, Amengual-Gual M, Anheim M, Barcia G, Bardakjian T, Baur F, Berweck S, Bölsterli BK, Brugger M, Cassini T, Chatron N, Corner B, Dafsari HS, de Sainte Agathe JM, Ellis CA, Ezell KM, Foucard C, Frucht SJ, Garcia MC, Gill D, Guimier A, Hamid R, Heine-Suñer D, Herkenrath P, Hully M, Isaias IU, Januel L, Laurencin C, Laut T, Lavillaureix A, Lesca G, Lesieur-Sebellin M, Magistrelli L, Marelli C, Mefford HC, Mendelsohn BA, Mercimek-Andrews S, Miller C, Mohammad SS, Morgante F, Nandipati S, Opladen T, Padmanaban M, Pauni M, Pezzoli G, Piton A, Ramond F, Riboldi GM, Rougeot-Jung C, Santos-Simarro F, Scheffer IE, Serari N, Stahl CM, Kung AS, Tarongí Sanchez S, Thauvin-Robinet C, Till M, Tranchant C, Troedson C, Tropea TF, Vanakker O, Vega P, Wiese ML, Wieshmann U, Williams LJ, Wirth T, Zech M, Zempel H, Roze E, Leuzzi V, Galosi S, Fung VSC, Carvill G, Krainc D, Gerard E, Mencacci NE

Open source

DOI: 10.1002/ana.27272
Published: 2025 Sep
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.27272,
  title = {The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.},
  author = {Brooker SM and Novelli M and Coukos R and Prakash N and Kamel WA and Amengual-Gual M and Anheim M and Barcia G and Bardakjian T and Baur F and Berweck S and Bölsterli BK and Brugger M and Cassini T and Chatron N and Corner B and Dafsari HS and de Sainte Agathe JM and Ellis CA and Ezell KM and Foucard C and Frucht SJ and Garcia MC and Gill D and Guimier A and Hamid R and Heine-Suñer D and Herkenrath P and Hully M and Isaias IU and Januel L and Laurencin C and Laut T and Lavillaureix A and Lesca G and Lesieur-Sebellin M and Magistrelli L and Marelli C and Mefford HC and Mendelsohn BA and Mercimek-Andrews S and Miller C and Mohammad SS and Morgante F and Nandipati S and Opladen T and Padmanaban M and Pauni M and Pezzoli G and Piton A and Ramond F and Riboldi GM and Rougeot-Jung C and Santos-Simarro F and Scheffer IE and Serari N and Stahl CM and Kung AS and Tarongí Sanchez S and Thauvin-Robinet C and Till M and Tranchant C and Troedson C and Tropea TF and Vanakker O and Vega P and Wiese ML and Wieshmann U and Williams LJ and Wirth T and Zech M and Zempel H and Roze E and Leuzzi V and Galosi S and Fung VSC and Carvill G and Krainc D and Gerard E and Mencacci NE},
  year = {2025},
  journal = {Annals of neurology},
  doi = {10.1002/ana.27272},
  url = {https://doi.org/10.1002/ana.27272}
}

RIS

TY  - JOUR
TI  - The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
AU  - Brooker SM
AU  - Novelli M
AU  - Coukos R
AU  - Prakash N
AU  - Kamel WA
AU  - Amengual-Gual M
AU  - Anheim M
AU  - Barcia G
AU  - Bardakjian T
AU  - Baur F
AU  - Berweck S
AU  - Bölsterli BK
AU  - Brugger M
AU  - Cassini T
AU  - Chatron N
AU  - Corner B
AU  - Dafsari HS
AU  - de Sainte Agathe JM
AU  - Ellis CA
AU  - Ezell KM
AU  - Foucard C
AU  - Frucht SJ
AU  - Garcia MC
AU  - Gill D
AU  - Guimier A
AU  - Hamid R
AU  - Heine-Suñer D
AU  - Herkenrath P
AU  - Hully M
AU  - Isaias IU
AU  - Januel L
AU  - Laurencin C
AU  - Laut T
AU  - Lavillaureix A
AU  - Lesca G
AU  - Lesieur-Sebellin M
AU  - Magistrelli L
AU  - Marelli C
AU  - Mefford HC
AU  - Mendelsohn BA
AU  - Mercimek-Andrews S
AU  - Miller C
AU  - Mohammad SS
AU  - Morgante F
AU  - Nandipati S
AU  - Opladen T
AU  - Padmanaban M
AU  - Pauni M
AU  - Pezzoli G
AU  - Piton A
AU  - Ramond F
AU  - Riboldi GM
AU  - Rougeot-Jung C
AU  - Santos-Simarro F
AU  - Scheffer IE
AU  - Serari N
AU  - Stahl CM
AU  - Kung AS
AU  - Tarongí Sanchez S
AU  - Thauvin-Robinet C
AU  - Till M
AU  - Tranchant C
AU  - Troedson C
AU  - Tropea TF
AU  - Vanakker O
AU  - Vega P
AU  - Wiese ML
AU  - Wieshmann U
AU  - Williams LJ
AU  - Wirth T
AU  - Zech M
AU  - Zempel H
AU  - Roze E
AU  - Leuzzi V
AU  - Galosi S
AU  - Fung VSC
AU  - Carvill G
AU  - Krainc D
AU  - Gerard E
AU  - Mencacci NE
PY  - 2025
JO  - Annals of neurology
DO  - 10.1002/ana.27272
UR  - https://doi.org/10.1002/ana.27272
ER  -

APA

SM, B., M, N., R, C., N, P., WA, K., M, A., M, A., G, B., T, B., F, B., S, B., BK, B., M, B., T, C., N, C., B, C., HS, D., JM, D. S. A., CA, E., KM, E., C, F., SJ, F., MC, G., D, G., A, G., R, H., D, H., P, H., M, H., IU, I., L, J., C, L., T, L., A, L., G, L., M, L., L, M., C, M., HC, M., BA, M., S, M., C, M., SS, M., F, M., S, N., T, O., M, P., M, P., G, P., A, P., F, R., GM, R., C, R., F, S., IE, S., N, S., CM, S., AS, K., S, T. S., C, T., M, T., C, T., C, T., TF, T., O, V., P, V., ML, W., U, W., LJ, W., T, W., M, Z., H, Z., E, R., V, L., S, G., VSC, F., G, C., D, K., E, G., & NE, M. (2025). The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.. Annals of neurology. https://doi.org/10.1002/ana.27272

Source records

pubmed · retrieved 2026-09-25T16:28:22.777Z