Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX.

Fiorini AC, Scorza CA, Scorza FA, Finsterer J

DOI: 10.1016/j.clinsp.2026.101146
Published: 2026 Sep 8
Container: Clinics (Sao Paulo, Brazil)
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.clinsp.2026.101146,
  title = {Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX.},
  author = {Fiorini AC and Scorza CA and Scorza FA and Finsterer J},
  year = {2026},
  journal = {Clinics (Sao Paulo, Brazil)},
  doi = {10.1016/j.clinsp.2026.101146},
  url = {https://doi.org/10.1016/j.clinsp.2026.101146}
}

RIS

TY  - JOUR
TI  - Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX.
AU  - Fiorini AC
AU  - Scorza CA
AU  - Scorza FA
AU  - Finsterer J
PY  - 2026
JO  - Clinics (Sao Paulo, Brazil)
DO  - 10.1016/j.clinsp.2026.101146
UR  - https://doi.org/10.1016/j.clinsp.2026.101146
ER  -

APA

AC, F., CA, S., FA, S., & J, F. (2026). Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX.. Clinics (Sao Paulo, Brazil). https://doi.org/10.1016/j.clinsp.2026.101146

Source records

pubmed · retrieved 2026-09-25T16:37:16.445Z