An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ

Open source

DOI: 10.1016/j.ajhg.2022.11.015
Published: 2023 Jan 5
Container: American journal of human genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2022.11.015,
  title = {An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.},
  author = {Rafehi H and Read J and Szmulewicz DJ and Davies KC and Snell P and Fearnley LG and Scott L and Thomsen M and Gillies G and Pope K and Bennett MF and Munro JE and Ngo KJ and Chen L and Wallis MJ and Butler EG and Kumar KR and Wu KH and Tomlinson SE and Tisch S and Malhotra A and Lee-Archer M and Dolzhenko E and Eberle MA and Roberts LJ and Fogel BL and Brüggemann N and Lohmann K and Delatycki MB and Bahlo M and Lockhart PJ},
  year = {2023},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2022.11.015},
  url = {https://doi.org/10.1016/j.ajhg.2022.11.015}
}

RIS

TY  - JOUR
TI  - An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
AU  - Rafehi H
AU  - Read J
AU  - Szmulewicz DJ
AU  - Davies KC
AU  - Snell P
AU  - Fearnley LG
AU  - Scott L
AU  - Thomsen M
AU  - Gillies G
AU  - Pope K
AU  - Bennett MF
AU  - Munro JE
AU  - Ngo KJ
AU  - Chen L
AU  - Wallis MJ
AU  - Butler EG
AU  - Kumar KR
AU  - Wu KH
AU  - Tomlinson SE
AU  - Tisch S
AU  - Malhotra A
AU  - Lee-Archer M
AU  - Dolzhenko E
AU  - Eberle MA
AU  - Roberts LJ
AU  - Fogel BL
AU  - Brüggemann N
AU  - Lohmann K
AU  - Delatycki MB
AU  - Bahlo M
AU  - Lockhart PJ
PY  - 2023
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2022.11.015
UR  - https://doi.org/10.1016/j.ajhg.2022.11.015
ER  -

APA

H, R., J, R., DJ, S., KC, D., P, S., LG, F., L, S., M, T., G, G., K, P., MF, B., JE, M., KJ, N., L, C., MJ, W., EG, B., KR, K., KH, W., SE, T., S, T., A, M., M, L., E, D., MA, E., LJ, R., BL, F., N, B., K, L., MB, D., M, B., & PJ, L. (2023). An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2022.11.015

Source records

pubmed · retrieved 2026-09-25T13:58:58.878Z