GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M

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DOI: 10.1016/j.ebiom.2024.105076
Published: 2024 Apr
Container: EBioMedicine
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ebiom.2024.105076,
  title = {GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.},
  author = {Pellerin D and Heindl F and Wilke C and Danzi MC and Traschütz A and Ashton C and Dicaire MJ and Cuillerier A and Del Gobbo G and Boycott KM and Claassen J and Rujescu D and Hartmann AM and Zuchner S and Brais B and Strupp M and Synofzik M},
  year = {2024},
  journal = {EBioMedicine},
  doi = {10.1016/j.ebiom.2024.105076},
  url = {https://doi.org/10.1016/j.ebiom.2024.105076}
}

RIS

TY  - JOUR
TI  - GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
AU  - Pellerin D
AU  - Heindl F
AU  - Wilke C
AU  - Danzi MC
AU  - Traschütz A
AU  - Ashton C
AU  - Dicaire MJ
AU  - Cuillerier A
AU  - Del Gobbo G
AU  - Boycott KM
AU  - Claassen J
AU  - Rujescu D
AU  - Hartmann AM
AU  - Zuchner S
AU  - Brais B
AU  - Strupp M
AU  - Synofzik M
PY  - 2024
JO  - EBioMedicine
DO  - 10.1016/j.ebiom.2024.105076
UR  - https://doi.org/10.1016/j.ebiom.2024.105076
ER  -

APA

D, P., F, H., C, W., MC, D., A, T., C, A., MJ, D., A, C., G, D. G., KM, B., J, C., D, R., AM, H., S, Z., B, B., M, S., & M, S. (2024). GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.. EBioMedicine. https://doi.org/10.1016/j.ebiom.2024.105076

Source records

pubmed · retrieved 2026-09-27T07:49:08.360Z
europe-pmc · retrieved 2026-09-27T07:49:08.362Z
doaj · retrieved 2026-09-27T07:49:08.369Z