EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Laugwitz L, Buchert R, Olguín P, Estiar MA, Atanasova M, Jr WM, Enssle J, Marsden B, Avilés J, González-Gutiérrez A, Candia N, Fabiano M, Morlot S, Peralta S, Groh A, Schillinger C, Kuehn C, Sofan L, Sturm M, Bender B, Tomaselli PJ, Diebold U, Mueller AJ, Spranger S, Fuchs M, Freua F, Melo US, Mattas L, Ashtiani S, Suchowersky O, Groeschel S, Rouleau GA, Yosovich K, Michelson M, Leibovitz Z, Bilal M, Uctepe E, Yesilyurt A, Ozdogan O, Celik T, Krägeloh-Mann I, Riess O, Rosewich H, Umair M, Lev D, Zuchner S, Schweizer U, Lynch DS, Gan-Or Z, Haack TB

Open source

DOI
10.1016/j.ajhg.2024.12.001
Published
2025 Jan 2
Container
American journal of human genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.ajhg.2024.12.001,
  title = {EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.},
  author = {Laugwitz L and Buchert R and Olguín P and Estiar MA and Atanasova M and Jr WM and Enssle J and Marsden B and Avilés J and González-Gutiérrez A and Candia N and Fabiano M and Morlot S and Peralta S and Groh A and Schillinger C and Kuehn C and Sofan L and Sturm M and Bender B and Tomaselli PJ and Diebold U and Mueller AJ and Spranger S and Fuchs M and Freua F and Melo US and Mattas L and Ashtiani S and Suchowersky O and Groeschel S and Rouleau GA and Yosovich K and Michelson M and Leibovitz Z and Bilal M and Uctepe E and Yesilyurt A and Ozdogan O and Celik T and Krägeloh-Mann I and Riess O and Rosewich H and Umair M and Lev D and Zuchner S and Schweizer U and Lynch DS and Gan-Or Z and Haack TB},
  year = {2025},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2024.12.001},
  url = {https://doi.org/10.1016/j.ajhg.2024.12.001}
}

RIS

TY  - JOUR
TI  - EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
AU  - Laugwitz L
AU  - Buchert R
AU  - Olguín P
AU  - Estiar MA
AU  - Atanasova M
AU  - Jr WM
AU  - Enssle J
AU  - Marsden B
AU  - Avilés J
AU  - González-Gutiérrez A
AU  - Candia N
AU  - Fabiano M
AU  - Morlot S
AU  - Peralta S
AU  - Groh A
AU  - Schillinger C
AU  - Kuehn C
AU  - Sofan L
AU  - Sturm M
AU  - Bender B
AU  - Tomaselli PJ
AU  - Diebold U
AU  - Mueller AJ
AU  - Spranger S
AU  - Fuchs M
AU  - Freua F
AU  - Melo US
AU  - Mattas L
AU  - Ashtiani S
AU  - Suchowersky O
AU  - Groeschel S
AU  - Rouleau GA
AU  - Yosovich K
AU  - Michelson M
AU  - Leibovitz Z
AU  - Bilal M
AU  - Uctepe E
AU  - Yesilyurt A
AU  - Ozdogan O
AU  - Celik T
AU  - Krägeloh-Mann I
AU  - Riess O
AU  - Rosewich H
AU  - Umair M
AU  - Lev D
AU  - Zuchner S
AU  - Schweizer U
AU  - Lynch DS
AU  - Gan-Or Z
AU  - Haack TB
PY  - 2025
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2024.12.001
UR  - https://doi.org/10.1016/j.ajhg.2024.12.001
ER  -

APA

L, L., R, B., P, O., MA, E., M, A., WM, J., J, E., B, M., J, A., A, G., N, C., M, F., S, M., S, P., A, G., C, S., C, K., L, S., M, S., B, B., PJ, T., U, D., AJ, M., S, S., M, F., F, F., US, M., L, M., S, A., O, S., S, G., GA, R., K, Y., M, M., Z, L., M, B., E, U., A, Y., O, O., T, C., I, K., O, R., H, R., M, U., D, L., S, Z., U, S., DS, L., Z, G., & TB, H. (2025). EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2024.12.001

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