Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.

Ng BG, Eklund EA, Rosenfeld JA, Elias AF, Abu-El-Haija A, Bris C, Barth M, Chae JH, Choi M, Dubbs HA, Fratter C, Foulds N, Gamble C, Gavrilova RH, Haven J, Hoffman TL, Hunter JV, Larson A, Lotze TE, Magoulas P, Magness EC, Bootin DM, Marsh ED, Nesbitt V, Pastore MT, Poulton J, Rahman S, Scaglia F, Murali C, Posey J, Rotenberg J, Schmalz B, Shinde DN, Powis Z, Sukenik-Halevy R, Truxal KV, Uster T, Machado Bressan Wilke MV, Klee E, Woo H, Younkin D, Zhao J, Granadillo J, Lalani S, Chitayat D, Chung WK, Freeze HH, Okur V

Open source

DOI
10.1016/j.gimo.2025.103425
Published
2025
Container
Genetics in medicine open
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.gimo.2025.103425,
  title = {Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.},
  author = {Ng BG and Eklund EA and Rosenfeld JA and Elias AF and Abu-El-Haija A and Bris C and Barth M and Chae JH and Choi M and Dubbs HA and Fratter C and Foulds N and Gamble C and Gavrilova RH and Haven J and Hoffman TL and Hunter JV and Larson A and Lotze TE and Magoulas P and Magness EC and Bootin DM and Marsh ED and Nesbitt V and Pastore MT and Poulton J and Rahman S and Scaglia F and Murali C and Posey J and Rotenberg J and Schmalz B and Shinde DN and Powis Z and Sukenik-Halevy R and Truxal KV and Uster T and Machado Bressan Wilke MV and Klee E and Woo H and Younkin D and Zhao J and Granadillo J and Lalani S and Chitayat D and Chung WK and Freeze HH and Okur V},
  year = {2025},
  journal = {Genetics in medicine open},
  doi = {10.1016/j.gimo.2025.103425},
  url = {https://doi.org/10.1016/j.gimo.2025.103425}
}

RIS

TY  - JOUR
TI  - Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
AU  - Ng BG
AU  - Eklund EA
AU  - Rosenfeld JA
AU  - Elias AF
AU  - Abu-El-Haija A
AU  - Bris C
AU  - Barth M
AU  - Chae JH
AU  - Choi M
AU  - Dubbs HA
AU  - Fratter C
AU  - Foulds N
AU  - Gamble C
AU  - Gavrilova RH
AU  - Haven J
AU  - Hoffman TL
AU  - Hunter JV
AU  - Larson A
AU  - Lotze TE
AU  - Magoulas P
AU  - Magness EC
AU  - Bootin DM
AU  - Marsh ED
AU  - Nesbitt V
AU  - Pastore MT
AU  - Poulton J
AU  - Rahman S
AU  - Scaglia F
AU  - Murali C
AU  - Posey J
AU  - Rotenberg J
AU  - Schmalz B
AU  - Shinde DN
AU  - Powis Z
AU  - Sukenik-Halevy R
AU  - Truxal KV
AU  - Uster T
AU  - Machado Bressan Wilke MV
AU  - Klee E
AU  - Woo H
AU  - Younkin D
AU  - Zhao J
AU  - Granadillo J
AU  - Lalani S
AU  - Chitayat D
AU  - Chung WK
AU  - Freeze HH
AU  - Okur V
PY  - 2025
JO  - Genetics in medicine open
DO  - 10.1016/j.gimo.2025.103425
UR  - https://doi.org/10.1016/j.gimo.2025.103425
ER  -

APA

BG, N., EA, E., JA, R., AF, E., A, A., C, B., M, B., JH, C., M, C., HA, D., C, F., N, F., C, G., RH, G., J, H., TL, H., JV, H., A, L., TE, L., P, M., EC, M., DM, B., ED, M., V, N., MT, P., J, P., S, R., F, S., C, M., J, P., J, R., B, S., DN, S., Z, P., R, S., KV, T., T, U., MV, M. B. W., E, K., H, W., D, Y., J, Z., J, G., S, L., D, C., WK, C., HH, F., & V, O. (2025). Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.. Genetics in medicine open. https://doi.org/10.1016/j.gimo.2025.103425

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