The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.

Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA, Vanderver AL

Open source

DOI
10.1016/j.ymgme.2025.109048
Published
2025 Mar
Container
Molecular genetics and metabolism
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.ymgme.2025.109048,
  title = {The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.},
  author = {Gavazzi F and Charsar B and Hamilton E and Erler JA and Patel V and Woidill S and Sevagamoorthy A and Helman G and Schmidt J and Pizzino A and Muirhead K and Takanohashi A and Bonkowsky JL and Meyerhoffer K and Simons C and Doi H and Satoko M and Matsumoto N and Delgado MR and Sanchez-Castillo M and Wang J and de Carvalho DR and Tournev I and Chamova T and Jordanova A and Clegg NJ and Nicita F and Bertini E and Teng M and Williams D and Tonduti D and Houlden H and Stellingwerff M and Wassmer E and Garcia-Cazorla A and Bernard G and Mirchi A and Toutounchi H and Wolf NI and van der Knaap MS and Shults J and Adang LA and Vanderver AL},
  year = {2025},
  journal = {Molecular genetics and metabolism},
  doi = {10.1016/j.ymgme.2025.109048},
  url = {https://doi.org/10.1016/j.ymgme.2025.109048}
}

RIS

TY  - JOUR
TI  - The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
AU  - Gavazzi F
AU  - Charsar B
AU  - Hamilton E
AU  - Erler JA
AU  - Patel V
AU  - Woidill S
AU  - Sevagamoorthy A
AU  - Helman G
AU  - Schmidt J
AU  - Pizzino A
AU  - Muirhead K
AU  - Takanohashi A
AU  - Bonkowsky JL
AU  - Meyerhoffer K
AU  - Simons C
AU  - Doi H
AU  - Satoko M
AU  - Matsumoto N
AU  - Delgado MR
AU  - Sanchez-Castillo M
AU  - Wang J
AU  - de Carvalho DR
AU  - Tournev I
AU  - Chamova T
AU  - Jordanova A
AU  - Clegg NJ
AU  - Nicita F
AU  - Bertini E
AU  - Teng M
AU  - Williams D
AU  - Tonduti D
AU  - Houlden H
AU  - Stellingwerff M
AU  - Wassmer E
AU  - Garcia-Cazorla A
AU  - Bernard G
AU  - Mirchi A
AU  - Toutounchi H
AU  - Wolf NI
AU  - van der Knaap MS
AU  - Shults J
AU  - Adang LA
AU  - Vanderver AL
PY  - 2025
JO  - Molecular genetics and metabolism
DO  - 10.1016/j.ymgme.2025.109048
UR  - https://doi.org/10.1016/j.ymgme.2025.109048
ER  - 

APA

F, G., B, C., E, H., JA, E., V, P., S, W., A, S., G, H., J, S., A, P., K, M., A, T., JL, B., K, M., C, S., H, D., M, S., N, M., MR, D., M, S., J, W., DR, D. C., I, T., T, C., A, J., NJ, C., F, N., E, B., M, T., D, W., D, T., H, H., M, S., E, W., A, G., G, B., A, M., H, T., NI, W., MS, V. D. K., J, S., LA, A., & AL, V. (2025). The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.. Molecular genetics and metabolism. https://doi.org/10.1016/j.ymgme.2025.109048

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