Adult-onset spastic paraplegia associated with a novel SPTBN2 missense heterozygous variant
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s13760-024-02543-8.pdf
Reference5 articles.
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3. Sancho P, Andrés-Bordería A, Gorría-Redondo N, Llano K, Martínez-Rubio D, Yoldi-Petri ME, Blumkin L (2021) Expanding the β-III spectrin-associated phenotypes toward non-progressive congenital ataxias with neurodegeneration. Int J Mol Sci 22(5):2505
4. Machnicka B, Czogalla A, Hryniewicz-Jankowska A, Bogusławska DM, Grochowalska R, Heger E, Sikorski AF (2014) Spectrins: a structural platform for stabilization and activation of membrane channels, receptors and transporters. Biochim Biophys Acta 1838(2):620–634. https://doi.org/10.1016/j.bbamem.2013.05.002
5. Goodman SR, Johnson D, Youngentob SL, Kakhniashvili D (2019) The spectrinome: the interactome of a scaffold protein creating nuclear and cytoplasmic connectivity and function. Exp Biol Med (Maywood) 244(15):1273–1302
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