Chen, X., Liu, F., Li, B., Wang, Y., Yuan, L., Yin, A., Chen, Q., Hu, W., Yao, Y., Zhang, M., Wu, Y., Chen, K. (2022) Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function. Cell & Bioscience. 12:103
|
Gan-Or, Z., Bouslam, N., Birouk, N., Lissouba, A., Chambers, D.B., Vérièpe, J., Androschuck, A., Laurent, S.B., Rochefort, D., Spiegelman, D., Dionne-Laporte, A., Szuto, A., Liao, M., Figlewicz, D.A., Bouhouche, A., Benomar, A., Yahyaoui, M., Ouazzani, R., Yoon, G., Dupré, N., Suchowersky, O., Bolduc, F.V., Parker, J.A., Dion, P.A., Drapeau, P., Rouleau, G.A., Bencheikh, B.O. (2016) Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. American journal of human genetics. 98:1038-1046
|
Guo, Y., Chen, Y., Yang, M., Xu, X., Lin, Z., Ma, J., Chen, H., Hu, Y., Ma, Y., Wang, X., Tian, X. (2020) A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity. Frontiers in genetics. 11:61
|
Julien, C., Lissouba, A., Madabattula, S., Fardghassemi, Y., Rosenfelt, C., Androschuk, A., Strautman, J., Wong, C., Bysice, A., O'Sullivan, J., Rouleau, G.A., Drapeau, P., Parker, J.A., Bolduc, F.V. (2016) Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms. Human molecular genetics. 25(6):1088-99
|
Lin, X., Su, H.Z., Dong, E.L., Lin, X.H., Zhao, M., Yang, C., Wang, C., Wang, J., Chen, Y.J., Yu, H., Xu, J., Ma, L.X., Xiong, Z.Q., Wang, N., Chen, W.J. (2019) Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia. Brain : a journal of neurology. 142(8):2238-2252
|
Mao, F., Li, Z., Zhao, B., Lin, P., Liu, P., Zhai, M., Liu, Q., Shao, C., Sun, W., Gong, Y. (2015) Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family. Human Mutation. 36(2):240-9
|
Vaz, F.M., McDermott, J.H., Alders, M., Wortmann, S.B., Kölker, S., Pras-Raves, M.L., Vervaart, M.A.T., van Lenthe, H., Luyf, A.C.M., Elfrink, H.L., Metcalfe, K., Cuvertino, S., Clayton, P.E., Yarwood, R., Lowe, M.P., Lovell, S., Rogers, R.C., Deciphering Developmental Disorders Study, van Kampen, A.H.C., Ruiter, J.P.N., Wanders, R.J.A., Ferdinandusse, S., van Weeghel, M., Engelen, M., Banka, S. (2019) Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain : a journal of neurology. 142(11):3382-3397
|
Wagner, M., Osborn, D.P.S., Gehweiler, I., Nagel, M., Ulmer, U., Bakhtiari, S., Amouri, R., Boostani, R., Hentati, F., Hockley, M.M., Hölbling, B., Schwarzmayr, T., Karimiani, E.G., Kernstock, C., Maroofian, R., Müller-Felber, W., Ozkan, E., Padilla-Lopez, S., Reich, S., Reichbauer, J., Darvish, H., Shahmohammadibeni, N., Tafakhori, A., Vill, K., Zuchner, S., Kruer, M.C., Winkelmann, J., Jamshidi, Y., Schüle, R. (2019) Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nature communications. 10:4790
|