Reference table (All references)



References
Year
PubMed Id
Yahia, A., Elsayed, L. E. O., Valter, R., Hamed, A. A. A., Mohammed, I. N., Elseed, M. A., Salih, M. A., Esteves, T., Auger, N., Abubaker, R., Koko, M., Abozar, F., and 17 others. Pathogenic variants in ABHD16A cause a novel psychomotor developmental disorder with spastic paraplegia. Front. Neurol. 12: 720201, 2021.[PubMed: 34489854,
2021
Yang, A. C., Ng, B. G., Moore, S. A., Rush, J., Waechter, C. J., Raymond, K. M., Willer, T., Campbell, K. P., Freeze, H. H., Mehta, L. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Molec. Genet. Metab. 110: 345-351, 2013.
2013
Yang, Y., Liu, W., Fang, Z., Shi, J., Che, F., He, C., Yao, L., Wang, E., Wu, Y. A newly identified missense mutation in FARS2 causes autosomal-recessive spastic paraplegia. Hum. Mutat. 37: 165-169, 2016.
2016
Yang, Y., Yang, Y., Liang, B., Liu, J., Li, J., Grunnet, M., Olesen, S.-P., Rasmussen, H. B., Ellinor, P. T., Gao, L., Lin, X., Li, L., and 9 others. Identification of a Kir3.4 mutation in congenital long QT syndrome. Am. J. Hum. Genet. 86: 872-880, 2010.
2010
Yang, Y.; Li, J.; Lin, X.; Yang, Y.; Hong, K.; Wang, L.; Liu, J.; Li, L.; Yan, D.; Liang, D.; Xiao, J.; Jin, H.; Wu, J.; Zhang, Y.; Chen, Y.-H. Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. J. Hum. Genet. 54: 277-283, 2009.
2009
Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4.
2013
Ylikallio, E., Kim, D., Isohanni, P., Auranen, M., Kim, E., Lonnqvist, T., Tyynismaa, H. Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. Europ. J. Hum. Genet. 23: 1427-1430, 2015. [PubMed: 25585697,
2015
Ylikallio, E., Woldegebriel, R., Tumiati, M., Isohanni, P., Ryan, M. M., Stark, Z., Walsh, M., Sawyer, S. L., Bell, K. M., Oshlack, A., Lockhart, P. J., Shcherbii, M., and 17 others. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain 140: 2093-2103, 2017.
2017
Yogev, Y., Shorer, Z., Koifman, A., Wormser, O., Drabkin, M., Halperin, D., Dolgin, V., Proskorovski-Ohayon, R., Hadar, N., Davidov, G., Nudelman, H., Zarivach, R., Shelef, I., Perez, Y., Birk, O. S. Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Proc. Nat.
2023
Yoo D.H., Choi Y.C., Nam D.E., Choi S.S., Kim J.W., Choi B.O., et al. Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome. Mitochondrion. 2017 Jul;35:54-58. doi: 10.1016/j.mito.2017.05.005. Epub 2017 May 9.
2017
Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev. Cell 1: 717-724, 2001.
2001
Young K, Foroud T, Williams P, Jackson CE, Beckmann JS, Cohen D, Conneally PM, Tischfield J, Hodes ME. Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. Genomics. 1992 Aug;13(4):1370-1.
1992
Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J. The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4. Am J Hum Genet. 2022 Mar 3;109(3):533-541. doi: 10.1016/j.ajhg.2022.01.012. Epub 2022 Feb 10. PMID: 35148830; PMCID: PMC8948162
2022
Yu, G.-Y.; Howell, M. J.; Roller, M. J.; Xie, T.-D.; Gomez, C. M. : Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann. Neurol. 57: 349-354, 2005.
2005
Yuan, J., Matsuura, E., Higuchi, Y., Hashiguchi, A., Nakamura, T., Nozuma, S., Sakiyama, Y., Yoshimura, A., Izumo, S., Takashima, H. Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. Neurology 80: 1641-1649, 2013.
2013
Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J. Clin. Invest. 124: 4693-4708, 2014.
2014