Reference table (All references)



References
Year
PubMed Id
Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289-94. Epub 2005 Jan 30.
2005
Zeharia, A., Shaag, A., Houtkooper, R. H., Hindi, T., de Lonlay, P., Erez, G., Hubert, L., Saada, A., de Keyzer, Y., Eshel, G., Vaz, F. M., Pines, O., Elpeleg, O. Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am. J. Hum. Genet. 83: 489-494, 2008. Note: Erratum: Am. J. Hum. Genet. 84: 95 only, 2009.
2009
Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M and Shanahan CM. Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss Muscular Dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 2007
2007
Zhang Y, Chen HS, Khanna VK, De Leon S, Phillips MS, Schappert K, Britt BA, Browell AK, MacLennan DH. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 1993 Sep;5(1):46-50.
1993
Zhang, J.; Kumar, A.; Kaplan, L.; Fricker, F. J.; Wallace, M. R.Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus. (Letter) J. Med. Genet. 42: 663-665, 2005.
2005
Zhang, X., Chen, S., Yoo, S., Chakrabarti, S., Zhang, T., Ke, T., Oberti, C., Yong, S. L., Fang, F., Li, L., de la Fuente, R., Wang, L., Chen, Q., Wang, Q. K. Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell 135: 1017-1027, 2008.
2008
Zhao Z, Hashiguchi A, Hu J, Sakiyama Y, Okamoto Y, Tokunaga S, Zhu L, Shen H, Takashima H. Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. Neurology. 2012 May 22;78(21):1644-9. Epub 2012 May 9.
2012
Zhao, G., Hu, Z., Shen, L., Jiang, H., Ren, Z., Liu, X., Xia, K., Guo, P., Pan, Q., Tang, B. A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. Chin. Med. J. 121: 430-434, 2008.
2008
Zhou, J., Tawk, M., Tiziano, F. D., Veillet, J., Bayes, M., Nolent, F., Garcia, V., Servidei, S., Bertini, E., Castro-Giner, F., Renda, Y., Carpentier, S., Andrieu-Abadie, N., Gut, I., Levade, T., Topaloglu, H., Melki, J. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am. J. Hum. Genet. 91: 5-14, 2012.
2012
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan;15(1):62-9.
1997
Zimon, M., Baets, J., Almeida-Souza, L., De Vriendt, E., Nikodinovic, J., Parman, Y., Battaloglu, G., Matur, Z., Guergueltcheva, V., Tournev, I., Auer-Grumbach, M., De Rijk, P., and 25 others. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature Genet. 44: 1080-1083, 2012.
2012
Zimprich, A.; Grabowski, M.; Asmus, F.; Naumann, M.; Berg, D.; Bertram, M.; Scheidtmann, K.; Kern, P.; Winkelmann, J.; Muller-Myhsok, B.; Riedel, L.; Bauer, M.; Muller, T.; Castro, M.; Meitinger, T.; Strom, T. M.; Gasser, T. : Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nature Genet. 29: 66-69, 2001.
2001
Zivony-Elboum, Y., Westbroek, W., Kfir, N., Savitzki, D., Shoval, Y., Bloom, A., Rod, R., Khayat, M., Gross, B., Samri, W., Cohen, H., Sonkin, V., Freidman, T., Geiger, D., Fattal-Valevski, A., Anikster, Y., Waters, A. M., Kleta, R., Falik-Zaccai, T. C. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. J. Med. Genet. 49: 462-472, 2012.
2012
Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM, et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet. 1991 Jul;49(1):23-30.
1991
Zortea, M.; Vettori, A.; Trevisan, C. P.; Bellini, S.; Vazza, G.; Armani, M.; Simonati, A.; Mostacciuolo, M. L. : Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. J. Med. Genet. 39: 387-390, 2002.
2002
Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., Meier, M., Stetefeld, J., Hicks, D., Straub, V., Voermans, N. C., Birk, D. E., Barton, E. R., Koch, M., Bonnemann, C. G. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum. Molec. Genet. 23: 2339-2352, 2014.
2014
Zu L, Figueroa KP, Grewal R, Pulst SM. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet. 1999 Feb;64(2):594-9.
1999
Zuchner, S.; Kail, M. E.; Nance, M. A.; Gaskell, P. C.; Svenson, I. K.; Marchuk, D. A.; Pericak-Vance, M. A.; Ashley-Koch, A. E. : A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. (Letter) Neurogenetics 7: 127-129, 2006(a).
2006
Zuchner, S.; Mersiyanova, I. V.; Muglia, M.; Bissar-Tadmouri, N.; Rochelle, J.; Dadali, E. L.; Zappia, M.; Nelis, E.; Patitucci, A.; Senderek, J.; Parman, Y.; Evgrafov, O.; and 10 others : Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genet. 36: 449-451, 2004. Note: Corrigendum: Nature Genet. 36: 660 only, 2004.
2004
Zuchner, S.; Wang, G.; Tran-Viet, K.-N.; Nance, M. A.; Gaskell, P. C.; Vance, J. M.; Ashley-Koch, A. E.; Pericak-Vance, M. A. : Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am. J. Hum. Genet. 79: 365-369, 2006.(b)
2006
Zuhlke, C.; Hellenbroich, Y.; Dalski, A.; Kononowa, N.; Hagenah, J.; Vieregge, P.; Riess, O.; Klein, C.; Schwinger, E. : Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Europ. J. Hum. Genet. 9: 160-164, 2001.
2001