Reference table (All references)



References
Year
PubMed Id
Jackson JF, Currier RD, Terasaki PI, Morton NE. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med. 1977 May 19;296(20):1138-41.
1977
Jae, L. T., Raaben, M., Riemersma, M., van Beusekom, E., Blomen, V. A., Velds, A., Kerkhoven, R. M., Carette, J. E., Topaloglu, H., Meinecke, P., Wessels, M. W., Lefeber, D. J., Whelan, S. P., van Bokhoven, H., Brummelkamp, T. R. Deciphering the glycosylome of dystroglycanopathies using haploid screens for Lassa virus entry. Science 340: 479-483, 2013.
2013
Jansen, G. A.; Ofman, R.; Ferdinandusse, S.; Ijlst, L.; Muijsers, A. O.; Skjeldal, O. H.; Stokke, O.; Jakobs, C.; Besley, G. T. N.; Wraith, J. E.; Wanders, R. J. A. : Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nature Genet. 17: 190-193, 1997.
1997
Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989 Nov 16;321(20):1372-8.
1989
Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tetreault M, Loisel L, Bouchard JP and Brais B. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain 2007;130:368-80.
2007
Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC and Baloh RW. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007;130:2484-93.
2007
Jen, J. C.; Wan, J.; Palos, T. P.; Howard, B. D.; Baloh, R. W. : Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 65: 529-534, 2005.
2005
Jiang, H., Zhu, H.-P., Gomez, C. M. 2010. SCA32: an autosomal dominant cerebellar ataxia with azoospermia maps to chromosome 7q32-q33. (Abstract) Mov. Disord. 25: S192 only,.
2010
Jobsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet. 1996 Sep;14(1):113-5.
1996
Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet. 1997 Oct;6(11):1973-8.
1997
Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep;135(Pt 9):2875-82. Epub 2012 Jun 26.
2012
Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., Ding, J., McCluskey, L., and 25 others. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68: 857-864, 2010. Note: Erratum: Neuron 69: 397 only, 2011.
2011
Johnson, J. O., Pioro, E. P., Boehringer, A., Chia, R., Feit, H., Renton, A. E., Pliner, H. A., Abramzon, Y., Marangi, G., Winborn, B. J., Gibbs, J.R., Nalls, M. A., and 30 others. Mutations in the matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neurosci. 17: 664-666, 2014.
2014
Johnston, J. J.; Kelley, R. I.; Crawford, T. O.; Morton, D. H.; Agarwala, R.; Koch, T.; Schaffer, A. A.; Francomano, C. A.; Biesecker, L. G. : A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am. J. Hum. Genet. 67: 814-821, 2000.
2000
Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet. 2006 Feb;38(2):197-202. Epub 2006 Jan 22.
2006
Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V. Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. Am J Hum Genet. 2003 Dec;73(6):1423-30. Epub 2003 Nov 6.
2003
Jordanova, A.; De Jonghe, P.; Boerkoel, C. F.; Takashima, H.; De Vriendt, E.; Ceuterick, C.; Martin, J.-J.; Butler, I. J.; Mancias, P.; Papasozomenos, S. C.; Terespolsky, D.; Potocki, L.; Brown, C. W.; Shy, M.; Rita, D. A.; Tournev, I.; Kremensky, I.; Lupski, J. R.; Timmerman, V. : Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126: 590-597, 2003.
2003
Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet. 1994 Jul;7(3):402-7.
1994
Jung, M., I. Poepping, Perrot A, Ellmer AE, Wienker TF, Dietz R, Reis A, Osterziel KJ.. (1999). Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22. Am J Hum Genet 65(4): 1068-77.
1999
Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb S A, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry C A, Muller C, Muntoni F. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 2005; 65: 1930-5.
2005
Jungbluth, H.; Muller, C. R.; Halliger-Keller, B.; Brockington, M.; Brown, S. C.; Feng, L.; Chattopadhyay, A.; Mercuri, E.; Manzur, A. Y.; Ferreiro, A.; Laing, N. G.; Davis, M. R.; Roper, H. P.; Dubowitz, V.; Bydder, G.; Sewry, C. A.; Muntoni, F. : Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology 59: 284-287, 2002.
2002
Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J, et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet. 1994 Aug;3(8):1415-9.
1994
Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerche H, Nicole S, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horn F. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9549-54.
2000