Reference table (All references)



References
Year
PubMed Id
Ichida, F.; Tsubata, S.; Bowles, K. R.; Haneda, N.; Uese, K.; Miyawaki, T.; Dreyer, W. J.; Messina, J.; Li, H.; Bowles, N. E.; Towbin, J. A. : Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103: 1256-1263, 2001.
2001
Ikeda, Y.; Dick, K. A.; Weatherspoon, M. R.; Gincel, D.; Armbrust, K. R.; Dalton, J. C.; Stevanin, G.; Durr, A.; Zuhlke, C.; Burk, K.; Clark, H. B.; Brice, A.; Rothstein, J. D.; Schut, L. J.; Day, J. W.; Ranum, L. P. W. : Spectrin mutations cause spinocerebellar ataxia type 5. Nature Genet. 38: 184-190, 2006.
2006
Ikeuchi T, Asaka T, Saito M, Tanaka H, Higuchi S, Tanaka K, Saida K, Uyama E, Mizusawa H, Fukuhara N, Nonaka I, Takamori M, Tsuji S. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol. 1997 Apr;41(4):432-7.
1997
Ikeuchi, T.; Shimohata, T.; Nakano, R.; Koide, R.; Takano, H.; Tsuji, S. : A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. Neurogenetics 2: 189-190, 1999.
1999
Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Olde Weghuis D, Suijkerbuijk RF, Heytens L, Mikala G, Schwartz A, Ellis FR, et al. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet. 1994 Jun;3(6):969-75.
1994
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996 Nov;14(3):285-91.
1996
Inagaki N, Hayashi T, Arimura T, Koga Y, Takahashi M, Shibata H, Teraoka K, Chikamori T, Yamashina A, Kimura A. Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun. 2006 Apr 7;342(2):379-86. Epub 2006 Feb 8.
2006
Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., Matsuda, I. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nature Genet. 13: 485-488, 1996.
1996
Indo, Y.; Glassberg, R.; Yokota, I.; Tanaka, K. : Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. Am. J. Hum. Genet. 49: 575-580, 1991.
1991
Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet. 1996 Sep;5(9):1373-5.
1996
Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C. X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve. 1992 Mar;15(3):368-73.
1992
Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R195-202. Review.
2004
Ismailov, S. M.; Fedotov, V. P.; Dadali, E. L.; Polyakov, A. V.; Van Broeckhoven, C.; Ivanov, V. I.; De Jonghe, P.; Timmerman, V.; Evgrafov, O. V. : A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Europ. J. Hum. Genet. 9: 646-650, 2001
2001
Isozumi, K.; DeLong, R.; Kaplan, J.; Deng, H.-X.; Iqbal, Z.; Hung, W.-Y.; Wilhelmsen, K. C.; Hentati, A.; Pericak-Vance, M. A.; Siddique, T. : Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. Hum. Molec. Genet. 5: 1377-1382, 1996.
1996
Itoh-Satoh, M.; Hayashi, T.; Nishi, H.; Koga, Y.; Arimura, T.; Koyanagi, T.; Takahashi, M.; Hohda, S.; Ueda, K.; Nouchi, T.; Hiroe, M.; Marumo, F.; Imaizumi, T.; Yasunami, M.; Kimura, A. : Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 291: 385-393, 2002.
2002
Izumi R., Warita H., Niihori T., et al. Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation. Neurol Genet 2015;1:e23.
2015