Reference table (All references)



References
Year
PubMed Id
Tajsharghi H, Oldfors A, Macleod D P, Swash M. Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. Neurology 2007a; 68: 962.
2007
Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B. Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. Brain. 2010 May;133(Pt 5):1451-9.
2010
Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. Distal arthrogryposis and muscle weakness associated with a ß-tropomyosin mutation. Neurology 2007c;68:772-775.
2007
Tajsharghi H, Leren TP, Abdul-Hussein S, Tulinius M, Brunvand L, Dahl HM, Oldfors A. Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. J Med Genet. 2010 Aug;47(8):575-7. Epub 2009 Oct 26.
2009
Takashima H, Nakagawa M, Nakahara K, Suehara M, Matsuzaki T, Higuchi I, Higa H, Arimura K, Iwamasa T, Izumo S, Osame M. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol. 1997 Jun;41(6):771-80.
1997
Takashima, H.; Boerkoel, C. F.; John, J.; Saifi, G. M.; Salih, M. A. M.; Armstrong, D.; Mao, Y.; Quiocho, F. A.; Roa, B. B.; Nakagawa, M.; Stockton, D. W.; Lupski, J. R. : Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nature Genet. 32: 267-272, 2002.
2002
Takashima, H.; Nakagawa, M.; Suehara, M.; Saito, M.; Saito, A.; Kanzato, N.; Matsuzaki, T.; Hirata, K.; Terwilliger, J. D.; Osame, M. : Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. Neuromusc. Disord. 9: 368-371, 1999.
1999
Takata RI, Speck Martins CE, Passosbueno MR, Abe KT, Nishimura AL, Da Silva MD, Monteiro A Jr, Lima MI, Kok F, Zatz M. A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. J Med Genet. 2004 Mar;41(3):224-9. No abstract available.
2004
Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet. 1993 Jul;4(3):300-4.
1993
Tamiya, G., Makino, S., Hayashi, M., Abe, A., Numakura, C., Ueki, M., Tanaka, A., Ito, C., Toshimori, K., Ogawa, N., Terashima, T., Maegawa, H., Yanagisawa, D., Tooyama, I., Tada, M., Onodera, O., Hayasaka, K. A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 95: 294-300, 2014.
2014
Tang, B.; Luo, W.; Xia, K.; Xiao, J.; Jiang, H.; Shen, L.; Tang, J.; Zhao, G.; Cai, F.; Pan, Q.; Dai, H.; Yang, Q.; Xia, J.; Evgrafov, O. V. : A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. Hum. Genet. 114: 527-533, 2004.
2004
Tang, B.; Zhao, G.; Luo, W.; Xia, K.; Cai, F.; Pan, Q.; Zhang, R.; Zhang, F.; Liu, X.; Chen, B.; Zhang, C.; Shen, L.; Jiang, H.; Long, Z.; Dai, H. : Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum. Genet. 116: 222-224, 2005.
2005
Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG, Seidman CE. A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell. 1990 Sep 7;62(5):991-8.
1990
Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003 Mar 1;12(5):527-34.
2003
Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet. 1993 Jul;4(3):314-20.
1993
Tarui, S.; Okuno, G.; Ikura, Y.; Tanaka, T.; Suda, M.; Nishikawa, M. : Phosphofructokinase deficiency in skeletal muscle: a new type of glycogenosis. Biochem. Biophys. Res. Commun. 19: 517-523, 1965.
1965
Tasca G, Moro F, Aiello C, et al. Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene. Neurology 2013;80:963–5.
2013
Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K and Itoyama Y. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology 2002;58:323-5.
2002
Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun. 1983 Nov 15;116(3):880-8.
1983
Taylor, M. R.; Slavov, D.; Gajewski, A.; Vlcek, S.; Ku, L.; Fain, P. R.; Carniel, E.; Di Lenarda, A.; Sinagra, G.; Boucek, M. M.; Cavanaugh, J.; Graw, S. L.; Ruegg, P.; Feiger, J.; Zhu, X.; Ferguson, D. A.; Bristow, M. R.; Gotzmann, J.; Foisner, R.; Mestroni, L. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat 26, 566-74, 2005
2005
Tesson, C., Nawara, M., Salih, M. A. M., Rossignol, R., Zaki, M. S., Al Balwi, M., Schule, R., Mignot, C., Obre, E., Bouhouche, A., Santorelli, F. M., Durand, C. M., and 30 others. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am. J. Hum. Genet. 91: 1051-1064, 2012
2012
Tesson, C., Nawara, M., Salih, M. A. M., Rossignol, R., Zaki, M. S., Al Balwi, M., Schule, R., Mignot, C., Obre, E., Bouhouche, A., Santorelli, F. M., Durand, C. M., and 30 others. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am. J. Hum. Genet. 91: 1051-1064, 2012.
2012
Tetreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B. A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. Brain. 2006 Aug;129(Pt 8):2077-84. Epub 2006 Jun 7.
2006
Tetreault, M., Gonzalez, M., Dicaire, M.-J., Allard, P., Gehring, K., Leblanc, D., Leclerc, N., Schondorf, R., Mathieu, J., Zuchner, S., Brais, B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain 138: 1477-1483, 2015.
2015
Tezenas du Montcel, S.; Clot, F.; Vidailhet, M.; Roze, E.; Damier, P.; Jedynak, C. P.; Camuzat, A.; Lagueny, A.; Vercueil, L.; Doummar, D.; Guyant-Marechal, L.; Houeto, J.-L.; and 10 others : Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J. Med. Genet. 43: 394-400, 2006.
2006
Theis, J. L., Sharpe, K. M., Matsumoto, M. E., Chai, H. S., Nair, A. A., Theis, J. D., de Andrade, M., Wieben, E. D., Michels, V. V., Olson, T. M. Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Circ. Cardiovasc. Genet. 4: 585-594, 2011.
2011
Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994 Jun 3;77(5):701-12.
1994
Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain. 2006 Sep;129(Pt 9):2332-40. Epub 2006 May 3.
2006
Thomas, N. S. T.; Williams, H.; Cole, G.; Roberts, K.; Clarke, A.; Liechti-Gallati, S.; Braga, S.; Gerber, A.; Meier, C.; Moser, H.; Harper, P. S. : X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. J. Med. Genet. 27: 284-287, 1990.
1990
Tiab, L.; d'Alleves Manzi, V.; Borruat, F.-Z.; Munier, F. L.; Schorderet, D. F. : Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Ophthal. Genet. 25: 241-246, 2004.
2004
Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum. Molec. Genet. 21: 4151-4161, 2012.
2012
Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet. 1992 Jun;1(3):171-5. Erratum in: Nat Genet 1992 Sep;2(1):84.
1992
Timmerman V, Raeymaekers P, De Jonghe P, De Winter G, Swerts L, Jacobs K, Gheuens J, Martin JJ, Vandenberghe A, Van Broeckhoven C. Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. Am J Hum Genet. 1990 Oct;47(4):680-5.
1990
Tischfield, M. A., Baris, H. N., Wu, C., Rudolph, G., Van Maldergem, L., He, W., Chan, W.-M., Andrews, C., Demer, J. L., Robertson, R. L., Mackey, D. A., Ruddle, J. B., and 37 others Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 140: 74-87, 2010.
2010
Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001:10:189-194.
2001
Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M [corrected to Sakai M, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 1993 Nov;5(3):283-6. Erratum in: Nat Genet 1994 May;7(1):113.
1994
Tome FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, Campbell KP, Fardeau M. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III. 1994 Apr;317(4):351-7.
1994
Topaloglu, H., Brockington, M., Yuva, Y., Talim, B., Haliloglu, G., Blake, D., Torelli, S., Brown, S. C., Muntoni, F. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology 60: 988-992, 2003. Note: Erratum: Neurology 60: 1875 only, 2003.
2003
Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One. 2013 May 7;8(5):e63536.
2013
Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A 2006;140: 2387-2393.
2006
Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006;38:561-565
2006
Tranebjaerg, L.; Teslovich, T. M.; Jones, M.; Barmada, M. M.; Fagerheim, T.; Dahl, A.; Escolar, D. M.; Trent, J. M.; Gillanders, E. M.; Stephan, D. A. : Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. Hum. Genet. 113: 293-295, 2003.
2003
Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet. 2008 Feb;82(2):510-5. Epub 2008 Jan 18.
2008
Tsaousidou, M. K., Ouahchi, K., Warner, T. T., Yang, Y., Simpson, M. A., Laing, N. G., Wilkinson, P. A., Madrid, R. E., Patel, H., Hentati, F., Patton, M. A., Hentati, A., Lamont, P. J., Siddique, T., Crosby, A. H. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am. J. Hum. Genet. 82: 510-515, 2008.
2008
Tsoi, H., Yu, A. C. S., Chen, Z. S., Ng, N. K. N., Chan, A. Y. Y., Yuen, L. Y. P., Abrigo, J. M., Tsang, S. Y., Tsui, S. K. W., Tong, T. M. F., Lo, I. F. M., Lam, S. T. S., Mok, V. C. T., Wong, L. K. S., Ngo, J. C. K., Lau, K.-F., Chan, T.-F., Chan, H. Y. E. A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J. Med. Genet. 51: 590-595, 2014.
2014
Tsubata, S.; Bowles, K. R.; Vatta, M.; Zintz, C.; Titus, J.; Muhonen, L.; Bowles, N. E.; Towbin, J. A. : Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J. Clin. Invest. 106: 655-662, 2000.
2000
Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. Epub 2003 May 23.
2003
Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med. 1993 Jul 22;329(4):241-5.
1993
Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet. 1993 Mar;52(3):472-7.
1993
Tyson, J., L. Tranebjaerg, S. Bellman, C. Wren, J. F. Taylor, J. Bathen, B. Aslaksen, S. J. Sorland, O. Lund, S. Malcolm, M. Pembrey, S. Bhattacharya and M. Bitner-Glindzicz IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 1997, 6, 2179-85.
1997
Tyynismaa, H., Ylikallio, E., Patel, M., Molnar, M. J., Haller, R. G., Suomalainen, A. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am. J. Hum. Genet. 85: 290-295, 2009.
2009