Reference table (All references)



References
Year
PubMed Id
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2014
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2006
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2001
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1996
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2009
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2000
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2007
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2005
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1997
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1993
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2013
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2013
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1998
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1996
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1990
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2013
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2013
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1988
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1993
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1998
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1999
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2015
Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH. Related Articles, Links Free in PMC Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet. 2003 Apr;72(4):839-49. Epub 2003 Mar 17.
2003
Chen, L., Marquardt, M. L., Tester, D. J., Sampson, K. J., Ackerman, M. J., Kass, R. S. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc. Nat. Acad. Sci. 104: 20990-20995, 2007.
2007
Chen, Y.-C., Auer-Grumbach, M., Matsukawa, S., Zitzelsberger, M., Themistocleous, A. C., Strom, T. M., Samara, C., Moore, A. W., Cho, L. T.-Y., Young, G. T., Weiss, C., Schabhuttl, M., and 47 others. Transcriptional regulator PRDM12 is essential for human pain perception. Nature Genet. 47: 803-808, 2015. Note: Erratum: Nature Genet. 47: 962 only, 2015.
2015
Chen, Y.-Z.; Bennett, C. L.; Huynh, H. M.; Blair, I. P.; Puls, I.; Irobi, J.; Dierick, I.; Abel, A.; Kennerson, M. L.; Rabin, B. A.; Nicholson, G. A.; Auer-Grumbach, M.; Wagner, K.; De Jonghe, P.; Griffin, J. W.; Fischbeck, K. H.; Timmerman, V.; Cornblath, D. R.; Chance, P. F. : DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am. J. Hum. Genet. 74: 1128-1135, 2004.
2004
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2004
Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. J Am Coll Cardiol. 2010 Mar 16;55(11):1127-35.
2010
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007 Jul 5;448(7149):68-72. Epub 2007 Jun 17.
2007
Chow, C. Y., Landers, J. E., Bergren, S. K., Sapp, P. C., Grant, A. E., Jones, J. M., Everett, L., Lenk, G. M., McKenna-Yasek, D. M., Weisman, L. S., Figlewicz, D., Brown, R. H., Meisler, M. H. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am. J. Hum. Genet. 84: 85-88, 2009
2009
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2001
Christodoulou K, Kyriakides T, Hristova AH, Georgiou DM, Kalaydjieva L, Yshpekova B, Ivanova T, Weber JL, Middleton LT. Related Articles, Links Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. Hum Mol Genet. 1995 Sep;4(9):1629-32.
1995
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1997
Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton L. A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12. Ann Neurol. 2000 Dec;48(6):877-84.
2000
Chung MY, Lu YC, Cheng NC, Soong BW. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain. 2003 Jun;126(Pt 6):1293-9.
2003
Chung, K. W.; Sunwoo, I. N.; Kim, S. M.; Park, K. D.; Kim, W.-K.; Kim, T. S.; Koo, H.; Cho, M.; Lee, J.; Choi, B. O. : Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. Neurogenetics 6: 159-163, 2005.
2005
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2010
Claramunt, R., Pedrola, L., Sevilla, T., Lopez de Munain, A., Berciano, J., Cuesta, A., Sanchez-Navarro, B., Millan, J. M., Saifi, G. M., Lupski, J. R., Vilchez, J. J., Espinos, C., Palau, F. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J. Med. Genet. 42: 358-365, 2005.
2005
Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol. 2006 Mar;59(3):546-52.
2006
Clarke, N. F.; Kolski, H.; Dye, D. E.; Lim, E.; Smith, R. L. L.; Patel, R.; Fahey, M. C.; Bellance, R.; Romero, N. B.; Johnson, E. S.; Labarre-Vila, A.; Monnier, N.; Laing, N. G.; North, K. N. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann. Neurol. 63: 329-337, 2008.
2008
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2003
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2008
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2008
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1995
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1994
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2001
Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet. 2008 Dec;83(6):714-24. Epub 2008 Nov 20.
2008
Cortese, A., Tucci, A., Piccolo, G., Galimberti, C. A., Fratta, P., Marchioni, E., Grampa, G., Cereda, C., Grieco, G., Ricca, I., Pittman, A., Ciscato, P., and 9 others. Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology 82: 2072-2076, 2014.
2014
Cossins J, Belaya K, Hicks D, et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain. 2013 Mar;136 (Pt3):944–56.
2013
Cottenie, E., Kochanski, A., Jordanova, A., Bansagi, B., Zimon, M., Horga, A., Jaunmuktane, Z., Saveri, P., Rasic, V. M., Baets, J., Bartsakoulia, M., Ploski, R., and 28 others. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet 95:590-601.
2014
Coutelier, M., Blesneac, I., Monteil, A., Monin, M.-L., Ando, K., Mundwiller, E., Brusco, A., Le Ber, I., Anheim, M., Castrioto, A., Duyckaerts, C., Brice, A., Durr, A., Lory, P., Stevanin, G. A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia. Am. J. Hum. Genet. 97: 726-737, 2015.
2015
Coutelier, M., Goizet, C., Durr, A., Habarou, F., Morais, S., Dionne-Laporte, A., Tao, F., Konop, J., Stoll, M., Charles, P., Jacoupy, M., Matusiak, R. and 22 others. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 138: 2191-2205, 2015.
2015
Cox, L. E., Ferraiuolo, L., Goodall, E. F., Heath, P. R., Higginbottom, A., Mortiboys, H., Hollinger, H. C., Hartley, J. A., Brockington, A., Burness, C. E., Morrison, K. E., Wharton, S. B., Grierson, A. J., Ince, P. G., Kirby, J., Shaw, P. J. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS One 5: e9872, 2010. Note: Electronic Article.
2010
Crockett CD, Ruggieri A, Gujrati M, Zallek CM, Ramachandran N, Minassian BA, Moore SA. Late adult-onset of X-linked myopathy with excessive autophagy. Muscle Nerve. 2014 Jul;50(1):138-44. doi: 10.1002/mus.24197. Epub 2014 May 17.
2014
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2010
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1997
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2002
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1995