Reference table (All references)



References
Year
PubMed Id
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2000
Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet. 1996 Oct;14(2):214-7.
1996
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2000
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1981
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2000
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1991
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994 Nov;8(3):221-8.
1994
Kayman-Kurekci G, Talim B, Korkusuz P, Sayar N, Sarioglu T, Oncel I, Sharafi P, Gundesli H, Balci-Hayta B, Purali N, Serdaroglu-Oflazer P, Topaloglu H, Dincer P. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromuscul Disord. 2014 Jul;24(7):624-33. doi: 10.1016/j.nmd.2014.04.007. Epub 2014 May 2.
2014
Kayman-Kurekci, G., Korkusuz, P., Dincer, P. Response (to Sewry and Gobel). (Letter) Neuromusc. Disord. 24: 1122 only, 2014.
2014
Kayman-Kurekci, G., Talim, B., Korkusuz, P., Sayar, N., Sarioglu, T., Oncel, I., Sharafi, P., Gundesli, H., Balci-Hayta, B., Purali, N., Serdaroglu-Oflazer, P., Topaloglu, H., Dincer, P. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromusc. Disord. 24: 624-633, 2014.
2014
Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Muller CR, Heffron JJ, et al. Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum Mol Genet. 1994 Oct;3(10):1855-8.
1994
Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet. 2010 Mar 12;86(3):343-52. Epub 2010 Feb 18.
2010
Kennerson, M. L., Yiu, E. M., Chuang, D. T., Kidambi, A., Tso, S.-C., Ly, C., Chaudhry, R., Drew, A. P., Rance, G., Delatycki, M. B., Zuchner, S., Ryan, M. M., Nicholson, G. A. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum. Molec. Genet. 22: 1404-1416, 2013.
2013
Kenwrick S, Ionasescu V, Ionasescu G, Searby C, King A, Dubowitz M, Davies KE. Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet. 1986 Jul;73(3):264-6.
1986
Keppen LD, Leppert MF, O'Connell P, Nakamura Y, Stauffer D, Lathrop M, Lalouel JM, White R. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet. 1987 Nov;41(5):933-43.
1987
Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol. 2007 May;64(5):749-52.
2007
Khati C, Stevanin G, Durr A, Chneiweiss H, Belal S, Seck A, Cann H, Brice A, Agid Y. Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families. Neurology. 1993 Jun;43(6):1131-7.
1993
Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007 Sep;81(3):552-8. Epub 2007 Jun 29.
2007
Kim, H. J., Hong, Y. B., Park, J.-M., Choi, Y.-R., Kim, Y. J., Yoon, B. R., Koo, H., Yoo, J. H., Kim, S. B., Park, M., Chung, K. W., Choi, B.-O. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. Orphanet J. Rare Dis. 8: 104, 2013. Note: Electronic Article.
2013
Kim, H. J., Kim, N. C., Wang, Y.-D., Scarborough, E. A., Moore, J., Diaz, Z., MacLea, K. S., Freibaum, B., Li, S., Molliex, A., and 25 others. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495: 467-473, 2013.
2013
Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M. A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. Neurology. 2006 Aug 22;67(4):597-601.
2006
Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997 Aug;16(4):379-82.
1997
Klar, J., Sobol, M., Melberg, A., Mabert, K., Ameur, A., Johansson, A. C. V., Feuk, L., Entesarian, M., Orlen, H., Casar-Borota, O., Dahl, N. Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. Hum. Mutat. 34: 572-577, 2013.
2013
Klebe, S.; Azzedine, H.; Durr, A.; Bastien, P.; Bouslam, N.; Elleuch, N.; Forlani, S.; Charon, C.; Koenig, M.; Melki, J.; Brice, A.; Stevanin, G. : Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain 129: 1456-1462, 2006.
2006
Klein, C. J., Botuyan, M. V., Wu, Y., Ward, C. J., Nicholson, G. A., Hammans, S., Hojo, K., Yamanishi, H., Karpf, A. R., Wallace, D. C., Simon, M., Lander, C., and 12 others. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nature Genet. 43: 595-600, 2011.
2011
Klein, C. J., Wu, Y., Vogel, P., Goebel, H. H., Bonnemann, C., Zukosky, K., Botuyan, M.-V., Duan, X., Middha, S., Atkinson, E. J., Mer, G., Dyck, P. J. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. Neurology 82: 873-878, 2014.
2014
Klein, C. J.; Cunningham, J. M.; Atkinson, E. J.; Schaid, D. J.; Hebbring, S. J.; Anderson, S. A.; Klein, D. M.; Dyck, P. J. B.; Litchy, W. J.; Thibodeau, S. N.; Dyck, P. J. : The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 60: 1151-1156, 2003.
2003
Klein, C.; Schilling, K.; Saunders-Pullman, R. J.; Garrels, J.; Breakefield, X. O.; Brin, M. F.; deLeon, D.; Doheny, D.; Fahn, S.; Fink, J. S.; Forsgren, L.; Friedman, J.; and 20 others : A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am. J. Hum. Genet. 67: 1314-1319, 2000.
2000
Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet. 2016 Mar 3;98(3):473-89. doi: 10.1016/j.ajhg.2016.01.006.
2016
Knight, M. A.; Gardner, R. J. M.; Bahlo, M.; Matsuura, T.; Dixon, J. A.; Forrest, S. M.; Storey, E. : Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 127: 1172-1181, 2004.
2004
Knight, M. A.; Kennerson, M. L.; Anney, R. J.; Matsuura, T.; Nicholson, G. A.; Salimi-Tari, P.; Gardner, R. J. M.; Storey, E.; Forrest, S. M. : Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol. Dis. 13: 147-157, 2003.
2003
Knoll R, Postel R, Wang J, Kratzner R, Hennecke G, Vacaru AM, Vakeel P, Schubert C, Murthy K, Rana BK, Kube D, Knoll G, Schafer K, Hayashi T, Holm T, Kimura A, Schork N, Toliat MR, Nurnberg P, Schultheiss H-P, Schaper W, Schaper J, Bos E, Hertog JD, van Eeden FJM, Peters PJ, Hasenfuss G, Chien KR and Bakkers J. Laminin-{alpha}4 and Integrin-Linked Kinase Mutations Cause Human Cardiomyopathy Via Simultaneous Defects in Cardiomyocytes and Endothelial Cells. Circulation 2007;116:515-525.
2007
Knoll, R.; Hoshijima, M.; Hoffman, H. M.; Person, V.; Lorenzen-Schmidt, I.; Bang, M.-L.; Hayashi, T.; Shiga, N.; Yasukawa, H.; Schaper, W.; McKenna, W.; Yokoyama, M.; and 9 others : The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 111: 943-955, 2002.
2002
Kobayashi H, Hoffman EP, Marks HG. The rumpshaker mutation in spastic paraplegia. Nat Genet. 1994 Jul;7(3):351-2.
1994
Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998 Jul 23;394(6691):388-92
1998
Kobayashi, H., Abe, K., Matsuura, T., Ikeda, Y., Hitomi, T., Akechi, Y., Habu, T., Liu, W., Okuda, H., Koizumi, A. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am. J. Hum. Genet. 89: 121-130, 2011.
2011
Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992 Aug 7;257(5071):797-800.
1992
Koch, M.; Harley, H.; Sarfarazi, M.; Bender, K.; Wienker, T.; Zoll, B.; Harper, P. S. : Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19. Hum. Genet. 82: 163-166, 1989.
1989
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987 Jul 31;50(3):509-17.
1987
Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988 Apr 22;53(2):219-26.
1988
Koide, R.; Kobayashi, S.; Shimohata, T.; Ikeuchi, T.; Maruyama, M.; Saito, M.; Yamada, M.; Takahashi, H.; Tsuji, S. : A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum. Molec. Genet. 8: 2047-2053, 1999.
1999
Kok, C.; Kennerson, M. L.; Spring, P. J.; Ing, A. J.; Pollard, J. D.; Nicholson, G. A. : A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am. J. Hum. Genet. 73: 632-637, 2003.
2003
Kolb, S. J., Snyder, P. J., Poi, E. J., Renard, E. A., Bartlett, A., Gu, S., Sutton, S., Arnold, W. D., Freimer, M. L., Lawson, V. H., Kissel, J. T., Prior, T. W. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology 74: 502-506, 2010.
2010
Kollberg G, Tulinius M, Gilljam T, Östman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E. Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. N Engl J Med. 2007 Oct 11;357(15):1507-14.
2007
Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nat Genet. 1999 Apr;21(4):379-84.
1999
Kornak, U., Mademan, I., Schinke, M., Voigt, M., Krawitz, P., Hecht, J., Barvencik, F., Schinke, T., Giesselmann, S., Beil, F. T., Pou-Serradell, A., Vilchez, J. J., and 11 others. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 137: 683-692, 2014.
2014
Kovach, M. J.; Lin, J.-P.; Boyadjiev, S.; Campbell, K.; Mazzeo, L.; Herman, K.; Rimer, L. A.; Frank, W.; Llewellyn, B.; Jabs, E. W.; Gelber, D.; Kimonis, V. E. : A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am. J. Hum. Genet. 64: 1580-1593, 1999.
1999
Krajinovic, M.; Pinamonti, B.; Sinagra, G.; Vatta, M.; Severini, G. M.; Milasin, J.; Falaschi, A.; Camerini, F.; Giacca, M.; Mestroni, L.; Heart Muscle Disease Study Group : Linkage of familial dilated cardiomyopathy to chromosome 9. Am. J. Hum. Genet. 57: 846-852, 1995.
1995
Kranz, C., Jungeblut, C., Denecke, J., Erlekotte, A., Sohlbach, C., Debus, V., Kehl, H. G., Harms, E., Reith, A., Reichel, S., Grobe, H., Hammersen, G., Schwarzer, U., Marquardt, T. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am. J. Hum. Genet. 80: 433-440, 2007.
2007
Kubisch, C.; Ketelsen, U.-P.; Goebel, I.; Omran, H. :PubMed ID : 12666119 2. Kubisch, C.; Ketelsen, U.-P.; Goebel, I.; Omran, H. : Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. (Letter) Ann. Neurol. 57: -304, 2005.
2005
Kubisch, C.; Schoser, B. G. H.; v. During, M.; Betz, R. C.; Goebel, H.-H.; Zahn, S.; Ehrbrecht, A.; Aasly, J.; Schroers, A.; Popovic, N.; Lochmuller, H.; Schroder, J. M.; Bruning, T.; Malin, J.-P.; Fricke, B.; Meinck, H.-M.; Torbergsen, T.; Engels, H.; Voss, B.; Vorgerd, M. : Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann. Neurol. 53: 512-520, 2003.
2003
Kuhl A, Melberg A, Meinl E, Nürnberg G, Nürnberg P, Kehrer-Sawatzki H, Jenne DE. Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet. 2008 Mar;16(3):367-73. Epub 2008 Jan 16.
2008
Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, te Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FG, de Visser M, Hoogendijk JE, et al. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet. 1993 Sep;5(1):35-9.
1993
Kurth, I., Pamminger, T., Hennings, J. C., Soehendra, D., Huebner, A. K., Rotthier, A., Baets, J., Senderek, J., Topaloglu, H., Farrell, S. A., Nurnberg, G., Nurnberg, P., De Jonghe, P., Gal, A., Kaether, C., Timmerman, V., Hubner, C. A. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nature Genet. 41: 1179-1181, 2009.
2009
Kwiatkowski TJ, Jr., Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE and Brown RH, Jr. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009;323:1205-8.
2009
Kwon, J. M.; Elliott, J. L.; Yee, W.-C.; Ivanovich, J.; Scavarda, N. : Charcot-Marie-Tooth type II locus to chromosome 3q. Am. J. Hum. Genet. 57: 853-858, 1995.
1995
Kyndt F, Gueffet J P, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch S A, Newbury-Ecob R, Tran V, Young I, Trochu J N, Le Marec H, Schott J J. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation 2007; 115: 40-9.
2007
Kyndt, F.; Schott, J.-J.; Trochu, J.-N.; Baranger, F.; Herbert, O.; Scott, V.; Fressinaud, E.; David, A.; Moisan, J.-P.; Bouhour, J.-B.; Le Marec, H.; Benichou, B. : Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Am. J. Hum. Genet. 62: 627-632, 1998.
1998