Reference table (All references)



References
Year
PubMed Id
Nadal, N.; Rolland, M.-O.; Tranchant, C.; Reutenauer, L.; Gyapay, G.; Warter, J.-M.; Mandel, J.-L.; Koenig, M. : Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Hum. Molec. Genet. 4: 1963-1966, 1995.
1995
Nagaoka, U.; Takashima, M.; Ishikawa, K.; Yoshizawa, K.; Yoshizawa, T.; Ishikawa, M.; Yamawaki, T.; Shoji, S.; Mizusawa, H. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology 54: 1971-1975, 2000.
2000
Nakano, M.; Yamada, K.; Fain, J.; Sener, E. C.; Selleck, C. J.; Awad, A. H.; Zwaan, J.; Mullaney, P. B.; Bosley, T. M.; Engle, E. C. : Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nature Genet. 29: 315-320, 2001.
2001
Nakhro K PJ, Hong YB, Park JH, et al. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology. 2013; un 7.
2013
Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, Grantham TT, Fox MF, Povey S, de Bruin TW and et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet 1995;57:1298-310.
1995
Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet. 2007 Sep;81(3):530-9. Epub 2007 Jul 24.
2007
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am J Hum Genet. 2007 Sep;81(3):589-95. Epub 2007 Jul 24.
2007
Nelis, E.; Berciano, J.; Verpoorten, N.; Coen, K.; Dierick, I.; Van Gerwen, V.; Combarros, O.; De Jonghe, P.; Timmerman, V. : Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. J. Med. Genet. 41: 193-197, 2004.
2004
Nelis, E.; De Jonghe, P.; De Vriendt, E.; Patel, P. I.; Martin, J.-J.; Van Broeckhoven, C. : Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. J. Med. Genet. 35: 590-593, 1998.
1998
Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. doi: 10.1073/pnas.1312520111. Epub 2014 Mar 3.
2014
Neveling, K., Martinez-Carrera, L. A., Holker, I., Heister, A., Verrips, A., Hosseini-Barkooie, S. M., Gilissen, C., Vermeer, S., Pennings, M., Meijer, R., te Riele, M., Frijns, C. J. M., and 12 others. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am. J. Hum. Genet. 92: 946-954, 2013.
2013
Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet. 1997 Feb;15(2):186-9.
1997
Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet. 1999 Jan;21(1):91-4.
1999
Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, Nash J, Bananis T. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet. 1996 May;13(1):101-4.
1996
Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet. 1994 Mar;6(3):263-6. Erratum in: Nat Genet 1994 May;7(1):113.
1994
Nicolao P, Xiang F, Gunnarsson LG, Giometto B Edstro¨m L, Anvret M, Zhang Z. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. Am J Hum Genet 1999;64:788-792.
1999
Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. Eur J Hum Genet. 2012 Jul 11. doi: 10.1038/ejhg.2012.146.
2012
Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J, et al. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. Hum Mol Genet. 1995 Sep;4(9):1633-6.
1995
Nicot A S, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier J M, Biancalana V, Oldfors A, Mandel J L, Laporte J. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007; 39: 1134-1139.
2007
Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol Genet. 1995 Oct;4(10):2003-4.
2003
Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet. 1996 Oct;14(2):195-8.
1996
Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T and Peltonen L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 2005;14:2981-90.
2005
Nikali, K.; Isosomppi, J.; Lonnqvist, T.; Mao, J.; Suomalainen, A.; Peltonen, L. : Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24. Genomics 39: 185-191, 1997.
1997
Nilsson J, Schoser B, Laforet P, et al. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol. 2013 Jun 24
2013
Nishimura, A. L.; Mitne-Neto, M.; Silva, H. C. A.; Oliveira, J. R. M.; Vainzof, M.; Zatz, M. : A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13. J. Med. Genet. 41: 315-320, 2004.
2004
Nishimura, A. L.; Mitne-Neto, M.; Silva, H. C. A.; Richieri-Costa, A.; Middleton, S.; Cascio, D.; Kok, F.; Oliveira, J. R. M.; Gillingwater, T.; Webb, J.; Skehel, P.; Zatz, M. : A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet. 75: 822-831, 2004.
2004
Nishizawa, M.; Kaneko, J.; Tanaka, H.; Tsuji, S.; Tashiro, K. : A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann. Neurol. 48: 156-163, 2000.
2000
Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 1995 Nov 3;270(5237):819-22.
1995
Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet. 2008 Feb;40(2):155-7. Epub 2008 Jan 20.
2008
Novarino, G., Fenstermaker, A. G., Zaki, M. S., Hofree, M., Silhavy, J., Heiberg, A. D., Abdellateef, M., Rosti, B., Scott, E., Mansour, L., Masri, A., Kayserili, H., and 41 others. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343: 506-511, 2014
2014
Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23:208-212.
1999