Reference table (All references)



References
Year
PubMed Id
Vahedi K, Joutel A, Van Bogaert P, et al. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995;37:289- 293.
1995
Valdmanis, P. N.; Meijer, I. A.; Reynolds, A.; Lei, A.; MacLeod, P.; Schlesinger, D.; Zatz, M.; Reid, E.; Dion, P. A.; Drapeau, P.; Rouleau, G. A. : Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am. J. Hum. Genet. 80: 152-161, 2007.
2007
Valente, E. M.; Brancati, F.; Caputo, V.; Bertini, E.; Patrono, C.; Costanti, D.; Dallapiccola, B. : Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. Ann. Neurol. 51: 681-685, 2002.
2002
Van Damme, P., Veldink, J. H., van Blitterswijk, M., Corveleyn, A., van Vught, P. W. J., Thijs, V., Dubois, B., Matthijs, G., van den Berg, L. H., Robberecht, W. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 76: 2066-2072, 2011.
2011
van de Leemput, J.; Chandran, J.; Knight, M. A.; Holtzclaw, L. A.; Scholz, S.; Cookson, M. R.; Houlden, H.; Gwinn-Hardy, K.; Fung, H.-C.; Lin, X.; Hernandez, D.; Simon-Sanchez, J.; and 11 others : Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 3: e108, 2007.
2007
van den Brink, D. M.; Brites, P.; Haasjes, J.; Wierzbicki, A. S.; Mitchell, J.; Lambert-Hamill, M.; de Belleroche, J.; Jansen, G. A.; Waterham, H. R.; Wanders, R. J. A. : Identification of PEX7 as the second gene involved in Refsum disease. Am. J. Hum. Genet. 72: 471-477, 2003.
2003
van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet. 1997 Apr;60(4):891-5.
1997
van der Maarel, S. M.; Frants, R. R. : The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 76: 375-386, 2005.
2005
Van der Vleuten, A. J. W.; van Ravenswaaij-Arts, C. M. A.; Frijns, C. J. M.; Smits, A. P. T.; Hageman, G.; Padberg, G. W.; Kremer, H. : Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24. Europ. J. Hum. Genet. 6: 376-382, 1998.
1998
Van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet. 1993 Dec;2(12):2037-42.
1993
Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001 Jul;28(3):211-2.
2001
van Hengel, J., Calore, M., Bauce, B., Dazzo, E., Mazzotti, E., De Bortoli, M., Lorenzon, A., Li Mura, I. E. A., Beffagna, G., Rigato, I., Vleeschouwers, M., Tyberghein, K., and 10 others. Mutations in the area composita protein alpha-T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. Europ. Heart J. 34: 201-210, 2013.
2013
Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation. 2007 Nov 13;116(20):2253-9. Epub 2007 Oct 29.
2007
van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec;42(12):907-12. Epub 2005 May 13.
2005
van Reeuwijk, J.; Maugenre, S.; van den Elzen, C.; Verrips, A.; Bertini, E.; Muntoni, F.; Merlini, L.; Scheffer, H.; Brunner, H. G.; Guicheney, P.; van Bokhoven, H.: The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum. Mutat. 27: 453-459, 2006.
2006
van Swieten, J. C.; Brusse, E.; de Graaf, B. M.; Krieger, E.; van de Graaf, R.; de Koning, I.; Maat-Kievit, A.; Leegwater, P.; Dooijes, D.; Oostra, B. A.; Heutink, P. : A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral (sic) ataxia. Am. J. Hum. Genet. 72: 191-199, 2003.
2003
Vance JM, Nicholson GA, Yamaoka LH, Stajich J, Stewart CS, Speer MC, Hung WY, Roses AD, Barker D, Pericak-Vance MA. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol. 1989 May;104(2):186-9.
1989
Vance, C.; Rogelj, B.; Hortobagyi, T.; De Vos, K. J.; Nishimura, A. L.; Sreedharan, J.; Hu, X.; Smith, B.; Ruddy, D.; Wright, P.; Ganesalingam, J.; Williams, K. L.; and 10 others : Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323: 1208-1211, 2009.
2009
Vanegas, O. C., Bertini, E., Zhang, R.-Z., Petrini, S., Minosse, C., Sabatelli, P., Giusti, B., Chu, M.-L., Pepe, G. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc. Nat. Acad. Sci. 98: 7516-7521, 2001.
2001
Varga, R.-E., Schule, R., Fadel, H., Valenzuela, I., Speziani, F., Gonzalez, M., Rudenskaia, G., Nurnberg, G., Thiele, H., Altmuller, J., Alvarez, V., Gamez, J., Garbern, J. Y., Nurnberg, P., Zuchner, S., Beetz, C. Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Hum. Mutat. 34: 860-863, 2013.
2013
Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct;35(2):185-9. Epub 2003 Sep 21.
2003
Vasile V C, Will M L, Ommen S R, Edwards W D, Olson T M, Ackerman M J. Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. Mol Genet Metab 2006; 87: 169-74.
2006
Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ and Towbin JA. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006;114:2104-12.
2006
Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27.
2003
Vazza, G.; Zortea, M.; Boaretto, F.; Micaglio, G. F.; Sartori, V.; Mostacciuolo, M. L. : A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. Am. J. Hum. Genet. 67: 504-509, 2000.
2000
Verbeek, D. S.; Schelhaas, J. H.; Ippel, E. F.; Beemer, F. A.; Pearson, P. L.; Sinke, R. J. : Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum. Genet. 111: 388-393, 2002.
2002
Verbeek, D. S.; van de Warrenburg, B. P.; Wesseling, P.; Pearson, P. L.; Kremer, H. P.; Sinke, R. J. : Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. Brain 127: 2551-2557, 2004.
2004
Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet. 2001 Oct;69(4):889-94. Epub 2001 Aug 30.
2001
Verhoeven, K.; De Jonghe, P.; Van de Putte, T.; Nelis, E.; Zwijsen, A.; Verpoorten, N.; De Vriendt, E.; Jacobs, A.; Van Gerwen, V.; Francis, A.; Ceuterick, C.; Huylebroeck, D.; Timmerman, V. : Slowed conduction and thin myelination of peripheral nerves associated with mutant Rho guanine-nucleotide exchange factor 10. Am. J. Hum. Genet. 73: 926-932, 2003.
2003
Verkerk, A. J. M. H., Schot, R., Dumee, B., Schellekens, K., Swagemakers, S., Bertoli-Avella, A. M., Lequin, M. H., Dudink, J., Govaert, P., van Zwol, A. L., Hirst, J., Wessels, M. W., and 9 others. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am. J. Hum. Genet. 85: 40-52, 2009.
2009
Vester, A., Velez-Ruiz, G., McLaughlin, H. M., NISC Comparative Sequencing Program, Lupski, J. R., Talbot, K., Vance, J. M., Zuchner, S., Roda, R. H., Fischbeck, K. H., Biesecker, L. G., Nicholson, G., Beg, A. A., Antonellis, A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum. Mutat. 34: 191-199, 2013.
2013
Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. N Engl J Med 2004;351:460-469.
2004
Vieira, N. M., Naslavsky, M. S., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., Sanchez, N., Kitajima, J. P., Gal, L., Cavacana, N., Serafini, P. R., Chuartzman, S., Vasquez, C., Mimbacas, A., Nigro, V., Pavanello, R. C., Schuldiner, M., Kunkel, L. M., Zatz, M. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum. Molec. Genet. 23: 4103-4110, 2014.
2014
Villard, L.; des Portes, V.; Levy, N.; Louboutin, J.-P.; Recan, D.; Coquet, M.; Chabrol, B.; Figarella-Branger, D.; Chelly, J.; Pellissier, J.-F.; Fontes, M. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. Europ. J. Hum. Genet. 8: 125-129, 2000.
2000
Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A. Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families. Eur J Hum Genet. 2004 Jun;12(6):483-8.
2004
Von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet. 1995 Feb;4(2):279-84.
1995
Vora S, Durham S, de Martinville B, George DL, Francke U. Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen leads to q32) using somatic cell hybrids and monoclonal anti-M antibody. Somatic Cell Genet. 1982 Jan;8(1):95-104.
1982
Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005 Aug;77(2):297-304. Epub 2005 May 31.
2005
Vuillaume, I.; Devos, D.; Schraen-Maschke, S.; Dina, C.; Lemainque, A.; Vasseur, F.; Bocquillon, G.; Devos, P.; Kocinski, C.; Marzys, C.; Destee, A.; Sablonniere, B. : A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann. Neurol. 52: 666-670, 2002.
2002
Vuillaumier-Barrot, S., Bouchet-Seraphin, C., Chelbi, M., Devisme, L., Quentin, S., Gazal, S., Laquerriere, A., Fallet-Bianco, C., Loget, P., Odent, S., Carles, D., Bazin, A., and 14 others. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am. J. Hum. Genet. 91: 1135-1143, 2012.
2012