-
1
-
-
33947103048
-
Polymorphisms in the neuromyelitis optica auto-antigen AQP4 and susceptibility to multiple sclerosis
-
Ban M., Walton A., Goris A., et al. Polymorphisms in the neuromyelitis optica auto-antigen AQP4 and susceptibility to multiple sclerosis. J. Neurol. 2007, 254:398-399.
-
(2007)
J. Neurol.
, vol.254
, pp. 398-399
-
-
Ban, M.1
Walton, A.2
Goris, A.3
-
2
-
-
13444269543
-
Haploview: analysis and visualization of LD and haplotype maps
-
Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
3
-
-
34250706409
-
Idiopathic inflammatory-demyelinating diseases of the central nervous system
-
Canellas A.R., Gols A.R., Izquierdo J.R., Subirana M.T., Gairin X.M. Idiopathic inflammatory-demyelinating diseases of the central nervous system. Neuroradiology 2007, 49:393-409.
-
(2007)
Neuroradiology
, vol.49
, pp. 393-409
-
-
Canellas, A.R.1
Gols, A.R.2
Izquierdo, J.R.3
Subirana, M.T.4
Gairin, X.M.5
-
4
-
-
80955180571
-
Orthogonal array formation by human aquaporin-4: examination of neuromyelitis optica-associated aquaporin-4 polymorphisms
-
Crane J.M., Rossi A., Gupta T., Bennett J.L., Verkman A.S. Orthogonal array formation by human aquaporin-4: examination of neuromyelitis optica-associated aquaporin-4 polymorphisms. J. Neuroimmunol. 2011, 236:93-98.
-
(2011)
J. Neuroimmunol.
, vol.236
, pp. 93-98
-
-
Crane, J.M.1
Rossi, A.2
Gupta, T.3
Bennett, J.L.4
Verkman, A.S.5
-
5
-
-
77953582629
-
Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project
-
Cross D.S., Ivacic L.C., Stefanski E.L., McCarty C.A. Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. BMC Genet. 2010, 11:51.
-
(2010)
BMC Genet.
, vol.11
, pp. 51
-
-
Cross, D.S.1
Ivacic, L.C.2
Stefanski, E.L.3
McCarty, C.A.4
-
6
-
-
82455211303
-
Detection of associations with rare and common SNPs for quantitative traits: a nonparametric Bayes-based approach
-
Ding L., Baye T.M., He H., et al. Detection of associations with rare and common SNPs for quantitative traits: a nonparametric Bayes-based approach. BMC Proc. 2011, 5(Suppl. 9).
-
(2011)
BMC Proc.
, vol.5
, Issue.SUPPL. 9
-
-
Ding, L.1
Baye, T.M.2
He, H.3
-
7
-
-
34548299105
-
Risk alleles for multiple sclerosis identified by a genomewide study
-
Hafler D.A., Compston A., Sawcer S., et al. Risk alleles for multiple sclerosis identified by a genomewide study. N. Engl. J. Med. 2007, 357:851-862.
-
(2007)
N. Engl. J. Med.
, vol.357
, pp. 851-862
-
-
Hafler, D.A.1
Compston, A.2
Sawcer, S.3
-
8
-
-
84859135620
-
Correlation of diffusion and metabolic alterations in different clinical forms of multiple sclerosis
-
Hannoun S., Bagory M., Durand-Dubief F., et al. Correlation of diffusion and metabolic alterations in different clinical forms of multiple sclerosis. PLoS One 2012, 7:e32525.
-
(2012)
PLoS One
, vol.7
-
-
Hannoun, S.1
Bagory, M.2
Durand-Dubief, F.3
-
9
-
-
84856369996
-
Molecular outcomes of neuromyelitis optica (NMO)-IgG binding to aquaporin-4 in astrocytes
-
Hinson S.R., Romero M.F., Popescu B.F., et al. Molecular outcomes of neuromyelitis optica (NMO)-IgG binding to aquaporin-4 in astrocytes. Proc. Natl. Acad. Sci. U. S. A. 2012, 109:1245-1250.
-
(2012)
Proc. Natl. Acad. Sci. U. S. A.
, vol.109
, pp. 1245-1250
-
-
Hinson, S.R.1
Romero, M.F.2
Popescu, B.F.3
-
10
-
-
77954849763
-
AQP4 antibodies in neuromyelitis optica: diagnostic and pathogenetic relevance
-
Jarius S., Wildemann B. AQP4 antibodies in neuromyelitis optica: diagnostic and pathogenetic relevance. Nat. Rev. Neurol. 2010, 6:383-392.
-
(2010)
Nat. Rev. Neurol.
, vol.6
, pp. 383-392
-
-
Jarius, S.1
Wildemann, B.2
-
12
-
-
73049089684
-
Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica
-
Kim H.J., Park H.Y., Kim E., et al. Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica. Neurobiol. Dis. 2010, 37:349-355.
-
(2010)
Neurobiol. Dis.
, vol.37
, pp. 349-355
-
-
Kim, H.J.1
Park, H.Y.2
Kim, E.3
-
13
-
-
84860757735
-
Clinical spectrum of CNS aquaporin-4 autoimmunity
-
Kim S.H., Kim W., Li X.F., Jung I.J., Kim H.J. Clinical spectrum of CNS aquaporin-4 autoimmunity. Neurology 2012, 78:1179-1185.
-
(2012)
Neurology
, vol.78
, pp. 1179-1185
-
-
Kim, S.H.1
Kim, W.2
Li, X.F.3
Jung, I.J.4
Kim, H.J.5
-
14
-
-
0021035886
-
Rating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS)
-
Kurtzke J.F. Rating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS). Neurology 1983, 33:1444-1452.
-
(1983)
Neurology
, vol.33
, pp. 1444-1452
-
-
Kurtzke, J.F.1
-
15
-
-
10344250945
-
A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis
-
Lennon V.A., Wingerchuk D.M., Kryzer T.J., et al. A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet 2004, 364:2106-2112.
-
(2004)
Lancet
, vol.364
, pp. 2106-2112
-
-
Lennon, V.A.1
Wingerchuk, D.M.2
Kryzer, T.J.3
-
16
-
-
0035903098
-
Impaired hearing in mice lacking aquaporin-4 water channels
-
Li J., Verkman A.S. Impaired hearing in mice lacking aquaporin-4 water channels. J. Biol. Chem. 2001, 276:31233-31237.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 31233-31237
-
-
Li, J.1
Verkman, A.S.2
-
17
-
-
0036156831
-
Mildly abnormal retinal function in transgenic mice without Muller cell aquaporin-4 water channels
-
Li J., Patil R.V., Verkman A.S. Mildly abnormal retinal function in transgenic mice without Muller cell aquaporin-4 water channels. Invest. Ophthalmol. Vis. Sci. 2002, 43:573-579.
-
(2002)
Invest. Ophthalmol. Vis. Sci.
, vol.43
, pp. 573-579
-
-
Li, J.1
Patil, R.V.2
Verkman, A.S.3
-
18
-
-
51349088616
-
Impaired olfaction in mice lacking aquaporin-4 water channels
-
Lu D.C., Zhang H., Zador Z., Verkman A.S. Impaired olfaction in mice lacking aquaporin-4 water channels. FASEB J. 2008, 22:3216-3223.
-
(2008)
FASEB J.
, vol.22
, pp. 3216-3223
-
-
Lu, D.C.1
Zhang, H.2
Zador, Z.3
Verkman, A.S.4
-
19
-
-
84872671390
-
Preliminary study on the association of AQP4 promoter polymorphism with anti-aquaporin-4 antibody positivity in Southern Han Chinese patients with idiopathic demyelinating disorders of central nervous system
-
Mai W., Hu X., Lu Z., et al. Preliminary study on the association of AQP4 promoter polymorphism with anti-aquaporin-4 antibody positivity in Southern Han Chinese patients with idiopathic demyelinating disorders of central nervous system. J. Neuroimmunol. 2012, 255:75-80.
-
(2012)
J. Neuroimmunol.
, vol.255
, pp. 75-80
-
-
Mai, W.1
Hu, X.2
Lu, Z.3
-
20
-
-
80555143056
-
Genetic analysis of aquaporin-4 in neuromyelitis optica
-
Matiello M., Schaefer-Klein J.L., Hebrink D.D., et al. Genetic analysis of aquaporin-4 in neuromyelitis optica. Neurology 2011, 77:1149-1155.
-
(2011)
Neurology
, vol.77
, pp. 1149-1155
-
-
Matiello, M.1
Schaefer-Klein, J.L.2
Hebrink, D.D.3
-
21
-
-
58149231390
-
*0501 allele with anti-aquaporin-4 antibody positivity in Japanese patients with idiopathic central nervous system demyelinating disorders
-
*0501 allele with anti-aquaporin-4 antibody positivity in Japanese patients with idiopathic central nervous system demyelinating disorders. Tissue Antigens 2009, 73:171-176.
-
(2009)
Tissue Antigens
, vol.73
, pp. 171-176
-
-
Matsushita, T.1
Matsuoka, T.2
Isobe, N.3
-
22
-
-
44149127481
-
PGA: power calculator for case-control genetic association analyses
-
Menashe I., Rosenberg P.S., Chen B.E. PGA: power calculator for case-control genetic association analyses. BMC Genet. 2008, 9:36.
-
(2008)
BMC Genet.
, vol.9
, pp. 36
-
-
Menashe, I.1
Rosenberg, P.S.2
Chen, B.E.3
-
23
-
-
34249711828
-
Loss of aquaporin 4 in lesions of neuromyelitis optica: distinction from multiple sclerosis
-
Misu T., Fujihara K., Kakita A., et al. Loss of aquaporin 4 in lesions of neuromyelitis optica: distinction from multiple sclerosis. Brain 2007, 130:1224-1234.
-
(2007)
Brain
, vol.130
, pp. 1224-1234
-
-
Misu, T.1
Fujihara, K.2
Kakita, A.3
-
24
-
-
82855165043
-
D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness
-
Nicchia G.P., Ficarella R., Rossi A., et al. D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness. Neuroscience 2011, 197:80-88.
-
(2011)
Neuroscience
, vol.197
, pp. 80-88
-
-
Nicchia, G.P.1
Ficarella, R.2
Rossi, A.3
-
25
-
-
0031022918
-
Specialized membrane domains for water transport in glial cells: high-resolution immunogold cytochemistry of aquaporin-4 in rat brain
-
Nielsen S., Nagelhus E.A., Amiry-Moghaddam M., et al. Specialized membrane domains for water transport in glial cells: high-resolution immunogold cytochemistry of aquaporin-4 in rat brain. J. Neurosci. 1997, 17:171-180.
-
(1997)
J. Neurosci.
, vol.17
, pp. 171-180
-
-
Nielsen, S.1
Nagelhus, E.A.2
Amiry-Moghaddam, M.3
-
26
-
-
84866075947
-
Neuromyelitis optica: an antibody-mediated disorder of the central nervous system
-
Oh J., Levy M. Neuromyelitis optica: an antibody-mediated disorder of the central nervous system. Neurol. Res. Int. 2012, 2012:460825.
-
(2012)
Neurol. Res. Int.
, vol.2012
, pp. 460825
-
-
Oh, J.1
Levy, M.2
-
27
-
-
77953810698
-
Aquaporin-4 gene variation and sudden infant death syndrome
-
Opdal S.H., Vege A., Stray-Pedersen A., Rognum T.O. Aquaporin-4 gene variation and sudden infant death syndrome. Pediatr. Res. 2010, 68:48-51.
-
(2010)
Pediatr. Res.
, vol.68
, pp. 48-51
-
-
Opdal, S.H.1
Vege, A.2
Stray-Pedersen, A.3
Rognum, T.O.4
-
28
-
-
84861138201
-
Aquaporin 4 and neuromyelitis optica
-
Papadopoulos M.C., Verkman A. Aquaporin 4 and neuromyelitis optica. Lancet Neurol. 2012, 11:535-544.
-
(2012)
Lancet Neurol.
, vol.11
, pp. 535-544
-
-
Papadopoulos, M.C.1
Verkman, A.2
-
29
-
-
81055145433
-
Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants
-
Park J.H., Gail M.H., Weinberg C.R., et al. Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants. Proc. Natl. Acad. Sci. U. S. A. 2011, 108:18026-18031.
-
(2011)
Proc. Natl. Acad. Sci. U. S. A.
, vol.108
, pp. 18026-18031
-
-
Park, J.H.1
Gail, M.H.2
Weinberg, C.R.3
-
30
-
-
84255194782
-
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci
-
Patsopoulos N.A., Esposito F., Reischl J., et al. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Ann. Neurol. 2011, 70:897-912.
-
(2011)
Ann. Neurol.
, vol.70
, pp. 897-912
-
-
Patsopoulos, N.A.1
Esposito, F.2
Reischl, J.3
-
31
-
-
28544436950
-
Diagnostic criteria for multiple sclerosis: 2005 revisions to the "McDonald Criteria"
-
Polman C.H., Reingold S.C., Edan G., et al. Diagnostic criteria for multiple sclerosis: 2005 revisions to the "McDonald Criteria". Ann. Neurol. 2005, 58:840-846.
-
(2005)
Ann. Neurol.
, vol.58
, pp. 840-846
-
-
Polman, C.H.1
Reingold, S.C.2
Edan, G.3
-
32
-
-
0032578454
-
Direct immunogold labeling of aquaporin-4 in square arrays of astrocyte and ependymocyte plasma membranes in rat brain and spinal cord
-
Rash J.E., Yasumura T., Hudson C.S., Agre P., Nielsen S. Direct immunogold labeling of aquaporin-4 in square arrays of astrocyte and ependymocyte plasma membranes in rat brain and spinal cord. Proc. Natl. Acad. Sci. U. S. A. 1998, 95:11981-11986.
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, pp. 11981-11986
-
-
Rash, J.E.1
Yasumura, T.2
Hudson, C.S.3
Agre, P.4
Nielsen, S.5
-
33
-
-
33846507195
-
Absence of aquaporin-4 expression in lesions of neuromyelitis optica but increased expression in multiple sclerosis lesions and normal-appearing white matter
-
Sinclair C., Kirk J., Herron B., Fitzgerald U., McQuaid S. Absence of aquaporin-4 expression in lesions of neuromyelitis optica but increased expression in multiple sclerosis lesions and normal-appearing white matter. Acta Neuropathol. 2007, 113:187-194.
-
(2007)
Acta Neuropathol.
, vol.113
, pp. 187-194
-
-
Sinclair, C.1
Kirk, J.2
Herron, B.3
Fitzgerald, U.4
McQuaid, S.5
-
34
-
-
48049084175
-
Novel variants in human Aquaporin-4 reduce cellular water permeability
-
Sorani M.D., Zador Z., Hurowitz E., et al. Novel variants in human Aquaporin-4 reduce cellular water permeability. Hum. Mol. Genet. 2008, 17:2379-2389.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2379-2389
-
-
Sorani, M.D.1
Zador, Z.2
Hurowitz, E.3
-
35
-
-
84863638955
-
Sample size estimation and power analysis for clinical research studies
-
Suresh K., Chandrashekara S. Sample size estimation and power analysis for clinical research studies. J. Hum. Reprod. Sci. 2012, 5:7-13.
-
(2012)
J. Hum. Reprod. Sci.
, vol.5
, pp. 7-13
-
-
Suresh, K.1
Chandrashekara, S.2
-
36
-
-
84857046812
-
Interleukin 17 gene polymorphism is associated with anti-aquaporin 4 antibody-positive neuromyelitis optica in the Southern Han Chinese-a case control study
-
Wang H., Zhong X., Wang K., et al. Interleukin 17 gene polymorphism is associated with anti-aquaporin 4 antibody-positive neuromyelitis optica in the Southern Han Chinese-a case control study. J. Neurol. Sci. 2012, 314:26-28.
-
(2012)
J. Neurol. Sci.
, vol.314
, pp. 26-28
-
-
Wang, H.1
Zhong, X.2
Wang, K.3
-
37
-
-
33745334334
-
Revised diagnostic criteria for neuromyelitis optica
-
Wingerchuk D.M., Lennon V.A., Pittock S.J., Lucchinetti C.F., Weinshenker B.G. Revised diagnostic criteria for neuromyelitis optica. Neurology 2006, 66:1485-1489.
-
(2006)
Neurology
, vol.66
, pp. 1485-1489
-
-
Wingerchuk, D.M.1
Lennon, V.A.2
Pittock, S.J.3
Lucchinetti, C.F.4
Weinshenker, B.G.5
-
38
-
-
34547791832
-
The spectrum of neuromyelitis optica
-
Wingerchuk D.M., Lennon V.A., Lucchinetti C.F., Pittock S.J., Weinshenker B.G. The spectrum of neuromyelitis optica. Lancet Neurol. 2007, 6:805-815.
-
(2007)
Lancet Neurol.
, vol.6
, pp. 805-815
-
-
Wingerchuk, D.M.1
Lennon, V.A.2
Lucchinetti, C.F.3
Pittock, S.J.4
Weinshenker, B.G.5
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