-
1
-
-
2042437650
-
International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome
-
Lander ES, Linton LM, Birren B, et al; International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature. 2001;409(6822):860-921.
-
(2001)
Nature
, vol.409
, Issue.6822
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
-
2
-
-
0035895505
-
The sequence of the human genome
-
Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science. 2001;291(5507):1304-1351.
-
(2001)
Science
, vol.291
, Issue.5507
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
-
3
-
-
79959503826
-
The International HapMap Project
-
International HapMap Consortium
-
International HapMap Consortium. The International HapMap Project. Nature. 2003;426(6968):789-796.
-
(2003)
Nature
, vol.426
, Issue.6968
, pp. 789-796
-
-
-
4
-
-
37749031255
-
Next-generation sequencing transforms today's biology
-
Schuster SC. Next-generation sequencing transforms today's biology. Nat Methods. 2008;5(1):16-18.
-
(2008)
Nat Methods
, vol.5
, Issue.1
, pp. 16-18
-
-
Schuster, S.C.1
-
5
-
-
58249138817
-
Generations of sequencing technologies
-
Pettersson E, Lundeberg J, Ahmadian A. Generations of sequencing technologies. Genomics. 2009;93(2):105-111.
-
(2009)
Genomics
, vol.93
, Issue.2
, pp. 105-111
-
-
Pettersson, E.1
Lundeberg, J.2
Ahmadian, A.3
-
6
-
-
0033588184
-
Narcolepsy in orexin knockout mice: Molecular genetics of sleep regulation
-
Chemelli RM, Willie JT, Sinton CM, et al. Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. Cell. 1999;98(4):437-451.
-
(1999)
Cell
, vol.98
, Issue.4
, pp. 437-451
-
-
Chemelli, R.M.1
Willie, J.T.2
Sinton, C.M.3
-
7
-
-
0033529520
-
The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene
-
DOI 10.1016/S0092-8674(00)81965-0
-
Lin L, Faraco J, Li R, et al. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell. 1999;98(3):365-376. (Pubitemid 29380571)
-
(1999)
Cell
, vol.98
, Issue.3
, pp. 365-376
-
-
Lin, L.1
Faraco, J.2
Li, R.3
Kadotani, H.4
Rogers, W.5
Lin, X.6
Qiu, X.7
De, J.P.J.8
Nishino, S.9
Mignot, E.10
-
8
-
-
0033826856
-
A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains
-
Peyron C, Faraco J, Rogers W, et al. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med. 2000;6(9):991-997.
-
(2000)
Nat Med
, vol.6
, Issue.9
, pp. 991-997
-
-
Peyron, C.1
Faraco, J.2
Rogers, W.3
-
9
-
-
27644457084
-
Hypothalamic regulation of sleep and circadian rhythms
-
DOI 10.1038/nature04284, PII N04284
-
Saper CB, Scammell TE, Lu J. Hypothalamic regulation of sleep and circadian rhythms. Nature. 2005;437(7063):1257-1263. (Pubitemid 41568665)
-
(2005)
Nature
, vol.437
, Issue.7063
, pp. 1257-1263
-
-
Saper, C.B.1
Scammell, T.E.2
Lu, J.3
-
10
-
-
0034846670
-
Low cerebrospinal fluid hypocretin (orexin) and altered energy homeostasis in human narcolepsy
-
DOI 10.1002/ana.1130
-
Nishino S, Ripley B, Overeem S, et al. Low cerebrospinal fluid hypocretin (orexin) and altered energy homeostasis in human narcolepsy. Ann Neurol. 2001;50(3):381-388. (Pubitemid 32848741)
-
(2001)
Annals of Neurology
, vol.50
, Issue.3
, pp. 381-388
-
-
Nishino, S.1
Ripley, B.2
Overeem, S.3
Nevsimalova, S.4
Lammers, G.J.5
Vankova, J.6
Okun, M.7
Rogers, W.8
Brooks, S.9
Mignot, E.10
-
11
-
-
33846979755
-
Promotion of sleep by targeting the orexin system in rats, dogs and humans
-
Brisbare-Roch C, Dingemanse J, Koberstein R, et al. Promotion of sleep by targeting the orexin system in rats, dogs and humans. Nat Med. 2007;13(2):150-155.
-
(2007)
Nat Med
, vol.13
, Issue.2
, pp. 150-155
-
-
Brisbare-Roch, C.1
Dingemanse, J.2
Koberstein, R.3
-
12
-
-
74549127520
-
Almorexant, a dual orexin receptor antagonist for the treatment of insomnia
-
Neubauer DN. Almorexant, a dual orexin receptor antagonist for the treatment of insomnia. Curr Opin Investig Drugs. 2010;11(1):101-110.
-
(2010)
Curr Opin Investig Drugs
, vol.11
, Issue.1
, pp. 101-110
-
-
Neubauer, D.N.1
-
13
-
-
4344609367
-
Sleep, sleep disorders and hypocretin (orexin)
-
Mignot E. Sleep, sleep disorders and hypocretin (orexin). Sleep Med. 2004;5(suppl 1):S2-S8.
-
(2004)
Sleep Med
, vol.5
, Issue.SUPPL. 1
-
-
Mignot, E.1
-
14
-
-
65749118729
-
Recent advances in the diagnosis, genetics and treatment of restless legs syndrome
-
Trenkwalder C, Högl B, Winkelmann J. Recent advances in the diagnosis, genetics and treatment of restless legs syndrome. J Neurol. 2009;256(4):539-553.
-
(2009)
J Neurol
, vol.256
, Issue.4
, pp. 539-553
-
-
Trenkwalder, C.1
Högl, B.2
Winkelmann, J.3
-
15
-
-
33750308030
-
Genetic basis for sleep regulation and sleep disorders
-
Raizen DM, Mason TB, Pack AI. Genetic basis for sleep regulation and sleep disorders. Semin Neurol. 2006;26(5):467-483.
-
(2006)
Semin Neurol
, vol.26
, Issue.5
, pp. 467-483
-
-
Raizen, D.M.1
Mason, T.B.2
Pack, A.I.3
-
16
-
-
77957878652
-
Approaches to unravel the genetics of sleep
-
Bamne MN, Mansour H, Monk TH, Buysse DJ, Nimgaonkar VL. Approaches to unravel the genetics of sleep. Sleep Med Rev. 2010;14(6):397-404.
-
(2010)
Sleep Med Rev
, vol.14
, Issue.6
, pp. 397-404
-
-
Bamne, M.N.1
Mansour, H.2
Monk, T.H.3
Buysse, D.J.4
Nimgaonkar, V.L.5
-
17
-
-
68949163760
-
Genetic aspects of normal and disturbed sleep
-
Tafti M. Genetic aspects of normal and disturbed sleep. Sleep Med. 2009;10(suppl 1):S17-S21.
-
(2009)
Sleep Med
, vol.10
, Issue.SUPPL. 1
-
-
Tafti, M.1
-
18
-
-
0031912090
-
Genetic and familial aspects of narcolepsy
-
Mignot E. Genetic and familial aspects of narcolepsy. Neurology. 1998;50(2)( suppl 1):S16-S22.
-
(1998)
Neurology
, vol.50
, Issue.2 SUPPL. 1
-
-
Mignot, E.1
-
19
-
-
0034649387
-
Restless legs syndrome in monozygotic twins: Clinical correlates
-
Ondo WG, Vuong KD, Wang Q. Restless legs syndrome in monozygotic twins: clinical correlates. Neurology. 2000;55(9):1404-1406.
-
(2000)
Neurology
, vol.55
, Issue.9
, pp. 1404-1406
-
-
Ondo, W.G.1
Vuong, K.D.2
Wang, Q.3
-
20
-
-
34248161525
-
Canadian restless legs syndrome twin study
-
DOI 10.1212/01.wnl.0000261016.90374.fd, PII 0000611420070508000016
-
Xiong L, Jang K, Montplaisir J, et al. Canadian restless legs syndrome twin study. Neurology. 2007;68(19):1631-1633. (Pubitemid 46717991)
-
(2007)
Neurology
, vol.68
, Issue.19
, pp. 1631-1633
-
-
Xiong, L.1
Jang, K.2
Montplaisir, J.3
Levchenko, A.4
Thibodeau, P.5
Gaspar, C.6
Turecki, G.7
Rouleau, G.A.8
-
21
-
-
0025184217
-
Evidence for genetic influences on sleep disturbance and sleep pattern in twins
-
Heath AC, Kendler KS, Eaves LJ, Martin NG. Evidence for genetic influences on sleep disturbance and sleep pattern in twins. Sleep. 1990;13(4):318-335.
-
(1990)
Sleep
, vol.13
, Issue.4
, pp. 318-335
-
-
Heath, A.C.1
Kendler, K.S.2
Eaves, L.J.3
Martin, N.G.4
-
22
-
-
0028141512
-
Insomnia in Vietnam era veteran twins: Influence of genes and combat experience
-
McCarren M, Goldberg J, Ramakrishnan V, Fabsitz R. Insomnia in Vietnam era veteran twins: influence of genes and combat experience. Sleep. 1994;17(5):456-461. (Pubitemid 24271521)
-
(1994)
Sleep
, vol.17
, Issue.5
, pp. 456-461
-
-
McCarren, M.1
Goldberg, J.2
Ramakrishnan, V.3
Fabsitz, R.4
-
23
-
-
33646734050
-
Genetic and environmental influences on insomnia, daytime sleepiness, and obesity in twins
-
Watson NF, Goldberg J, Arguelles L, Buchwald D. Genetic and environmental influences on insomnia, daytime sleepiness, and obesity in twins. Sleep. 2006;29(5):645-649.
-
(2006)
Sleep
, vol.29
, Issue.5
, pp. 645-649
-
-
Watson, N.F.1
Goldberg, J.2
Arguelles, L.3
Buchwald, D.4
-
24
-
-
65949104586
-
Genomewide association studies and human disease
-
Hardy J, Singleton A. Genomewide association studies and human disease. N Engl J Med. 2009;360(17):1759-1768.
-
(2009)
N Engl J Med
, vol.360
, Issue.17
, pp. 1759-1768
-
-
Hardy, J.1
Singleton, A.2
-
25
-
-
62149091854
-
A neurologist's guide to genome-wide association studies
-
Mullen SA, Crompton DE, Carney PW, Helbig I, Berkovic SF. A neurologist's guide to genome-wide association studies. Neurology. 2009;72(6):558-565.
-
(2009)
Neurology
, vol.72
, Issue.6
, pp. 558-565
-
-
Mullen, S.A.1
Crompton, D.E.2
Carney, P.W.3
Helbig, I.4
Berkovic, S.F.5
-
26
-
-
77952574849
-
Uncovering the roles of rare variants in common disease through whole-genome sequencing
-
Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet. 2010;11(6):415-425.
-
(2010)
Nat Rev Genet
, vol.11
, Issue.6
, pp. 415-425
-
-
Cirulli, E.T.1
Goldstein, D.B.2
-
27
-
-
77953811255
-
New approaches to population stratification in genome-wide association studies
-
Price AL, Zaitlen NA, Reich D, Patterson N. New approaches to population stratification in genome-wide association studies. Nat Rev Genet. 2010;11(7):459-463.
-
(2010)
Nat Rev Genet
, vol.11
, Issue.7
, pp. 459-463
-
-
Price, A.L.1
Zaitlen, N.A.2
Reich, D.3
Patterson, N.4
-
28
-
-
20244380171
-
Complement factor H polymorphism in age-related macular degeneration
-
Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308(5720):385-389.
-
(2005)
Science
, vol.308
, Issue.5720
, pp. 385-389
-
-
Klein, R.J.1
Zeiss, C.2
Chew, E.Y.3
-
29
-
-
20244388812
-
Complement factor H variant increases the risk of age-related macular degeneration
-
Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308(5720):419-421.
-
(2005)
Science
, vol.308
, Issue.5720
, pp. 419-421
-
-
Haines, J.L.1
Hauser, M.A.2
Schmidt, S.3
-
30
-
-
17244379811
-
Complement factor H polymorphism and age-related macular degeneration
-
DOI 10.1126/science.1110189
-
Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and agerelated macular degeneration. Science. 2005;308(5720):421-424. (Pubitemid 40530082)
-
(2005)
Science
, vol.308
, Issue.5720
, pp. 421-424
-
-
Edwards, A.O.1
Ritter III, R.2
Abel, K.J.3
Manning, A.4
Panhuysen, C.5
Farrer, L.A.6
-
31
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461(7265):747-753.
-
(2009)
Nature
, vol.461
, Issue.7265
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
-
32
-
-
65949107547
-
Common genetic variation and human traits
-
Goldstein DB. Common genetic variation and human traits. N Engl J Med. 2009;360(17):1696-1698.
-
(2009)
N Engl J Med
, vol.360
, Issue.17
, pp. 1696-1698
-
-
Goldstein, D.B.1
-
33
-
-
0035208888
-
Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q
-
DOI 10.1086/324649
-
Desautels A, Turecki G, Montplaisir J, Sequeira A, Verner A, Rouleau GA. Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet. 2001;69(6):1266-1270. (Pubitemid 33124208)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.6
, pp. 1266-1270
-
-
Desautels, A.1
Turecki, G.2
Montplaisir, J.3
Sequeira, A.4
Verner, A.5
Rouleau, G.A.6
-
34
-
-
0038691989
-
Autosomal dominant restless legs syndrome maps on chromosome 14q
-
DOI 10.1093/brain/awg137
-
Bonati MT, Ferini-Strambi L, Aridon P, Oldani A, Zucconi M, Casari G. Autosomal dominant restless legs syndrome maps on chromosome 14q. Brain. 2003;126(pt 6):1485-1492. (Pubitemid 36644391)
-
(2003)
Brain
, vol.126
, Issue.6
, pp. 1485-1492
-
-
Bonati, M.T.1
Ferini-Strambi, L.2
Aridon, P.3
Oldani, A.4
Zucconi, M.5
Casari, G.6
-
35
-
-
2342527865
-
Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p
-
DOI 10.1086/420772
-
Chen S, Ondo WG, Rao S, Li L, Chen Q, Wang Q. Genomewide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9p. Am J Hum Genet. 2004;74(5):876-885. (Pubitemid 38568962)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.5
, pp. 876-885
-
-
Chen, S.1
Ondo, W.G.2
Rao, S.3
Li, L.4
Chen, Q.5
Wang, Q.6
-
36
-
-
33749005651
-
Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate
-
DOI 10.1086/507875
-
Pichler I, Marroni F, Volpato CB, et al. Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. Am J Hum Genet. 2006;79(4):716-723. (Pubitemid 44452749)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.4
, pp. 716-723
-
-
Pichler, I.1
Marroni, F.2
Volpato, C.B.3
Gusella, J.F.4
Klein, C.5
Casari, G.6
De, G.A.7
Pramstaller, P.P.8
-
37
-
-
33748696387
-
A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13
-
DOI 10.1212/01.wnl.0000233991.20410.b6, PII 0000611420060912000042
-
Levchenko A, Provost S, Montplaisir JY, et al. A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13. Neurology. 2006;67(5):900-901. (Pubitemid 44394216)
-
(2006)
Neurology
, vol.67
, Issue.5
, pp. 900-901
-
-
Levchenko, A.1
Provost, S.2
Montplaisir, J.Y.3
Xiong, L.4
St-Onge, J.5
Thibodeau, P.6
Riviere, J.B.7
Desautels, A.8
Turecki, G.9
Dube, M.P.10
Rouleau, G.A.11
-
38
-
-
42149093971
-
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13
-
Kemlink D, Plazzi G, Vetrugno R, et al. Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. Neurogenetics. 2008;9(2):75-82.
-
(2008)
Neurogenetics
, vol.9
, Issue.2
, pp. 75-82
-
-
Kemlink, D.1
Plazzi, G.2
Vetrugno, R.3
-
39
-
-
34547926806
-
A genetic risk factor for periodic limb movements in sleep
-
Stefansson H, Rye DB, Hicks A, et al. A genetic risk factor for periodic limb movements in sleep. N Engl J Med. 2007; 357(7):639-647.
-
(2007)
N Engl J Med
, vol.357
, Issue.7
, pp. 639-647
-
-
Stefansson, H.1
Rye, D.B.2
Hicks, A.3
-
40
-
-
34447259890
-
Therapy in restless legs
-
Nordlander NB. Therapy in restless legs. Acta Med Scand. 1953;145(6):453-457.
-
(1953)
Acta Med Scand
, vol.145
, Issue.6
, pp. 453-457
-
-
Nordlander, N.B.1
-
41
-
-
84882368341
-
Restless legs syndrome
-
Ekbom KA. Restless legs syndrome. Neurology. 1960;10:868-873.
-
(1960)
Neurology
, vol.10
, pp. 868-873
-
-
Ekbom, K.A.1
-
42
-
-
34547497308
-
Genomewide association study of restless legs syndrome identifies common variants in three genomic regions
-
Winkelmann J, Schormair B, Lichtner P, et al. Genomewide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet. 2007;39(8):1000-1006.
-
(2007)
Nat Genet
, vol.39
, Issue.8
, pp. 1000-1006
-
-
Winkelmann, J.1
Schormair, B.2
Lichtner, P.3
-
43
-
-
0033604502
-
Conserved regulation of proximodistal limb axis development by Meis1/Hth
-
Mercader N, Leonardo E, Azpiazu N, et al. Conserved regulation of proximodistal limb axis development by Meis1/Hth. Nature. 1999;402(6760):425- 429. (Pubitemid 129544832)
-
(1999)
Nature
, vol.402
, Issue.6760
, pp. 425-429
-
-
Mercader, N.1
Leonardo, E.2
Azpiazu, N.3
Serrano, A.4
Morata, G.5
Martinez-A, C.6
Torres, M.7
-
44
-
-
13544270279
-
Corl1, a novel neuronal lineage-specific transcriptional corepressor for the homeodomain transcription factor Lbx1
-
DOI 10.1074/jbc.M411652200
-
Mizuhara E, Nakatani T, Minaki Y, Sakamoto Y, Ono Y. Corl1, a novel neuronal lineage-specific transcriptional corepressor for the homeodomain transcription factor Lbx1. J Biol Chem. 2005;280(5):3645-3655. (Pubitemid 40223832)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.5
, pp. 3645-3655
-
-
Mizuhara, E.1
Nakatani, T.2
Minaki, Y.3
Sakamoto, Y.4
Ono, Y.5
-
45
-
-
61849084830
-
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels
-
Xiong L, Catoire H, Dion P, et al. MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels. Hum Mol Genet. 2009;18(6):1065-1074.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.6
, pp. 1065-1074
-
-
Xiong, L.1
Catoire, H.2
Dion, P.3
-
46
-
-
38549107216
-
A genetic risk factor for periodic limb movements in sleep [7]
-
DOI 10.1056/NEJMc072518
-
Vilariño-Güell C, Farrer MJ, Lin SC. A genetic risk factor for periodic limb movements in sleep. N Engl J Med. 2008;358(4):425-427. (Pubitemid 351159253)
-
(2008)
New England Journal of Medicine
, vol.358
, Issue.4
, pp. 425-427
-
-
Vilarino-Guell, C.1
Farrer, M.J.2
Lin, S.-C.3
-
47
-
-
66249101992
-
Replication of restless legs syndrome loci in three European populations
-
Kemlink D, Polo O, Frauscher B, et al. Replication of restless legs syndrome loci in three European populations. J Med Genet. 2009;46(5):315-318.
-
(2009)
J Med Genet
, vol.46
, Issue.5
, pp. 315-318
-
-
Kemlink, D.1
Polo, O.2
Frauscher, B.3
-
48
-
-
48349142470
-
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
-
Schormair B, Kemlink D, Roeske D, et al. PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat Genet. 2008;40(8):946-948.
-
(2008)
Nat Genet
, vol.40
, Issue.8
, pp. 946-948
-
-
Schormair, B.1
Kemlink, D.2
Roeske, D.3
-
49
-
-
33747037830
-
RLS3: Fine-mapping of an autosomal dominant locus in a family with intrafamilial heterogeneity
-
DOI 10.1212/01.wnl.0000224886.65213.b5, PII 0000611420060725000033
-
Liebetanz KM, Winkelmann J, Trenkwalder C, et al. RLS3: fine-mapping of an autosomal dominant locus in a family with intrafamilial heterogeneity. Neurology. 2006;67(2):320-321. (Pubitemid 44305424)
-
(2006)
Neurology
, vol.67
, Issue.2
, pp. 320-321
-
-
Liebetanz, K.M.1
Winkelmann, J.2
Trenkwalder, C.3
Putz, B.4
Dichgans, M.5
Gasser, T.6
Muller-Myhsok, B.7
-
50
-
-
33847735100
-
Family-based association study of the restless legs syndrome loci 2 and 3 in a European population
-
Kemlink D, Polo O, Montagna P, et al. Family-based association study of the restless legs syndrome loci 2 and 3 in a European population. Mov Disord. 2007;22(2):207-212.
-
(2007)
Mov Disord
, vol.22
, Issue.2
, pp. 207-212
-
-
Kemlink, D.1
Polo, O.2
Montagna, P.3
-
51
-
-
40349112722
-
Evidence for linkage of restless legs syndrome to chromosome 9p: Are there two distinct loci?
-
Lohmann-Hedrich K, Neumann A, Kleensang A, et al. Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci? Neurology. 2008;70(9):686-694.
-
(2008)
Neurology
, vol.70
, Issue.9
, pp. 686-694
-
-
Lohmann-Hedrich, K.1
Neumann, A.2
Kleensang, A.3
-
52
-
-
43049183671
-
Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome
-
Winkelmann J, Lichtner P, Schormair B, et al. Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome. Mov Disord. 2008;23(3):350-358.
-
(2008)
Mov Disord
, vol.23
, Issue.3
, pp. 350-358
-
-
Winkelmann, J.1
Lichtner, P.2
Schormair, B.3
-
53
-
-
20144387708
-
Restless legs syndrome: Confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity
-
Desautels A, Turecki G, Montplaisir J, et al. Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity. Arch Neurol. 2005;62(4):591-596.
-
(2005)
Arch Neurol
, vol.62
, Issue.4
, pp. 591-596
-
-
Desautels, A.1
Turecki, G.2
Montplaisir, J.3
-
54
-
-
33244486964
-
Evidence for further genetic heterogeneity and confirmation of RLS-1 in restless legs syndrome
-
DOI 10.1002/mds.20627
-
Winkelmann J, Lichtner P, Pütz B, et al. Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome. Mov Disord. 2006;21(1):28-33. (Pubitemid 43273746)
-
(2006)
Movement Disorders
, vol.21
, Issue.1
, pp. 28-33
-
-
Winkelmann, J.1
Lichtner, P.2
Putz, B.3
Trenkwalder, C.4
Hauk, S.5
Meitinger, T.6
Strom, T.7
Muller-Myhsok, B.8
-
55
-
-
66249111509
-
No NO, no pain? The role of nitric oxide and cGMP in spinal pain processing
-
Schmidtko A, Tegeder I, Geisslinger G. No NO, no pain? The role of nitric oxide and cGMP in spinal pain processing. Trends Neurosci. 2009;32(6):339-346.
-
(2009)
Trends Neurosci
, vol.32
, Issue.6
, pp. 339-346
-
-
Schmidtko, A.1
Tegeder, I.2
Geisslinger, G.3
-
56
-
-
55049121064
-
Variant between CPT1B and CHKB associated with susceptibility to narcolepsy
-
Miyagawa T, Kawashima M, Nishida N, et al. Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. Nat Genet. 2008;40(11):1324-1328.
-
(2008)
Nat Genet
, vol.40
, Issue.11
, pp. 1324-1328
-
-
Miyagawa, T.1
Kawashima, M.2
Nishida, N.3
-
57
-
-
0021713242
-
Genetic markers in narcolepsy
-
Langdon N, Welsh KI, van Dam M, Vaughan RW, Parkes D. Genetic markers in narcolepsy. Lancet. 1984;324(8413):1178-1180.
-
(1984)
Lancet
, vol.324
, Issue.8413
, pp. 1178-1180
-
-
Langdon, N.1
Welsh, K.I.2
Van Dam, M.3
Vaughan, R.W.4
Parkes, D.5
-
58
-
-
33646007677
-
Fasting-induced reduction in locomotor activity and reduced response of orexin neurons in carnitine-deficient mice
-
Yoshida G, Li MX, Horiuchi M, et al. Fasting-induced reduction in locomotor activity and reduced response of orexin neurons in carnitine-deficient mice. Neurosci Res. 2006;55(1):78-86.
-
(2006)
Neurosci Res
, vol.55
, Issue.1
, pp. 78-86
-
-
Yoshida, G.1
Li, M.X.2
Horiuchi, M.3
-
59
-
-
40449085262
-
Reduced carnitine level causes death from hypoglycemia: Possible involvement of suppression of hypothalamic orexin expression during weaning period
-
Kuwajima M, Fujihara H, Sei H, et al. Reduced carnitine level causes death from hypoglycemia: possible involvement of suppression of hypothalamic orexin expression during weaning period. Endocr J. 2007;54(6):911-925.
-
(2007)
Endocr J
, vol.54
, Issue.6
, pp. 911-925
-
-
Kuwajima, M.1
Fujihara, H.2
Sei, H.3
-
60
-
-
0030907699
-
Effects of CDP-choline treatment on neurobehavioral deficits after TBI and on hippocampal and neocortical acetylcholine release
-
Dixon CE, Ma X, Marion DW. Effects of CDP-choline treatment on neurobehavioral deficits after TBI and on hippocampal and neocortical acetylcholine release. J Neurotrauma. 1997;14(3):161-169. (Pubitemid 27174633)
-
(1997)
Journal of Neurotrauma
, vol.14
, Issue.3
, pp. 161-169
-
-
Dixon, C.E.1
Ma, X.2
Marion, D.W.3
-
61
-
-
66649111903
-
Narcolepsy is strongly associated with the T-cell receptor alpha locus
-
corrected 2009;41(7):859
-
Hallmayer J, Faraco J, Lin L, et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet. 2009;41(6):708-711, corrected 2009;41(7):859.
-
(2009)
Nat Genet
, vol.41
, Issue.6
, pp. 708-711
-
-
Hallmayer, J.1
Faraco, J.2
Lin, L.3
-
62
-
-
77956633514
-
Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy
-
Hor H, Kutalik Z, Dauvilliers Y, et al. Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nature Genetics. 2010;42:786-789.
-
(2010)
Nature Genetics
, vol.42
, pp. 786-789
-
-
Hor, H.1
Kutalik, Z.2
Dauvilliers, Y.3
-
63
-
-
34347335667
-
Guilt beyond a reasonable doubt
-
Altshuler D, Daly M. Guilt beyond a reasonable doubt. Nat Genet. 2007;39(7):813-815.
-
(2007)
Nat Genet
, vol.39
, Issue.7
, pp. 813-815
-
-
Altshuler, D.1
Daly, M.2
-
64
-
-
45849116501
-
Conservation of sleep: Insights from non-mammalian model systems
-
Zimmerman JE, Naidoo N, Raizen DM, Pack AI. Conservation of sleep: insights from non-mammalian model systems. Trends Neurosci. 2008;31(7):371-376.
-
(2008)
Trends Neurosci
, vol.31
, Issue.7
, pp. 371-376
-
-
Zimmerman, J.E.1
Naidoo, N.2
Raizen, D.M.3
Pack, A.I.4
-
65
-
-
48149101920
-
Unearthing the phylogenetic roots of sleep
-
Allada R, Siegel JM. Unearthing the phylogenetic roots of sleep. Curr Biol. 2008;18(15):R670-R679.
-
(2008)
Curr Biol
, vol.18
, Issue.15
-
-
Allada, R.1
Siegel, J.M.2
-
66
-
-
35648976615
-
Characterization of sleep in zebrafish and insomnia in hypocretin receptor mutants
-
Yokogawa T, Marin W, Faraco J, et al. Characterization of sleep in zebrafish and insomnia in hypocretin receptor mutants. PLoS Biol. 2007;5(10):e277.
-
(2007)
PLoS Biol
, vol.5
, Issue.10
-
-
Yokogawa, T.1
Marin, W.2
Faraco, J.3
-
67
-
-
33845728490
-
Hypocretin/orexin overexpression induces an insomnia-like phenotype in zebrafish
-
DOI 10.1523/JNEUROSCI.4332-06.2006
-
Prober DA, Rihel J, Onah AA, Sung RJ, Schier AF. Hypocretin/ orexin overexpression induces an insomnia-like phenotype in zebrafish. J Neurosci. 2006;26(51):13400-13410. (Pubitemid 46011651)
-
(2006)
Journal of Neuroscience
, vol.26
, Issue.51
, pp. 13400-13410
-
-
Prober, D.A.1
Rihel, J.2
Onah, A.A.3
Sung, R.-J.4
Schier, A.F.5
-
68
-
-
15844420887
-
Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome
-
DOI 10.1038/nature03453
-
Xu Y, Padiath QS, Shapiro RE, et al. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature. 2005;434(7033):640-644. (Pubitemid 40488555)
-
(2005)
Nature
, vol.434
, Issue.7033
, pp. 640-644
-
-
Xu, Y.1
Padiath, Q.S.2
Shapiro, R.E.3
Jones, C.R.4
Wu, S.C.5
Saigoh, N.6
Saigoh, K.7
Ptacek, L.J.8
Fu, Y.-H.9
-
69
-
-
33846005528
-
Modeling of a Human Circadian Mutation Yields Insights into Clock Regulation by PER2
-
DOI 10.1016/j.cell.2006.11.043, PII S0092867406015911
-
Xu Y, Toh KL, Jones CR, Shin JY, Fu YH, Ptácek LJ. Modeling of a human circadian mutation yields insights into clock regulation by PER2. Cell. 2007;128(1):59-70. (Pubitemid 46048889)
-
(2007)
Cell
, vol.128
, Issue.1
, pp. 59-70
-
-
Xu, Y.1
Toh, K.L.2
Jones, C.R.3
Shin, J.-Y.4
Fu, Y.-H.5
Ptacek, L.J.6
-
70
-
-
68949200379
-
The transcriptional repressor DEC2 regulates sleep length in mammals
-
He Y, Jones CR, Fujiki N, et al. The transcriptional repressor DEC2 regulates sleep length in mammals. Science. 2009;325(5942):866-870.
-
(2009)
Science
, vol.325
, Issue.5942
, pp. 866-870
-
-
He, Y.1
Jones, C.R.2
Fujiki, N.3
-
71
-
-
0034941562
-
Stopping time: The genetics of fly and mouse circadian clocks
-
DOI 10.1146/annurev.neuro.24.1.1091
-
Allada R, Emery P, Takahashi JS, Rosbash M. Stopping time: the genetics of fly and mouse circadian clocks. Annu Rev Neurosci. 2001;24 :1091-1119. (Pubitemid 32695255)
-
(2001)
Annual Review of Neuroscience
, vol.24
, pp. 1091-1119
-
-
Allada, R.1
Emery, P.2
Takahashi, J.S.3
Rosbash, M.4
-
72
-
-
64849092309
-
Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
-
Jones S, Hruban RH, Kamiyama M, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009;324(5924):217.
-
(2009)
Science
, vol.324
, Issue.5924
, pp. 217
-
-
Jones, S.1
Hruban, R.H.2
Kamiyama, M.3
-
73
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009;461(7261):272-276.
-
(2009)
Nature
, vol.461
, Issue.7261
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
-
74
-
-
73149123343
-
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
-
Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA. 2009;106(45):19096-19101.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, Issue.45
, pp. 19096-19101
-
-
Choi, M.1
Scholl, U.I.2
Ji, W.3
-
75
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
Roach JC, Glusman G, Smit AF, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 2010;328(5978):636-639.
-
(2010)
Science
, vol.328
, Issue.5978
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
-
76
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010;362(13):1181-1191.
-
(2010)
N Engl J Med
, vol.362
, Issue.13
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
|