-
1
-
-
79952486262
-
Amyotrophic lateral sclerosis
-
S, C heah BC, T urner MR, E isen A, Hardiman O, et al . Amyotrophic lateral sclerosis . Lancet . 2011 ; 377 : 942-55 .
-
(2011)
Lancet
, vol.377
, pp. 942-955
-
-
Kiernan, M.1
Vucic, S.2
Cheah, B.C.3
Turner, M.R.4
Eisen, A.5
Hardiman, O.6
-
2
-
-
80755133370
-
Clinical genetics of amyotrophic lateral sclerosis: What do we really know
-
Andersen PM, A l-Chalabi A. C linical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol . 2011; 7 : 603-15 .
-
(2011)
Nat Rev Neurol .
, vol.7
, pp. 603-615
-
-
Andersen, P.M.1
Al-Chalabi, A.2
-
3
-
-
33751120678
-
A myotrophic lateral sclerosis as a complex genetic disease
-
Simpson CL, A l-Chalabi A . A myotrophic lateral sclerosis as a complex genetic disease . Biochim Biophys Acta . 2006 ; 1762 : 973-85 .
-
(2006)
Biochim Biophys Acta
, vol.1762
, pp. 973-985
-
-
Simpson, C.L.1
L-Chalabi, A.A.2
-
4
-
-
80051586618
-
Modelling the effects of penetrance and family size on rates of sporadic and familial disease
-
Al-Chalabi A, L ewis C M. M odelling the effects of penetrance and family size on rates of sporadic and familial disease . Hum Hered . 2011; 71 : 281-8 .
-
(2011)
Hum Hered .
, vol.71
, pp. 281-288
-
-
Al-Chalabi, A.1
Ewis, C.M.L.2
-
5
-
-
79952900483
-
FUS Mutations in Sporadic Amyotrophic Lateral Sclerosis
-
Lai SL, A bramzon Y, S chymick JC, S tephan DA, D unckley T, Dillman A, et al . FUS mutations in sporadic amyotrophic lateral sclerosis . Neurobiol Aging . 2011 ; 32 : 550.e1-4 .
-
(2011)
Neurobiol Aging
, vol.32
-
-
Lai, S.L.1
Abramzon, Y.2
Schymick, J.C.3
Stephan, D.A.4
Dunckley, T.5
Dillman, A.6
-
6
-
-
80054837386
-
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
-
Renton AE, M ajounie E, W aite A, S im ón -S án chez J, Rollinson S, Gibbs JR, et al . A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD . Neuron . 2011; 72 : 257-68 .
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simón-S Ánchez, J.4
Rollinson, S.5
Gibbs, J.R.6
-
7
-
-
84863602161
-
Contribution of major amyotrophic lateral sclerosis genes to the aetiology of sporadic disease
-
Lattante S, C onte A, Z ollino M, L uigetti M, d el Grande A, Marangi G, et al . Contribution of major amyotrophic lateral sclerosis genes to the aetiology of sporadic disease . Neurology . 2012; 79 : 66 - 72 .
-
(2012)
Neurology
, Issue.79
, pp. 66-72
-
-
Lattante, S.1
Conte, A.2
Zollino, M.3
Luigetti, M.4
Del Grande, A.5
Marangi, G.6
-
8
-
-
0034969437
-
Are Rare Variants Responsible for Susceptibility to Complex Diseases
-
Pritchard JK. A re Rare Variants Responsible for Susceptibility to Complex Diseases? Am J Hum Genet . 2001; 69 : 124 - 37 .
-
(2001)
Am J Hum Genet
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
9
-
-
44349132708
-
Common and rare variants in multifactorial susceptibility to common diseases
-
Bodmer W, B onilla C. C ommon and rare variants in multifactorial susceptibility to common diseases . Nat Genet . 2008; 40 : 695-701 .
-
(2008)
Nat Genet
, vol.40
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
10
-
-
70349565939
-
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis
-
Sabatelli M, E usebi F, A l-Chalabi A, C onte A, M adia F, Luigetti M, et al . Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis . Hum Mol Genet . 2006; 18 : 3997-4006 .
-
(2006)
Hum Mol Genet
, vol.18
, pp. 3997-4006
-
-
Sabatelli, M.1
Eusebi, F.2
L-Chalabi, A.A.3
Conte, A.4
Madia, F.5
Luigetti, M.6
-
11
-
-
0028142392
-
El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis . Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial ' Clinical limits of amyotrophic lateral sclerosis ' workshop contributors
-
Brooks BR, El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis . Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial ' Clinical limits of amyotrophic lateral sclerosis ' workshop contributors . J Neurol Sci . 1994 : 124 : S96 - 107 .
-
(1994)
J Neurol Sci
, vol.24
-
-
Brooks, B.R.1
-
12
-
-
2542486433
-
Nicotinic acetylcholine receptors and the regulation of neuronal signaling
-
Dajas-Bailador F, W onnacott S. N icotinic acetylcholine receptors and the regulation of neuronal signalling . Trends Pharmacol Sci . 2004; 25 : 317-24 .
-
(2004)
Trends Pharmacol Sci
, vol.25
, pp. 317-324
-
-
Dajas-Bailador, F.1
Wonnacott, S.2
-
13
-
-
68349130498
-
Structural and functional diversity of native brain neuronal nicotinic receptors
-
Gotti C, C lementi F, F ornari A, G aimarri A, G uiducci S, Manfredi I, et al . Structural and functional diversity of native brain neuronal nicotinic receptors . Biochem Pharmacol . 2009; 78 : 703-11 .
-
(2009)
Biochem Pharmacol
, vol.78
, pp. 703-711
-
-
Gotti, C.1
Clementi, F.2
Fornari, A.3
Gaimarri, A.4
Guiducci, S.5
Manfredi, I.6
-
14
-
-
75049085215
-
Mechanisms of neuroprotective effects of nicotine and acetylcholinesterase inhibitors: Role of alpha4 and alpha7 receptors in neuroprotection
-
Akaike A, T akada-Takatori Y, K ume T, I zum Y. M echanisms of neuroprotective effects of nicotine and acetylcholinesterase inhibitors: Role of alpha4 and alpha7 receptors in neuroprotection . J Mol Neurosci. 2010; 40 : 211-6 .
-
(2010)
J Mol Neurosci.
, Issue.40
, pp. 211-216
-
-
Akaike, A.1
Takada-Takatori, Y.2
Kume, T.3
Izum, Y.4
-
15
-
-
0037211658
-
Developmental expression of nicotinic receptors in the chick and human spinal cord
-
Keiger CJ, P revette D, C onroy WG, O ppenheim RW . Developmental expression of nicotinic receptors in the chick and human spinal cord . J Comp Neurol. 2003; 455 : 86-99 .
-
(2003)
J Comp Neurol
, vol.455
, pp. 86-99
-
-
Keiger, C.J.1
Prevette, D.2
Conroy, W.G.3
Oppenheim, R.W.4
-
16
-
-
0242300269
-
Nicotinic acetylcholine receptor distribution in relation to spinal neurotransmission pathways
-
Khan I, O saka H, S tanislaus S, C alvo RM, D eerinck T, Yaksh TL, et al . Nicotinic acetylcholine receptor distribution in relation to spinal neurotransmission pathways . J Comp Neurol . 2003; 467 : 44-59 .
-
(2003)
J Comp Neurol
, vol.467
, pp. 44-59
-
-
Khan, I.1
Osaka, H.2
Stanislaus, S.3
Calvo, R.M.4
Deerinck, T.5
Yaksh, T.L.6
-
17
-
-
17044361817
-
Stimulation of nicotinic acetylcholine receptors protects motor neurons
-
Nakamizo, T, Kawamata, J, Y amashita H, K anki R, K ihara T, Sawada H, et al . Stimulation of nicotinic acetylcholine receptors protects motor neurons . Biochem Biophys Res Commun . 2005; 330 : 1285-9 .
-
(2005)
Biochem Biophys Res Commun
, vol.330
, pp. 1285-1289
-
-
Nakamizo, T.1
Kawamata, J.2
Yamashita, H.3
Kanki, R.4
Kihara, T.5
Sawada, H.6
-
18
-
-
9644262558
-
Identifi ed spinal motor neurons of young rats possess nicotinic acetylcholine receptors of the heteromeric family
-
Ogier R, L iu X, T ribollet E, B ertrand D, R aggenbass M . Identifi ed spinal motor neurons of young rats possess nicotinic acetylcholine receptors of the heteromeric family . Eur J Neurosci . 2004; 20 : 2591-7 .
-
(2004)
Eur J Neurosci
, vol.20
, pp. 2591-2597
-
-
Ogier, R.1
Liu, X.2
Tribollet, E.3
Bertrand, D.4
Raggenbass, M.5
-
19
-
-
0032839033
-
Presence of functional neuronal nicotinic acetylcholine receptors in brainstem motor neurons of the rat
-
Zaninetti M, T ribollet E, B ertrand D, R aggenbass M . Presence of functional neuronal nicotinic acetylcholine receptors in brainstem motor neurons of the rat . Eur J Neurosci . 1999; 11 : 2737-48 .
-
(1999)
Eur J Neurosci
, vol.11
, pp. 2737-2748
-
-
Zaninetti, M.1
Tribollet, E.2
Bertrand, D.3
Raggenbass, M.4
-
20
-
-
0036086391
-
Properties of nicotinic receptors underlying Renshaw cell excitation by alpha-motor neurons in neonatal rat spinal cord
-
Dourado M, S argent PB. P roperties of nicotinic receptors underlying Renshaw cell excitation by alpha-motor neurons in neonatal rat spinal cord . J Neurophysiol . 2002; 87 : 3117-25 .
-
(2002)
J Neurophysiol
, vol.87
, pp. 3117-3125
-
-
Dourado, M.1
Sargent, P.B.2
-
21
-
-
77958615935
-
Adominant mutation in a neuronal acetylcholine receptor subunit leads to motor neuron degeneration in Caenorhabditis elegans
-
Barbagallo B, P rescott HA, B oyle P, Climer, F rancis MM. A dominant mutation in a neuronal acetylcholine receptor subunit leads to motor neuron degeneration in Caenorhabditis elegans . J Neurosci . 2010; 30 : 13932-42 .
-
(2010)
J Neurosci .
, Issue.30
, pp. 13932-13942
-
-
Barbagallo, B.1
Prescott, H.A.2
Boyle, P.3
Climer Francis, M.M.4
-
22
-
-
34147116715
-
Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
-
Kryukov GV, P ennacchio LA, S unyaev SR. M ost rare missense alleles are deleterious in humans: Implications for complex disease and association studies . Am J Hum Genet . 2007; 80 : 727-39 .
-
(2007)
Am J Hum Genet
, vol.80
, pp. 727-739
-
-
Kryukov, G.V.1
Pennacchio, L.A.2
Sunyaev, S.R.3
-
23
-
-
77549088703
-
Calcium dysregulation in amyotrophic lateral sclerosis
-
Grosskreutz J, v an den Bosch L, K eller B U. C alcium dysregulation in amyotrophic lateral sclerosis . Cell Calcium . 2010; 47 : 165-74 .
-
(2010)
Cell Calcium.
, Issue.47
, pp. 165-174
-
-
Grosskreutz, J.1
Van Den Bosch, L.2
Keller, B.U.3
-
24
-
-
80052081196
-
Stress signaling from the endoplasmic reticulum: A central player in the pathogenesis of amyotrophic lateral sclerosis
-
Walker AK, A tkin J D. S tress signaling from the endoplasmic reticulum: A central player in the pathogenesis of amyotrophic lateral sclerosis . IUBMB Life . 2011; 63 : 754-63
-
(2011)
IUBMB Life.
, Issue.63
, pp. 754-763
-
-
Walker, A.K.1
Atkin, J.D.2
-
25
-
-
84856607673
-
Endoplasmic reticulum stress and the ER mitochondrial calcium cycle in amyotrophic lateral sclerosis
-
Lautenschlaeger J, P rell T, G rosskreutz J. E ndoplasmic reticulum stress and the ER mitochondrial calcium cycle in amyotrophic lateral sclerosis . Amyotroph Lateral Scler . 2012; 13 : 166-77 .
-
(2012)
Amyotroph Lateral Scler.
, vol.13
, pp. 166-177
-
-
Lautenschlaeger, J.1
Prell, T.2
Grosskreutz, J.3
-
26
-
-
80052410191
-
Trafficking of alpha4 nicotinic receptors revealed by superecliptic phluorin: Effects of a beta4 amyotrophic lateral sclerosis-associated mutation and chronic exposure to nicotine
-
Richards CI, S rinivasan R, X iao C, M ackey ED, M iwa JM, Lester HA . Traffi cking of alpha4 nicotinic receptors revealed by superecliptic phluorin: effects of a beta4 amyotrophic lateral sclerosis-associated mutation and chronic exposure to nicotine . J Biol Chem . 2011; 286 : 31241-9 .
-
(2011)
J Biol Chem .
, vol.286
, pp. 31241-31249
-
-
Richards, C.I.1
Srinivasan, R.2
Xiao, C.3
MacKey, E.D.4
Miwa, J.M.5
Lester, H.A.6
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