-
1
-
-
34548149015
-
Spinal muscular atrophy diagnostics
-
Prior TW. Spinal muscular atrophy diagnostics. J Child Neurol 2007;22:952-956.
-
(2007)
J Child Neurol
, vol.22
, pp. 952-956
-
-
Prior, T.W.1
-
2
-
-
33749848158
-
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS
-
Corcia P, Camu W, Halimi JM, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres CR. SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology 2006;67:1147-1150.
-
(2006)
Neurology
, vol.67
, pp. 1147-1150
-
-
Corcia, P.1
Camu, W.2
Halimi, J.M.3
Vourc'h, P.4
Antar, C.5
Vedrine, S.6
Giraudeau, B.7
De Toffol, B.8
Andres, C.R.9
-
3
-
-
0031958077
-
Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease
-
Moulard B, Salachas F, Chassande B, Briolotti V, Meininger V, Malafosse A, Camu W. Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease. Ann Neurol 1998;43:640-644.
-
(1998)
Ann Neurol
, vol.43
, pp. 640-644
-
-
Moulard, B.1
Salachas, F.2
Chassande, B.3
Briolotti, V.4
Meininger, V.5
Malafosse, A.6
Camu, W.7
-
4
-
-
34250209501
-
Amyotrophic lateral sclerosis
-
Mitchell JD, Borasio GD. Amyotrophic lateral sclerosis. Lancet 2007;369:2031-2041.
-
(2007)
Lancet
, vol.369
, pp. 2031-2041
-
-
Mitchell, J.D.1
Borasio, G.D.2
-
5
-
-
67349285905
-
Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model
-
Turner BJ, Parkinson NJ, Davies KE, Talbot K. Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis 2009;34:511-517.
-
(2009)
Neurobiol Dis
, vol.34
, pp. 511-517
-
-
Turner, B.J.1
Parkinson, N.J.2
Davies, K.E.3
Talbot, K.4
-
6
-
-
28044435808
-
Lack of association between VEGF polymorphisms and ALS in a Dutch population
-
Van Vught PW, Sutedja NA, Veldink JH, Koeleman BP, Groeneveld GJ, Wijmenga C, Uitdehaag BM, de Jong JM, Baas F, Wokke JH, van den Berg LH. Lack of association between VEGF polymorphisms and ALS in a Dutch population. Neurology 2005;65:1643-1645.
-
(2005)
Neurology
, vol.65
, pp. 1643-1645
-
-
Van Vught, P.W.1
Sutedja, N.A.2
Veldink, J.H.3
Koeleman, B.P.4
Groeneveld, G.J.5
Wijmenga, C.6
Uitdehaag, B.M.7
De Jong, J.M.8
Baas, F.9
Wokke, J.H.10
Van Den Berg, L.H.11
-
7
-
-
0036156999
-
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis
-
Corcia P, Mayeux-Portas V, Khoris J, de Toffol B, Autret A, Muh JP, Camu W, Andres C. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol 2002;51:243-246.
-
(2002)
Ann Neurol
, vol.51
, pp. 243-246
-
-
Corcia, P.1
Mayeux-Portas, V.2
Khoris, J.3
De Toffol, B.4
Autret, A.5
Muh, J.P.6
Camu, W.7
Andres, C.8
-
8
-
-
25444493946
-
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS
-
Veldink JH, Kalmijn S, van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH, van den Berg LH. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology 2005;65:820-825.
-
(2005)
Neurology
, vol.65
, pp. 820-825
-
-
Veldink, J.H.1
Kalmijn, S.2
Van Der Hout, A.H.3
Lemmink, H.H.4
Groeneveld, G.J.5
Lummen, C.6
Scheffer, H.7
Wokke, J.H.8
Van Den Berg, L.H.9
-
9
-
-
0035957312
-
Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS
-
Veldink JH, van den Berg LH, Cobben JM, Stulp RP, De Jong JM, Vogels OJ, Baas F, Wokke JH, Scheffer H. Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS. Neurology 2001;56:749-752.
-
(2001)
Neurology
, vol.56
, pp. 749-752
-
-
Veldink, J.H.1
Van Den Berg, L.H.2
Cobben, J.M.3
Stulp, R.P.4
De Jong, J.M.5
Vogels, O.J.6
Baas, F.7
Wokke, J.H.8
Scheffer, H.9
-
10
-
-
0037069237
-
Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
-
Gamez J, Barcelo MJ, Munoz X, Carmona F, Cusco I, Baiget M, Cervera C, Tizzano EF. Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients. Neurology 2002;59:1456-1460.
-
(2002)
Neurology
, vol.59
, pp. 1456-1460
-
-
Gamez, J.1
Barcelo, M.J.2
Munoz, X.3
Carmona, F.4
Cusco, I.5
Baiget, M.6
Cervera, C.7
Tizzano, E.F.8
-
11
-
-
0001372737
-
Progressive motor neuron disease in adults; a clinical study with special reference to the course of the disease
-
Muller R. Progressive motor neuron disease in adults; a clinical study with special reference to the course of the disease. Acta Psychiatr Neurol Scand 1952;27:137-156.
-
(1952)
Acta Psychiatr Neurol Scand
, vol.27
, pp. 137-156
-
-
Muller, R.1
-
12
-
-
0033905620
-
Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: A population-based study
-
Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman OM. Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: A population-based study. Arch Neurol 2000;57:1171-1176. (Pubitemid 30644664)
-
(2000)
Archives of Neurology
, vol.57
, Issue.8
, pp. 1171-1176
-
-
Traynor, B.J.1
Codd, M.B.2
Corr, B.3
Forde, C.4
Frost, E.5
Hardiman, O.M.6
-
13
-
-
0345016034
-
The spectrum of lower motor neuron syndromes
-
van Den Berg-Vos RM, van Den Berg LH, de Visser J, de Visser M, Franssen H, Wokke JH. The spectrum of lower motor neuron syndromes. J Neurol 2003;250:1279-1292.
-
(2003)
J Neurol
, vol.250
, pp. 1279-1292
-
-
Van Den Berg-Vos, R.M.1
Van Den Berg, L.H.2
De Visser, J.3
De Visser, M.4
Franssen, H.5
Wokke, J.H.6
-
14
-
-
0242584410
-
Sporadic lower motor neuron disease with adult onset: Classification of subtypes
-
van den Berg-Vos RM, de Visser J, Franssen H, de Visser M, de Jong JM, Kalmijn S, Wokke JH, van den Berg LH. Sporadic lower motor neuron disease with adult onset: classification of subtypes. Brain 2003;126:1036-1047.
-
(2003)
Brain
, vol.126
, pp. 1036-1047
-
-
Van Den Berg-Vos, R.M.1
De Visser, J.2
Franssen, H.3
De Visser, M.4
De Jong, J.M.5
Kalmijn, S.6
Wokke, J.H.7
Van Den Berg, L.H.8
-
15
-
-
0036192733
-
Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neuron disease
-
Echaniz-Laguna A, Guiraud-Chaumeil C, Tranchant C, Reeber A, Melki J, Warter JM. Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease. J Neurol 2002;249:290-293.
-
(2002)
J Neurol
, vol.249
, pp. 290-293
-
-
Echaniz-Laguna, A.1
Guiraud-Chaumeil, C.2
Tranchant, C.3
Reeber, A.4
Melki, J.5
Warter, J.M.6
-
16
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80:155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
-
17
-
-
0030020799
-
Gene deletions in spinal muscular atrophy
-
Rodrigues NR, Owen N, Talbot K, Patel S, Muntoni F, Ignatius J, Dubowitz V, Davies KE. Gene deletions in spinal muscular atrophy. J Med Genet 1996;33:93-96. (Pubitemid 26055738)
-
(1996)
Journal of Medical Genetics
, vol.33
, Issue.2
, pp. 93-96
-
-
Rodrigues, N.R.1
Owen, N.2
Talbot, K.3
Patel, S.4
Muntoni, F.5
Ignatius, J.6
Dubowitz, V.7
Davies, K.E.8
-
18
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
19
-
-
34247249951
-
Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification
-
Huang CH, Chang YY, Chen CH, Kuo YS, Hwu WL, Gerdes T, Ko TM. Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification. Genet Med 2007;9:241-248.
-
(2007)
Genet Med
, vol.9
, pp. 241-248
-
-
Huang, C.H.1
Chang, Y.Y.2
Chen, C.H.3
Kuo, Y.S.4
Hwu, W.L.5
Gerdes, T.6
Ko, T.M.7
-
20
-
-
64149093241
-
A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy
-
Arkblad E, Tulinius M, Kroksmark AK, Henricsson M, Darin N. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr 2009;98:865-872.
-
(2009)
Acta Paediatr
, vol.98
, pp. 865-872
-
-
Arkblad, E.1
Tulinius, M.2
Kroksmark, A.K.3
Henricsson, M.4
Darin, N.5
-
21
-
-
33845232467
-
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy
-
Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord 2006;16:830-838.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 830-838
-
-
Arkblad, E.L.1
Darin, N.2
Berg, K.3
Kimber, E.4
Brandberg, G.5
Lindberg, C.6
Holmberg, E.7
Tulinius, M.8
Nordling, M.9
-
22
-
-
36048985104
-
SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity
-
DOI 10.1016/j.bbrc.2007.10.096, PII S0006291X07022462
-
Zou T, Ilangovan R, Yu F, Xu Z, Zhou J. SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity. Biochem Biophys Res Commun 2007;364:850-855. (Pubitemid 350087879)
-
(2007)
Biochemical and Biophysical Research Communications
, vol.364
, Issue.4
, pp. 850-855
-
-
Zou, T.1
Ilangovan, R.2
Yu, F.3
Xu, Z.4
Zhou, J.5
-
23
-
-
2242443509
-
Essential role for the SMN complex in the specificity of snRNP assembly
-
DOI 10.1126/science.1074962
-
Pellizzoni L, Yong J, Dreyfuss G. Essential role for the SMN complex in the specificity of snRNP assembly. Science 2002;298:1775-1779. (Pubitemid 35404118)
-
(2002)
Science
, vol.298
, Issue.5599
, pp. 1775-1779
-
-
Pellizzoni, L.1
Yong, J.2
Dreyfuss, G.3
-
24
-
-
0345599021
-
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motor neurons
-
Rossoll W, Jablonka S, Andreassi C, Kroning AK, Karle K, Monani UR, Sendtner M. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motor neurons. J Cell Biol 2003;163:801-812.
-
(2003)
J Cell Biol
, vol.163
, pp. 801-812
-
-
Rossoll, W.1
Jablonka, S.2
Andreassi, C.3
Kroning, A.K.4
Karle, K.5
Monani, U.R.6
Sendtner, M.7
-
25
-
-
58049206781
-
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition
-
Hauke J, Riessland M, Lunke S, Eyupoglu IY, Blumcke I, El-Osta A, Wirth B, Hahnen E. Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet 2009;18:304-317.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 304-317
-
-
Hauke, J.1
Riessland, M.2
Lunke, S.3
Eyupoglu, I.Y.4
Blumcke, I.5
El-Osta, A.6
Wirth, B.7
Hahnen, E.8
-
27
-
-
31544466502
-
Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene
-
Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Curr Neurol Neurosci Rep 2006;6:37-46.
-
(2006)
Curr Neurol Neurosci Rep
, vol.6
, pp. 37-46
-
-
Andersen, P.M.1
-
28
-
-
8844263662
-
A novel candidate region for ALS on chromosome 14q11.2
-
Greenway MJ, Alexander MD, Ennis S, Traynor BJ, Corr B, Frost E, Green A, Hardiman O. A novel candidate region for ALS on chromosome 14q11.2. Neurology 2004;63:1936-1938. (Pubitemid 39532395)
-
(2004)
Neurology
, vol.63
, Issue.10
, pp. 1936-1938
-
-
Greenway, M.J.1
Alexander, M.D.2
Ennis, S.3
Traynor, B.J.4
Corr, B.5
Frost, E.6
Green, A.7
Hardiman, O.8
-
29
-
-
0041903805
-
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death
-
DOI 10.1038/ng1211
-
Lambrechts D, Storkebaum E, Morimoto M, Del-Favero J, Desmet F, Marklund SL, Wyns S, Thijs V, Andersson J, van Marion I, Al-Chalabi A, Bornes S, Musson R, Hansen V, Beckman L, Adolfsson R, Pall HS, Prats H, Vermeire S, Rutgeerts P, Katayama S, Awata T, Leigh N, Lang-Lazdunski L, Dewerchin M, Shaw C, Moons L, Vlietinck R, Morrison KE, Robberecht W, Van Broeckhoven C, Collen D, Andersen PM, Carmeliet P. VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 2003;34:383-394. (Pubitemid 36935331)
-
(2003)
Nature Genetics
, vol.34
, Issue.4
, pp. 383-394
-
-
Lambrechts, D.1
Storkebaum, E.2
Morimoto, M.3
Del-Favero, J.4
Desmet, F.5
Marklund, S.L.6
Wyns, S.7
Thijs, V.8
Andersson, J.9
Van Marion, I.10
Al-Chalabi, A.11
Bornes, S.12
Musson, R.13
Hansen, V.14
Beckman, L.15
Adolfsson, R.16
Pall, H.S.17
Prats, H.18
Vermeire, S.19
Rutgeerts, P.20
Katayama, S.21
Awata, T.22
Leigh, N.23
Lang-Lazdunski, L.24
Dewerchin, M.25
Shaw, C.26
Moons, L.27
Vlietinck, R.28
Morrison, K.E.29
Robberecht, W.30
Van Broeckhoven, C.31
Collen, D.32
Andersen, P.M.33
Carmeliet, P.34
more..
-
30
-
-
77954018325
-
Familial ALS with G298S mutation in TARDBP: A comparison of CSF tau protein levels with those in sporadic ALS
-
Nozaki I, Arai M, Takahashi K, Hamaguchi T, Yoshikawa H, Muroishi T, Noguchi-Shinohara M, Ito H, Itokawa M, Akiyama H, Kawata A, Yamada M. Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS. Intern Med 2010;49:1209-1212.
-
(2010)
Intern Med
, vol.49
, pp. 1209-1212
-
-
Nozaki, I.1
Arai, M.2
Takahashi, K.3
Hamaguchi, T.4
Yoshikawa, H.5
Muroishi, T.6
Noguchi-Shinohara, M.7
Ito, H.8
Itokawa, M.9
Akiyama, H.10
Kawata, A.11
Yamada, M.12
-
31
-
-
33749006845
-
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
-
DOI 10.1212/01.wnl.0000231510.89311.8b, PII 0000611420060926000037
-
Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 2006;67:1074-1077. (Pubitemid 44454610)
-
(2006)
Neurology
, vol.67
, Issue.6
, pp. 1074-1077
-
-
Parkinson, N.1
Ince, P.G.2
Smith, M.O.3
Highley, R.4
Skibinski, G.5
Andersen, P.M.6
Morrison, K.E.7
Pall, H.S.8
Hardiman, O.9
Collinge, J.10
Shaw, P.J.11
Fisher, E.M.C.12
-
32
-
-
77958054136
-
A novel double mutation in FUS gene causing sporadic ALS
-
June 17 [e-pub ahead of print]
-
Robertson J, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E. A novel double mutation in FUS gene causing sporadic ALS. Neurobiol Aging 2010; June 17 [e-pub ahead of print].
-
(2010)
Neurobiol Aging
-
-
Robertson, J.1
Bilbao, J.2
Zinman, L.3
Hazrati, L.N.4
Tokuhiro, S.5
Sato, C.6
Moreno, D.7
Strome, R.8
Mackenzie, I.R.9
Rogaeva, E.10
-
33
-
-
77953334773
-
Smoking may be considered an established risk factor for sporadic ALS
-
author reply 1928-1929
-
Weisskopf MJ, Gallo V, O'Reilly EJ, Vineis P, Ascherio A. Smoking may be considered an established risk factor for sporadic ALS. Neurology 2010;74:1927-1928; author reply 1928-1929.
-
(2010)
Neurology
, vol.74
, pp. 1927-1928
-
-
Weisskopf, M.J.1
Gallo, V.2
O'Reilly, E.J.3
Vineis, P.4
Ascherio, A.5
-
34
-
-
70450190985
-
Exposure to chemicals and metals and risk of amyotrophic lateral sclerosis: A systematic review
-
Sutedja NA, Veldink JH, Fischer K, Kromhout H, Heederik D, Huisman MH, Wokke JH, van den Berg LH. Exposure to chemicals and metals and risk of amyotrophic lateral sclerosis: a systematic review. Amyotroph Lateral Scler 2009;10:302-309.
-
(2009)
Amyotroph Lateral Scler
, vol.10
, pp. 302-309
-
-
Sutedja, N.A.1
Veldink, J.H.2
Fischer, K.3
Kromhout, H.4
Heederik, D.5
Huisman, M.H.6
Wokke, J.H.7
Van Den Berg, L.H.8
-
35
-
-
0037604486
-
An evidence-based medicine approach to the evaluation of the role of exogenous risk factors in sporadic amyotrophic lateral sclerosis
-
DOI 10.1159/000070562
-
Armon C. An evidence-based medicine approach to the evaluation of the role of exogenous risk factors in sporadic amyotrophic lateral sclerosis. Neuroepidemiology 2003;22:217-228. (Pubitemid 36693864)
-
(2003)
Neuroepidemiology
, vol.22
, Issue.4
, pp. 217-228
-
-
Armon, C.1
-
36
-
-
12144277279
-
Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in korean population based on real-time PCR
-
Lee TM, Kim SW, Lee KS, Jin HS, Koo SK, Jo I, Kang S, Jung SC. Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR. J Korean Med Sci 2004;19:870-873. (Pubitemid 40104882)
-
(2004)
Journal of Korean Medical Science
, vol.19
, Issue.6
, pp. 870-873
-
-
Lee, T.-M.1
Kim, S.-W.2
Lee, K.-S.3
Jin, H.-S.4
Koo, S.K.5
Jo, I.6
Kang, S.7
Jung, S.-C.8
-
37
-
-
0033850254
-
Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension
-
Gerard B, Ginet N, Matthijs G, Evrard P, Baumann C, Da Silva F, Gerard-Blanluet M, Mayer M, Grandchamp B, Elion J. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension. Hum Mutat 2000;16:253-263.
-
(2000)
Hum Mutat
, vol.16
, pp. 253-263
-
-
Gerard, B.1
Ginet, N.2
Matthijs, G.3
Evrard, P.4
Baumann, C.5
Da Silva, F.6
Gerard-Blanluet, M.7
Mayer, M.8
Grandchamp, B.9
Elion, J.10
-
38
-
-
77954853957
-
Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification
-
Yoon S, Lee CH, Lee KA. Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification. Korean J Lab Med 2010;30:93-96.
-
(2010)
Korean J Lab Med
, vol.30
, pp. 93-96
-
-
Yoon, S.1
Lee, C.H.2
Lee, K.A.3
|