-
1
-
-
7844227669
-
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor
-
Al-Chalabi A., Andersen P.M., Chioza B., Shaw C., Sham P.C., Robberecht W., Matthijs G., Camu W., Marklund S.L., Forsgren L., Rouleau G., Laing N.G., Hurse P.V., Siddique T., Leigh P.N., and Powell J.F. Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. Hum. Mol. Genet. 7 (1998) 2045-2050
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 2045-2050
-
-
Al-Chalabi, A.1
Andersen, P.M.2
Chioza, B.3
Shaw, C.4
Sham, P.C.5
Robberecht, W.6
Matthijs, G.7
Camu, W.8
Marklund, S.L.9
Forsgren, L.10
Rouleau, G.11
Laing, N.G.12
Hurse, P.V.13
Siddique, T.14
Leigh, P.N.15
Powell, J.F.16
-
2
-
-
0003971127
-
Amyotrophic lateral sclerosis and CuZn superoxide dismutase
-
Doctoral thesis, Umea University, Umea, Sweden
-
P.M. Andersen, Amyotrophic lateral sclerosis and CuZn superoxide dismutase. A clinical, genetic and enzymatic study, Doctoral thesis, Umea University, Umea, Sweden, 1997.
-
(1997)
A clinical, genetic and enzymatic study
-
-
Andersen, P.M.1
-
3
-
-
9544236295
-
Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients [published erratum appears in Brain 121 (Pt 1) (1998) 187]
-
Andersen P.M., Forsgren L., Binzer M., Nilsson P., Ala-Hurula V., Keranen M.L., Bergmark L., Saarinen A., Haltia T., Tarvainen I., Kinnunen E., Udd B., and Marklund S.L. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients [published erratum appears in Brain 121 (Pt 1) (1998) 187]. Brain 119 (1996) 1153-1172
-
(1996)
Brain
, vol.119
, pp. 1153-1172
-
-
Andersen, P.M.1
Forsgren, L.2
Binzer, M.3
Nilsson, P.4
Ala-Hurula, V.5
Keranen, M.L.6
Bergmark, L.7
Saarinen, A.8
Haltia, T.9
Tarvainen, I.10
Kinnunen, E.11
Udd, B.12
Marklund, S.L.13
-
4
-
-
0029010496
-
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
-
Andersen P.M., Nilsson P., Ala-Hurula V., Keranen M.L., Tarvainen I., Haltia T., Nilsson L., Binzer M., Forsgren L., and Marklund S.L. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat. Genet. 10 (1995) 61-66
-
(1995)
Nat. Genet.
, vol.10
, pp. 61-66
-
-
Andersen, P.M.1
Nilsson, P.2
Ala-Hurula, V.3
Keranen, M.L.4
Tarvainen, I.5
Haltia, T.6
Nilsson, L.7
Binzer, M.8
Forsgren, L.9
Marklund, S.L.10
-
5
-
-
0030749160
-
Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
-
Andersen P.M., Nilsson P., Keranen M.L., Forsgren L., Hagglund J., Karlsborg M., Ronnevi L.O., Gredal O., and Marklund S.L. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 120 (1997) 1723-1737
-
(1997)
Brain
, vol.120
, pp. 1723-1737
-
-
Andersen, P.M.1
Nilsson, P.2
Keranen, M.L.3
Forsgren, L.4
Hagglund, J.5
Karlsborg, M.6
Ronnevi, L.O.7
Gredal, O.8
Marklund, S.L.9
-
6
-
-
0038446777
-
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
-
Andersen P.M., Sims K.B., Xin W.W., Kiely R., O'Neill G., Ravits J., Pioro E., Harati Y., Brower R.D., Levine J.S., Heinicke H.U., Seltzer W., Boss M., and Brown Jr. R.H. Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph. Lateral. Scler. Other Motor Neuron Disord. 4 (2003) 62-73
-
(2003)
Amyotroph. Lateral. Scler. Other Motor Neuron Disord.
, vol.4
, pp. 62-73
-
-
Andersen, P.M.1
Sims, K.B.2
Xin, W.W.3
Kiely, R.4
O'Neill, G.5
Ravits, J.6
Pioro, E.7
Harati, Y.8
Brower, R.D.9
Levine, J.S.10
Heinicke, H.U.11
Seltzer, W.12
Boss, M.13
Brown Jr., R.H.14
-
7
-
-
0015766689
-
Superoxide dismutase. A population study
-
Beckman G., and Pakarinen A. Superoxide dismutase. A population study. Hum. Hered. 23 (1973) 346-351
-
(1973)
Hum. Hered.
, vol.23
, pp. 346-351
-
-
Beckman, G.1
Pakarinen, A.2
-
8
-
-
4244121719
-
Transgenic mice homozygous for the Asp90Ala human SOD-1 mutation develop ALS clinically and histologically
-
Brannstrom T., Ernhill K., Marklund S., and Nilsson P. Transgenic mice homozygous for the Asp90Ala human SOD-1 mutation develop ALS clinically and histologically. Soc. Neurosci. (1998) A188.1
-
(1998)
Soc. Neurosci.
-
-
Brannstrom, T.1
Ernhill, K.2
Marklund, S.3
Nilsson, P.4
-
9
-
-
38049017916
-
SOD1(A4V)-mediated ALS: absence of a closely linked modifier gene and origination in Asia
-
Broom W.J., Johnson D.V., Auwarter K.E., Iafrate A.J., Russ C., Al-Chalabi A., Sapp P.C., McKenna-Yasek D., Andersen P.M., and Brown Jr. R.H. SOD1(A4V)-mediated ALS: absence of a closely linked modifier gene and origination in Asia. Neurosci. Lett. 430 (2008) 241-245
-
(2008)
Neurosci. Lett.
, vol.430
, pp. 241-245
-
-
Broom, W.J.1
Johnson, D.V.2
Auwarter, K.E.3
Iafrate, A.J.4
Russ, C.5
Al-Chalabi, A.6
Sapp, P.C.7
McKenna-Yasek, D.8
Andersen, P.M.9
Brown Jr., R.H.10
-
10
-
-
28744434903
-
Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes
-
Broom W.J., Russ C., Sapp P.C., McKenna-Yasek D., Hosler B.A., Andersen P.M., and Brown Jr. R.H. Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes. Neurosci. Lett. 392 (2006) 52-57
-
(2006)
Neurosci. Lett.
, vol.392
, pp. 52-57
-
-
Broom, W.J.1
Russ, C.2
Sapp, P.C.3
McKenna-Yasek, D.4
Hosler, B.A.5
Andersen, P.M.6
Brown Jr., R.H.7
-
11
-
-
0035516124
-
From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS
-
Cleveland D.W., and Rothstein J.D. From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS. Nat. Rev. Neurosci. 2 (2001) 806-819
-
(2001)
Nat. Rev. Neurosci.
, vol.2
, pp. 806-819
-
-
Cleveland, D.W.1
Rothstein, J.D.2
-
12
-
-
24344500211
-
Initial sequence of the chimpanzee genome and comparison with the human genome
-
Consortium T.C.S.a.A. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437 (2005) 69-87
-
(2005)
Nature
, vol.437
, pp. 69-87
-
-
Consortium, T.C.S.a.A.1
-
13
-
-
0029815265
-
An update on superoxide dismutase 1 in familial amyotrophic lateral sclerosis
-
Cudkowicz M.E., and Brown Jr. R.H. An update on superoxide dismutase 1 in familial amyotrophic lateral sclerosis. J. Neurol. Sci. 139 Suppl (1996) 10-15
-
(1996)
J. Neurol. Sci.
, vol.139
, Issue.SUPPL
, pp. 10-15
-
-
Cudkowicz, M.E.1
Brown Jr., R.H.2
-
14
-
-
0028823914
-
Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments
-
de Belleroche J., Orrell R., and King A. Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments. J. Med. Genet. 32 (1995) 841-847
-
(1995)
J. Med. Genet.
, vol.32
, pp. 841-847
-
-
de Belleroche, J.1
Orrell, R.2
King, A.3
-
15
-
-
0031978181
-
Base-calling of automated sequencer traces using phred. II. Error probabilities
-
Ewing B., and Green P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res. 8 (1998) 186-194
-
(1998)
Genome Res.
, vol.8
, pp. 186-194
-
-
Ewing, B.1
Green, P.2
-
16
-
-
0031955116
-
Consed: a graphical tool for sequence finishing
-
Gordon D., Abajian C., and Green P. Consed: a graphical tool for sequence finishing. Genome Res. 8 (1998) 195-202
-
(1998)
Genome Res.
, vol.8
, pp. 195-202
-
-
Gordon, D.1
Abajian, C.2
Green, P.3
-
17
-
-
0035136084
-
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family
-
Hand C.K., Mayeux-Portas V., Khoris J., Briolotti V., Clavelou P., Camu W., and Rouleau G.A. Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann. Neurol. 49 (2001) 267-271
-
(2001)
Ann. Neurol.
, vol.49
, pp. 267-271
-
-
Hand, C.K.1
Mayeux-Portas, V.2
Khoris, J.3
Briolotti, V.4
Clavelou, P.5
Camu, W.6
Rouleau, G.A.7
-
18
-
-
0030780350
-
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation
-
Jackson M., Al-Chalabi A., Enayat Z.E., Chioza B., Leigh P.N., and Morrison K.E. Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann. Neurol. 42 (1997) 803-807
-
(1997)
Ann. Neurol.
, vol.42
, pp. 803-807
-
-
Jackson, M.1
Al-Chalabi, A.2
Enayat, Z.E.3
Chioza, B.4
Leigh, P.N.5
Morrison, K.E.6
-
19
-
-
33845361242
-
Motor neuron disease in mice expressing the wild type-like D90A mutant superoxide dismutase-1
-
Jonsson P.A., Graffmo K.S., Brannstrom T., Nilsson P., Andersen P.M., and Marklund S.L. Motor neuron disease in mice expressing the wild type-like D90A mutant superoxide dismutase-1. J. Neuropathol. Exp. Neurol. 65 (2006) 1126-1136
-
(2006)
J. Neuropathol. Exp. Neurol.
, vol.65
, pp. 1126-1136
-
-
Jonsson, P.A.1
Graffmo, K.S.2
Brannstrom, T.3
Nilsson, P.4
Andersen, P.M.5
Marklund, S.L.6
-
20
-
-
0030872838
-
PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
-
Nickerson D.A., Tobe V.O., and Taylor S.L. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res. 25 (1997) 2745-2751
-
(1997)
Nucleic Acids Res.
, vol.25
, pp. 2745-2751
-
-
Nickerson, D.A.1
Tobe, V.O.2
Taylor, S.L.3
-
21
-
-
25644456827
-
DNA sequence and analysis of human chromosome 18
-
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J., Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., O'Neill K., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., and Lander E.S. DNA sequence and analysis of human chromosome 18. Nature 437 (2005) 551-555
-
(2005)
Nature
, vol.437
, pp. 551-555
-
-
Nusbaum, C.1
Zody, M.C.2
Borowsky, M.L.3
Kamal, M.4
Kodira, C.D.5
Taylor, T.D.6
Whittaker, C.A.7
Chang, J.L.8
Cuomo, C.A.9
Dewar, K.10
FitzGerald, M.G.11
Yang, X.12
Abouelleil, A.13
Allen, N.R.14
Anderson, S.15
Bloom, T.16
Bugalter, B.17
Butler, J.18
Cook, A.19
DeCaprio, D.20
Engels, R.21
Garber, M.22
Gnirke, A.23
Hafez, N.24
Hall, J.L.25
Norman, C.H.26
Itoh, T.27
Jaffe, D.B.28
Kuroki, Y.29
Lehoczky, J.30
Lui, A.31
Macdonald, P.32
Mauceli, E.33
Mikkelsen, T.S.34
Naylor, J.W.35
Nicol, R.36
Nguyen, C.37
Noguchi, H.38
O'Leary, S.B.39
O'Neill, K.40
Piqani, B.41
Smith, C.L.42
Talamas, J.A.43
Topham, K.44
Totoki, Y.45
Toyoda, A.46
Wain, H.M.47
Young, S.K.48
Zeng, Q.49
Zimmer, A.R.50
Fujiyama, A.51
Hattori, M.52
Birren, B.W.53
Sakaki, Y.54
Lander, E.S.55
more..
-
22
-
-
0036885011
-
D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype
-
Parton M.J., Broom W., Andersen P.M., Al-Chalabi A., Nigel Leigh P., Powell J.F., and Shaw C.E. D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype. Hum. Mutat. 20 (2002) 473
-
(2002)
Hum. Mutat.
, vol.20
, pp. 473
-
-
Parton, M.J.1
Broom, W.2
Andersen, P.M.3
Al-Chalabi, A.4
Nigel Leigh, P.5
Powell, J.F.6
Shaw, C.E.7
-
23
-
-
0030450004
-
Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features [see comments]
-
Radunovic A., and Leigh P.N. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features [see comments]. J. Neurol. Neurosurg. Psychiatry 61 (1996) 565-572
-
(1996)
J. Neurol. Neurosurg. Psychiatry
, vol.61
, pp. 565-572
-
-
Radunovic, A.1
Leigh, P.N.2
-
24
-
-
0029854883
-
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
-
Robberecht W., Aguirre T., Van den Bosch L., Tilkin P., Cassiman J.J., and Matthijs G. D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology 47 (1996) 1336-1339
-
(1996)
Neurology
, vol.47
, pp. 1336-1339
-
-
Robberecht, W.1
Aguirre, T.2
Van den Bosch, L.3
Tilkin, P.4
Cassiman, J.J.5
Matthijs, G.6
-
25
-
-
68149170185
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis [published erratum appears in Nature 22;364(6435) (1993) 362] [see comments]
-
Rahmani Z., Krizus A., McKenna-Yasek D., Cayabyab A., Gaston S.M., Berger R., Tanzi R.E., Halperin J.J., Herzfeldt B., Van den Bergh R., Hung W.-Y., Bird T., Deng G., Mulder D.W., Smyth C., Laing N.G., Soriano E., Pericak-Vance M.A., Haines J., Rouleau G.A., Gusella J.S., Horvitz H.R., and Brown R.H. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis [published erratum appears in Nature 22;364(6435) (1993) 362] [see comments]. Nature 362 (1993) 59-62
-
(1993)
Nature
, vol.362
, pp. 59-62
-
-
Rahmani, Z.1
Krizus, A.2
McKenna-Yasek, D.3
Cayabyab, A.4
Gaston, S.M.5
Berger, R.6
Tanzi, R.E.7
Halperin, J.J.8
Herzfeldt, B.9
Van den Bergh, R.10
Hung, W.-Y.11
Bird, T.12
Deng, G.13
Mulder, D.W.14
Smyth, C.15
Laing, N.G.16
Soriano, E.17
Pericak-Vance, M.A.18
Haines, J.19
Rouleau, G.A.20
Gusella, J.S.21
Horvitz, H.R.22
Brown, R.H.23
more..
-
26
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Rozen S., and Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol. 132 (2000) 365-386
-
(2000)
Methods Mol. Biol.
, vol.132
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
27
-
-
0035065017
-
Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia
-
Skvortsova V.I., Limborska S.A., Slominsky P.A., Levitskaya N.I., Levitsky G.N., Shadrina M.I., and Kondratyeva E.A. Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia. Eur. J. Neurol. 8 (2001) 167-172
-
(2001)
Eur. J. Neurol.
, vol.8
, pp. 167-172
-
-
Skvortsova, V.I.1
Limborska, S.A.2
Slominsky, P.A.3
Levitskaya, N.I.4
Levitsky, G.N.5
Shadrina, M.I.6
Kondratyeva, E.A.7
-
28
-
-
0037795635
-
Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis show enhanced formation of aggregates in vitro
-
Stathopulos P.B., Rumfeldt J.A., Scholz G.A., Irani R.A., Frey H.E., Hallewell R.A., Lepock J.R., and Meiering E.M. Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis show enhanced formation of aggregates in vitro. Proc. Natl. Acad. Sci. U.S.A. 100 (2003) 7021-7026
-
(2003)
Proc. Natl. Acad. Sci. U.S.A.
, vol.100
, pp. 7021-7026
-
-
Stathopulos, P.B.1
Rumfeldt, J.A.2
Scholz, G.A.3
Irani, R.A.4
Frey, H.E.5
Hallewell, R.A.6
Lepock, J.R.7
Meiering, E.M.8
-
29
-
-
45149083597
-
On the origin of the transthyretin Val30Met familial amyloid polyneuropathy
-
Zaros C., Genin E., Hellman U., Saporta M.A., Languille L., Wadington-Cruz M., Suhr O., Misrahi M., and Plante-Bordeneuve V. On the origin of the transthyretin Val30Met familial amyloid polyneuropathy. Ann. Hum. Genet. 72 (2008) 478-484
-
(2008)
Ann. Hum. Genet.
, vol.72
, pp. 478-484
-
-
Zaros, C.1
Genin, E.2
Hellman, U.3
Saporta, M.A.4
Languille, L.5
Wadington-Cruz, M.6
Suhr, O.7
Misrahi, M.8
Plante-Bordeneuve, V.9
-
30
-
-
35348874857
-
Soluble misfolded subfractions of mutant superoxide dismutase-1 s are enriched in spinal cords throughout life in murine ALS models
-
Zetterstrom P., Stewart H.G., Bergemalm D., Jonsson P.A., Graffmo K.S., Andersen P.M., Brannstrom T., Oliveberg M., and Marklund S.L. Soluble misfolded subfractions of mutant superoxide dismutase-1 s are enriched in spinal cords throughout life in murine ALS models. Proc. Natl. Acad. Sci. U.S.A. 104 (2007) 14157-14162
-
(2007)
Proc. Natl. Acad. Sci. U.S.A.
, vol.104
, pp. 14157-14162
-
-
Zetterstrom, P.1
Stewart, H.G.2
Bergemalm, D.3
Jonsson, P.A.4
Graffmo, K.S.5
Andersen, P.M.6
Brannstrom, T.7
Oliveberg, M.8
Marklund, S.L.9
-
31
-
-
65249148429
-
A mechanism for low penetrance in an ALS family with a novel SOD1 deletion
-
Zinman L., Lui H.N., Sato C., Wakutani Y., Marvelle A.F., Moreno D., Morrison K.E., Mohlke K.L., Bilbao J., Robertson J., and Rogaeva E. A mechanism for low penetrance in an ALS family with a novel SOD1 deletion. Neurology 72 (2009) 1153-1159
-
(2009)
Neurology
, vol.72
, pp. 1153-1159
-
-
Zinman, L.1
Lui, H.N.2
Sato, C.3
Wakutani, Y.4
Marvelle, A.F.5
Moreno, D.6
Morrison, K.E.7
Mohlke, K.L.8
Bilbao, J.9
Robertson, J.10
Rogaeva, E.11
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