-
1
-
-
0028017992
-
Identification and characterization of the gene causing type 1 spinocerebellar ataxia
-
Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, et al. (1994) Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature genetics 7: 513-520
-
(1994)
Nature Genetics
, vol.7
, pp. 513-520
-
-
Banfi, S.1
Servadio, A.2
Chung, M.Y.3
Kwiatkowski Jr, T.J.4
McCall, A.E.5
-
2
-
-
0028229119
-
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I
-
Jodice C, Malaspina P, Persichetti F, Novelletto A, Spadaro M, et al. (1994) Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. American journal of human genetics 54: 959-965
-
(1994)
American Journal of Human Genetics
, vol.54
, pp. 959-965
-
-
Jodice, C.1
Malaspina, P.2
Persichetti, F.3
Novelletto, A.4
Spadaro, M.5
-
3
-
-
0035475788
-
SCA1 molecular genetics: A history of a 13 year collaboration against glutamines
-
Orr HT, Zoghbi HY (2001) SCA1 molecular genetics: a history of a 13 year collaboration against glutamines. Human molecular genetics 10: 2307-2311
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 2307-2311
-
-
Orr, H.T.1
Zoghbi, H.Y.2
-
4
-
-
0038725011
-
Biomedicine. Ataxin-1 regulators in the spotlight
-
Heintz N (2003) Biomedicine. Ataxin-1 regulators in the spotlight. Science (New York, NY 301: 59-60
-
(2003)
Science (New York, NY
, vol.301
, pp. 59-60
-
-
Heintz, N.1
-
5
-
-
33845640590
-
Hosting neurotoxicity in polyglutamine disease
-
Liu N, Bonini NM (2006) Hosting neurotoxicity in polyglutamine disease. Cell 127: 1299-1300
-
(2006)
Cell
, vol.127
, pp. 1299-1300
-
-
Liu, N.1
Bonini, N.M.2
-
6
-
-
0038379383
-
Polyglutamine neurodegeneration: Minding your Ps and Qs
-
Paulson H (2003) Polyglutamine neurodegeneration: minding your Ps and Qs. Nature medicine 9: 825-826
-
(2003)
Nature Medicine
, vol.9
, pp. 825-826
-
-
Paulson, H.1
-
7
-
-
0030933679
-
Identification of a self-association region within the SCA1 gene product, ataxin- 1
-
Burright EN, Davidson JD, Duvick LA, Koshy B, Zoghbi HY, et al. (1997) Identification of a self-association region within the SCA1 gene product, ataxin- 1. Human molecular genetics 6: 513-518
-
(1997)
Human Molecular Genetics
, vol.6
, pp. 513-518
-
-
Burright, E.N.1
Davidson, J.D.2
Duvick, L.A.3
Koshy, B.4
Zoghbi, H.Y.5
-
8
-
-
0942276360
-
The structure of the AXH domain of spinocerebellar ataxin-1
-
Chen YW, Allen MD, Veprintsev DB, Lowe J, Bycroft M (2004) The structure of the AXH domain of spinocerebellar ataxin-1. The Journal of biological chemistry 279: 3758-3765
-
(2004)
The Journal of Biological Chemistry
, vol.279
, pp. 3758-3765
-
-
Chen, Y.W.1
Allen, M.D.2
Veprintsev, D.B.3
Lowe, J.4
Bycroft, M.5
-
9
-
-
0142039037
-
The AXH module: An independently folded domain common to ataxin-1 and HBP1
-
de Chiara C, Giannini C, Adinolfi S, de Boer J, Guida S, et al. (2003) The AXH module: an independently folded domain common to ataxin-1 and HBP1. FEBS letters 551: 107-112
-
(2003)
FEBS Letters
, vol.551
, pp. 107-112
-
-
de Chiara, C.1
Giannini, C.2
Adinolfi, S.3
de Boer, J.4
Guida, S.5
-
10
-
-
28444444502
-
Polyglutamine is not all: The functional role of the AXH domain in the ataxin-1 protein
-
de Chiara C, Menon RP, Dal Piaz F, Calder L, Pastore A (2005) Polyglutamine is not all: the functional role of the AXH domain in the ataxin-1 protein. Journal of molecular biology 354: 883-893
-
(2005)
Journal of Molecular Biology
, vol.354
, pp. 883-893
-
-
de Chiara, C.1
Menon, R.P.2
Dalpiaz, F.3
Calder, L.4
Pastore, A.5
-
11
-
-
34548452053
-
Down- regulation of the dopamine receptor D2 in mice lacking ataxin 1
-
Goold R, Hubank M, Hunt A, Holton J, Menon RP, et al. (2007) Down- regulation of the dopamine receptor D2 in mice lacking ataxin 1. Human molecular genetics 16: 2122-2134
-
(2007)
Human Molecular Genetics
, vol.16
, pp. 2122-2134
-
-
Goold, R.1
Hubank, M.2
Hunt, A.3
Holton, J.4
Menon, R.P.5
-
12
-
-
33845657872
-
ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology
-
Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, et al. (2006) ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell 127: 1335-1347
-
(2006)
Cell
, vol.127
, pp. 1335-1347
-
-
Lam, Y.C.1
Bowman, A.B.2
Jafar-Nejad, P.3
Lim, J.4
Richman, R.5
-
13
-
-
25144468986
-
Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1
-
Mizutani A, Wang L, Rajan H, Vig PJ, Alaynick WA, et al. (2005) Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. The EMBO journal 24: 3339-3351
-
(2005)
The EMBO Journal
, vol.24
, pp. 3339-3351
-
-
Mizutani, A.1
Wang, L.2
Rajan, H.3
Vig, P.J.4
Alaynick, W.A.5
-
14
-
-
23944438950
-
The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins
-
Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen HK, et al. (2005) The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell 122: 633-644
-
(2005)
Cell
, vol.122
, pp. 633-644
-
-
Tsuda, H.1
Jafar-Nejad, H.2
Patel, A.J.3
Sun, Y.4
Chen, H.K.5
-
15
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
-
Klement IA, Skinner PJ, Kaytor MD, Yi H, Hersch SM, et al. (1998) Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95: 41-53
-
(1998)
Cell
, vol.95
, pp. 41-53
-
-
Klement, I.A.1
Skinner, P.J.2
Kaytor, M.D.3
Yi, H.4
Hersch, S.M.5
-
16
-
-
0037846441
-
Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice
-
Emamian ES, Kaytor MD, Duvick LA, Zu T, Tousey SK, et al. (2003) Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron 38: 375-387
-
(2003)
Neuron
, vol.38
, pp. 375-387
-
-
Emamian, E.S.1
Kaytor, M.D.2
Duvick, L.A.3
Zu, T.4
Tousey, S.K.5
-
17
-
-
0037726598
-
Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegen- eration in spinocerebellar ataxia type 1
-
Chen HK, Fernandez-Funez P, Acevedo SF, Lam YC, Kaytor MD, et al. (2003) Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegen- eration in spinocerebellar ataxia type 1. Cell 113: 457-468
-
(2003)
Cell
, vol.113
, pp. 457-468
-
-
Chen, H.K.1
Fernandez-Funez, P.2
Acevedo, S.F.3
Lam, Y.C.4
Kaytor, M.D.5
-
18
-
-
42049086100
-
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1
-
Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, et al. (2008) Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature 452: 713-718
-
(2008)
Nature
, vol.452
, pp. 713-718
-
-
Lim, J.1
Crespo-Barreto, J.2
Jafar-Nejad, P.3
Bowman, A.B.4
Richman, R.5
-
19
-
-
0037013146
-
Splicing regulation at the second catalytic step by Sex-lethal involves 39 splice site recognition by SPF45
-
Lallena MJ, Chalmers KJ, Llamazares S, Lamond AI, Valcarcel J (2002) Splicing regulation at the second catalytic step by Sex-lethal involves 39 splice site recognition by SPF45. Cell 109: 285-296
-
(2002)
Cell
, vol.109
, pp. 285-296
-
-
Lallena, M.J.1
Chalmers, K.J.2
Llamazares, S.3
Lamond, A.I.4
Valcarcel, J.5
-
20
-
-
0142182109
-
Human SPF45, a splicing factor, has limited expression in normal tissues, is overexpressed in many tumors, and can confer a multidrug-resistant phenotype to cells
-
Sampath J, Long PR, Shepard RL, Xia X, Devanarayan V, et al. (2003) Human SPF45, a splicing factor, has limited expression in normal tissues, is overexpressed in many tumors, and can confer a multidrug-resistant phenotype to cells. The American journal of pathology 163: 1781-1790
-
(2003)
The American Journal of Pathology
, vol.163
, pp. 1781-1790
-
-
Sampath, J.1
Long, P.R.2
Shepard, R.L.3
Xia, X.4
Devanarayan, V.5
-
21
-
-
34548600067
-
U2AF- homology motif interactions are required for alternative splicing regulation by SPF45
-
Corsini L, Bonnal S, Basquin J, Hothorn M, Scheffzek K, et al. (2007) U2AF- homology motif interactions are required for alternative splicing regulation by SPF45. Nature structural & molecular biology 14: 620-629
-
(2007)
Nature Structural & Molecular Biology
, vol.14
, pp. 620-629
-
-
Corsini, L.1
Bonnal, S.2
Basquin, J.3
Hothorn, M.4
Scheffzek, K.5
-
22
-
-
3042737403
-
U2AF homology motifs: Protein recognition in the RRM world
-
Kielkopf CL, Lucke S, Green MR (2004) U2AF homology motifs: protein recognition in the RRM world. Genes & development 18: 1513-1526
-
(2004)
Genes & Development
, vol.18
, pp. 1513-1526
-
-
Kielkopf, C.L.1
Lucke, S.2
Green, M.R.3
-
23
-
-
0038298868
-
Structural basis for the molecular recognition between human splicing factors U2AF65 and SF1/mBBP
-
Selenko P, Gregorovic G, Sprangers R, Stier G, Rhani Z, et al. (2003) Structural basis for the molecular recognition between human splicing factors U2AF65 and SF1/mBBP. Molecular cell 11: 965-976
-
(2003)
Molecular Cell
, vol.11
, pp. 965-976
-
-
Selenko, P.1
Gregorovic, G.2
Sprangers, R.3
Stier, G.4
Rhani, Z.5
-
24
-
-
0037168541
-
Protein composition of human prespliceosomes isolated by a tobramycin affinity- selection method
-
Hartmuth K, Urlaub H, Vornlocher HP, Will CL, Gentzel M, et al. (2002) Protein composition of human prespliceosomes isolated by a tobramycin affinity- selection method. Proceedings of the National Academy of Sciences of the United States of America 99: 16719-16724
-
(2002)
Proceedings of The National Academy of Sciences of The United States of America
, vol.99
, pp. 16719-16724
-
-
Hartmuth, K.1
Urlaub, H.2
Vornlocher, H.P.3
Will, C.L.4
Gentzel, M.5
-
25
-
-
0042671357
-
Pre-mRNA splicing: Awash in a sea of proteins
-
Jurica MS, Moore MJ (2003) Pre-mRNA splicing: awash in a sea of proteins. Molecular cell 12: 5-14
-
(2003)
Molecular Cell
, vol.12
, pp. 5-14
-
-
Jurica, M.S.1
Moore, M.J.2
-
26
-
-
33646687963
-
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration
-
Lim J, Hao T, Shaw C, Patel AJ, Szabo G, et al. (2006) A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 125: 801-814
-
(2006)
Cell
, vol.125
, pp. 801-814
-
-
Lim, J.1
Hao, T.2
Shaw, C.3
Patel, A.J.4
Szabo, G.5
-
27
-
-
0042622252
-
ELM server: A new resource for investigating short functional sites in modular eukaryotic proteins
-
Puntervoll P, Linding R, Gemund C, Chabanis-Davidson S, Mattingsdal M, et al. (2003) ELM server: A new resource for investigating short functional sites in modular eukaryotic proteins. Nucleic acids research 31: 3625-3630
-
(2003)
Nucleic Acids Research
, vol.31
, pp. 3625-3630
-
-
Puntervoll, P.1
Linding, R.2
Gemund, C.3
Chabanis-Davidson, S.4
Mattingsdal, M.5
-
28
-
-
49549122501
-
Understanding eukaryotic linear motifs and their role in cell signaling and regulation
-
Diella F, Haslam N, Chica C, Budd A, Michael S, et al. (2008) Understanding eukaryotic linear motifs and their role in cell signaling and regulation. Front Biosci 13: 6580-6603
-
(2008)
Front Biosci
, vol.13
, pp. 6580-6603
-
-
Diella, F.1
Haslam, N.2
Chica, C.3
Budd, A.4
Michael, S.5
-
30
-
-
24044538903
-
IUPred: Web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content
-
Dosztanyi Z, Csizmok V, Tompa P, Simon I (2005) IUPred: web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content. Bioinformatics (Oxford, England) 21: 3433-3434
-
(2005)
Bioinformatics (Oxford, England)
, vol.21
, pp. 3433-3434
-
-
Dosztanyi, Z.1
Csizmok, V.2
Tompa, P.3
Simon, I.4
-
31
-
-
0031470652
-
The structural basis for 14-3-3:Phosphopeptide binding specificity
-
Yaffe MB, Rittinger K, Volinia S, Caron PR, Aitken A, et al. (1997) The structural basis for 14-3-3:phosphopeptide binding specificity. Cell 91: 961-971
-
(1997)
Cell
, vol.91
, pp. 961-971
-
-
Yaffe, M.B.1
Rittinger, K.2
Volinia, S.3
Caron, P.R.4
Aitken, A.5
-
32
-
-
0033575670
-
Phosphorylation of splicing factor SF1 on Ser20 by cGMP-dependent protein kinase regulates spliceosome assembly
-
Wang X, Bruderer S, Rafi Z, Xue J, Milburn PJ, et al. (1999) Phosphorylation of splicing factor SF1 on Ser20 by cGMP-dependent protein kinase regulates spliceosome assembly. The EMBO journal 18: 4549-4559
-
(1999)
The EMBO Journal
, vol.18
, pp. 4549-4559
-
-
Wang, X.1
Bruderer, S.2
Rafi, Z.3
Xue, J.4
Milburn, P.J.5
-
33
-
-
0027613753
-
Nuclear organization of pre-mRNA processing
-
Spector DL (1993) Nuclear organization of pre-mRNA processing. Current opinion in cell biology 5: 442-447
-
(1993)
Current Opinion In Cell Biology
, vol.5
, pp. 442-447
-
-
Spector, D.L.1
-
34
-
-
38949098164
-
Signal-regulated Pre-mRNA occupancy by the general splicing factor U2AF
-
Tisserant A, Konig H (2008) Signal-regulated Pre-mRNA occupancy by the general splicing factor U2AF. PLoS ONE 3: e1418.
-
(2008)
PLoS ONE
, vol.3
-
-
Tisserant, A.1
Konig, H.2
-
35
-
-
33750053338
-
In vivo requirement of the small subunit of U2AF for recognition of a weak 39 splice site
-
Pacheco TR, Coelho MB, Desterro JM, Mollet I, Carmo-Fonseca M (2006) In vivo requirement of the small subunit of U2AF for recognition of a weak 39 splice site. Molecular and cellular biology 26: 8183-8190
-
(2006)
Molecular and Cellular Biology
, vol.26
, pp. 8183-8190
-
-
Pacheco, T.R.1
Coelho, M.B.2
Desterro, J.M.3
Mollet, I.4
Carmo-Fonseca, M.5
-
36
-
-
33847064609
-
Intranuclear immunolocalization of 14-3-3 protein isoforms in brains with spinocerebellar ataxia type 1
-
Umahara T, Uchihara T, Yagishita S, Nakamura A, Tsuchiya K, et al. (2007) Intranuclear immunolocalization of 14-3-3 protein isoforms in brains with spinocerebellar ataxia type 1. Neuroscience letters 414: 130-135
-
(2007)
Neuroscience Letters
, vol.414
, pp. 130-135
-
-
Umahara, T.1
Uchihara, T.2
Yagishita, S.3
Nakamura, A.4
Tsuchiya, K.5
-
37
-
-
58649085509
-
Dimerization and protein binding specificity of the U2AF homology motif of the splicing factor Puf60
-
Corsini L, Hothorn M, Stier G, Rybin V, Scheffzek K, et al. (2009) Dimerization and protein binding specificity of the U2AF homology motif of the splicing factor Puf60. The Journal of biological chemistry 284: 630-639
-
(2009)
The Journal of Biological Chemistry
, vol.284
, pp. 630-639
-
-
Corsini, L.1
Hothorn, M.2
Stier, G.3
Rybin, V.4
Scheffzek, K.5
-
38
-
-
35748960519
-
The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2
-
Bolger TA, Zhao X, Cohen TJ, Tsai CC, Yao TP (2007) The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2. The Journal of biological chemistry 282: 29186- 29192.
-
(2007)
The Journal of Biological Chemistry
, vol.282
, pp. 29186-29192
-
-
Bolger, T.A.1
Zhao, X.2
Cohen, T.J.3
Tsai, C.C.4
Yao, T.P.5
-
39
-
-
33750815242
-
RORalpha- mediated Purkinje cell development determines disease severity in adult SCA1 mice
-
Serra HG, Duvick L, Zu T, Carlson K, Stevens S, et al. (2006) RORalpha- mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell 127: 697-708
-
(2006)
Cell
, vol.127
, pp. 697-708
-
-
Serra, H.G.1
Duvick, L.2
Zu, T.3
Carlson, K.4
Stevens, S.5
-
40
-
-
0035168621
-
The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract
-
Yue S, Serra HG, Zoghbi HY, Orr HT (2001) The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Human molecular genetics 10: 25-30
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 25-30
-
-
Yue, S.1
Serra, H.G.2
Zoghbi, H.Y.3
Orr, H.T.4
-
41
-
-
14044266141
-
RNA association and nucleocytoplasmic shuttling by ataxin-1
-
Irwin S, Vandelft M, Pinchev D, Howell JL, Graczyk J, et al. (2005) RNA association and nucleocytoplasmic shuttling by ataxin-1. Journal of cell science 118: 233-242
-
(2005)
Journal of Cell Science
, vol.118
, pp. 233-242
-
-
Irwin, S.1
Vandelft, M.2
Pinchev, D.3
Howell, J.L.4
Graczyk, J.5
-
42
-
-
0041669439
-
Nuclear speckles: A model for nuclear organelles
-
Lamond AI, Spector DL (2003) Nuclear speckles: a model for nuclear organelles. Nature reviews 4: 605-612
-
(2003)
Nature Reviews
, vol.4
, pp. 605-612
-
-
Lamond, A.I.1
Spector, D.L.2
-
43
-
-
42349112032
-
Splicing factors SF1 and U2AF associate in extraspliceosomal complexes
-
Rino J, Desterro JM, Pacheco TR, Gadella TW Jr, Carmo-Fonseca M (2008) Splicing factors SF1 and U2AF associate in extraspliceosomal complexes. Molecular and cellular biology 28: 3045-3057
-
(2008)
Molecular and Cellular Biology
, vol.28
, pp. 3045-3057
-
-
Rino, J.1
Desterro, J.M.2
Pacheco, T.R.3
Gadella Jr., T.W.4
Carmo-Fonseca, M.5
-
44
-
-
0344198459
-
The spliceosome: The most complex macromolecular machine in the cell?
-
Nilsen TW (2003) The spliceosome: the most complex macromolecular machine in the cell? Bioessays 25: 1147-1149
-
(2003)
Bioessays
, vol.25
, pp. 1147-1149
-
-
Nilsen, T.W.1
-
45
-
-
44949246374
-
''Nought may endure but mutability'': Spliceosome dynamics and the regulation of splicing
-
Smith DJ, Query CC, Konarska MM (2008) ''Nought may endure but mutability'': spliceosome dynamics and the regulation of splicing. Molecular cell 30: 657-666.
-
(2008)
Molecular Cell
, vol.30
, pp. 657-666
-
-
Smith, D.J.1
Query, C.C.2
Konarska, M.M.3
-
47
-
-
33646097228
-
The alternative role of 14-3-3 zeta as a sweeperof misfolded proteins in disease conditions
-
Kaneko K, Hachiya NS (2006) The alternative role of 14-3-3 zeta as a sweeperof misfolded proteins in disease conditions. Medical hypotheses 67: 169-171.
-
(2006)
Medical Hypotheses
, vol.67
, pp. 169-171
-
-
Kaneko, K.1
Hachiya, N.S.2
-
48
-
-
38049080224
-
14-3-3zeta is indispensable for aggregate formation of polyglutamine-expanded huntingtin protein
-
Omi K, Hachiya NS, Tanaka M, Tokunaga K, Kaneko K (2008) 14-3-3zeta is indispensable for aggregate formation of polyglutamine-expanded huntingtin protein. Neuroscience letters 431: 45-50.
-
(2008)
Neuroscience Letters
, vol.431
, pp. 45-50
-
-
Omi, K.1
Hachiya, N.S.2
Tanaka, M.3
Tokunaga, K.4
Kaneko, K.5
-
49
-
-
65549134765
-
Pathogenic mechanisms of a polyglutaminemediated neurodegenerative disease: SCA1
-
Zoghbi HY, Orr HT (2008) Pathogenic mechanisms of a polyglutaminemediated neurodegenerative disease: SCA1. The Journal of biological chemistry 284: 7425-7429.
-
(2008)
The Journal of Biological Chemistry
, vol.284
, pp. 7425-7429
-
-
Zoghbi, H.Y.1
Orr, H.T.2
-
51
-
-
33747396563
-
Expansion of amino acid homo-sequences in proteins: Insights into the role of amino acid homo-polymers and of the proteincontext in aggregation
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Menon RP, Pastore A (2006) Expansion of amino acid homo-sequences in proteins: insights into the role of amino acid homo-polymers and of the proteincontext in aggregation. Cell Mol Life Sci 63: 1677-1685
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(2006)
Cell Mol Life Sci
, vol.63
, pp. 1677-1685
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Menon, R.P.1
Pastore, A.2
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