-
1
-
-
0032954796
-
Targeted disruption of the murine Nhe1 locus induces ataxia, growth retardation, and seizures
-
Bell SM, Schreiner CM, Schultheis PJ, Miller ML, Evans RL, Vorhees CV, Shull GE, Scott WJ. 1999. Targeted disruption of the murine Nhe1 locus induces ataxia, growth retardation, and seizures. Am J Physiol 276: C788-C795.
-
(1999)
Am J Physiol
, vol.276
-
-
Bell, S.M.1
Schreiner, C.M.2
Schultheis, P.J.3
Miller, M.L.4
Evans, R.L.5
Vorhees, C.V.6
Shull, G.E.7
Scott, W.J.8
-
3
-
-
67649506191
-
Tests to assess motor phenotype in mice: a user's guide
-
Brooks SP, Dunnett SB. 2009. Tests to assess motor phenotype in mice: a user's guide. Nat Rev Neurosci 10: 519-529.
-
(2009)
Nat Rev Neurosci
, vol.10
, pp. 519-529
-
-
Brooks, S.P.1
Dunnett, S.B.2
-
4
-
-
79952612712
-
Expansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast
-
Cherng N, Shishkin AA, Schlager LI, Tuck RH, Sloan L, Matera R, Sarkar PS, Ashizawa T, Freudenreich CH, Mirkin SM. 2011. Expansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast. Proc Natl Acad Sci U S A 108: 2843-2848.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 2843-2848
-
-
Cherng, N.1
Shishkin, A.A.2
Schlager, L.I.3
Tuck, R.H.4
Sloan, L.5
Matera, R.6
Sarkar, P.S.7
Ashizawa, T.8
Freudenreich, C.H.9
Mirkin, S.M.10
-
5
-
-
0031772978
-
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia
-
Grewal RP, Tayag E, Figueroa KP, Zu L, Durazo A, Nunez C, Pulst SM. 1998. Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia. Neurology 51: 1423-1426.
-
(1998)
Neurology
, vol.51
, pp. 1423-1426
-
-
Grewal, R.P.1
Tayag, E.2
Figueroa, K.P.3
Zu, L.4
Durazo, A.5
Nunez, C.6
Pulst, S.M.7
-
6
-
-
0036340277
-
Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10
-
Grewal RP, Achari M, Matsuura T, Durazo A, Tayag E, Zu L, Pulst SM, Ashizawa T. 2002. Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. Arch Neurol 59: 1285-1290.
-
(2002)
Arch Neurol
, vol.59
, pp. 1285-1290
-
-
Grewal, R.P.1
Achari, M.2
Matsuura, T.3
Durazo, A.4
Tayag, E.5
Zu, L.6
Pulst, S.M.7
Ashizawa, T.8
-
7
-
-
77954165823
-
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10
-
Keren B, Jacquette A, Depienne C, Leite P, Durr A, Carpentier W, Benyahia B, Ponsot G, Soubrier F, Brice A, Heron D. 2010. Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10. Neurogenetics 11: 273-274.
-
(2010)
Neurogenetics
, vol.11
, pp. 273-274
-
-
Keren, B.1
Jacquette, A.2
Depienne, C.3
Leite, P.4
Durr, A.5
Carpentier, W.6
Benyahia, B.7
Ponsot, G.8
Soubrier, F.9
Brice, A.10
Heron, D.11
-
8
-
-
42449109583
-
A novel cell death pathway that is partially caspase dependent, but morphologically non-apoptotic, elicited by proteasomal inhibition of rat sympathetic neurons
-
Lang-Rollin I, Dermentzaki G, Vekrellis K, Xilouri M, Rideout HJ, Stefanis L. 2008. A novel cell death pathway that is partially caspase dependent, but morphologically non-apoptotic, elicited by proteasomal inhibition of rat sympathetic neurons. J Neurochem 105: 653-665.
-
(2008)
J Neurochem
, vol.105
, pp. 653-665
-
-
Lang-Rollin, I.1
Dermentzaki, G.2
Vekrellis, K.3
Xilouri, M.4
Rideout, H.J.5
Stefanis, L.6
-
9
-
-
70450203364
-
Pathogenic mechanisms of myotonic dystrophy
-
Lee JE, Cooper TA. 2009. Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans 37: 1281-1286.
-
(2009)
Biochem Soc Trans
, vol.37
, pp. 1281-1286
-
-
Lee, J.E.1
Cooper, T.A.2
-
10
-
-
4143119185
-
Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons
-
Marz P, Probst A, Lang S, Schwager M, Rose-John S, Otten U, Ozbek S. 2004. Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons. J Biol Chem 279: 35542-35550.
-
(2004)
J Biol Chem
, vol.279
, pp. 35542-35550
-
-
Marz, P.1
Probst, A.2
Lang, S.3
Schwager, M.4
Rose-John, S.5
Otten, U.6
Ozbek, S.7
-
11
-
-
0036158131
-
Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10
-
Matsuura T, Ashizawa T. 2002. Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10. Ann Neurol 51: 271-272.
-
(2002)
Ann Neurol
, vol.51
, pp. 271-272
-
-
Matsuura, T.1
Ashizawa, T.2
-
12
-
-
0033771685
-
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
-
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T. 2000. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26: 191-194.
-
(2000)
Nat Genet
, vol.26
, pp. 191-194
-
-
Matsuura, T.1
Yamagata, T.2
Burgess, D.L.3
Rasmussen, A.4
Grewal, R.P.5
Watase, K.6
Khajavi, M.7
McCall, A.E.8
Davis, C.F.9
Zu, L.10
Achari, M.11
Pulst, S.M.12
Alonso, E.13
Noebels, J.L.14
Nelson, D.L.15
Zoghbi, H.Y.16
Ashizawa, T.17
-
13
-
-
2442687762
-
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10
-
Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. 2004. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet 74: 1216-1224.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1216-1224
-
-
Matsuura, T.1
Fang, P.2
Lin, X.3
Khajavi, M.4
Tsuji, K.5
Rasmussen, A.6
Grewal, R.P.7
Achari, M.8
Alonso, M.E.9
Pulst, S.M.10
Zoghbi, H.Y.11
Nelson, D.L.12
Roa, B.B.13
Ashizawa, T.14
-
14
-
-
29244440698
-
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?
-
Matsuura T, Fang P, Pearson CE, Jayakar P, Ashizawa T, Roa BB, Nelson DL. 2006. Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet 78: 125-129.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 125-129
-
-
Matsuura, T.1
Fang, P.2
Pearson, C.E.3
Jayakar, P.4
Ashizawa, T.5
Roa, B.B.6
Nelson, D.L.7
-
15
-
-
0030978415
-
The K nuclear shuttling domain: a novel signal for nuclear import and nuclear export in the hnRNP K protein
-
Michael WM, Eder PS, Dreyfuss G. 1997. The K nuclear shuttling domain: a novel signal for nuclear import and nuclear export in the hnRNP K protein. EMBO J 16: 3587-3598.
-
(1997)
EMBO J
, vol.16
, pp. 3587-3598
-
-
Michael, W.M.1
Eder, P.S.2
Dreyfuss, G.3
-
16
-
-
20144381544
-
Essential roles of Atg5 and FADD in autophagic cell death: dissection of autophagic cell death into vacuole formation and cell death
-
Pyo JO, Jang MH, Kwon YK, Lee HJ, Jun JI, Woo HN, Cho DH, Choi B, Lee H, Kim JH, Mizushima N, Oshumi Y, Jung YK. 2005. Essential roles of Atg5 and FADD in autophagic cell death: dissection of autophagic cell death into vacuole formation and cell death. J Biol Chem 280: 20722-20729.
-
(2005)
J Biol Chem
, vol.280
, pp. 20722-20729
-
-
Pyo, J.O.1
Jang, M.H.2
Kwon, Y.K.3
Lee, H.J.4
Jun, J.I.5
Woo, H.N.6
Cho, D.H.7
Choi, B.8
Lee, H.9
Kim, J.H.10
Mizushima, N.11
Oshumi, Y.12
Jung, Y.K.13
-
17
-
-
0033591364
-
Regulated interaction of protein kinase Cdelta with the heterogeneous nuclear ribonucleoprotein K protein
-
Schullery DS, Ostrowski J, Denisenko ON, Stempka L, Shnyreva M, Suzuki H, Gschwendt M, Bomsztyk K. 1999. Regulated interaction of protein kinase Cdelta with the heterogeneous nuclear ribonucleoprotein K protein. J Biol Chem 274: 15101-15109.
-
(1999)
J Biol Chem
, vol.274
, pp. 15101-15109
-
-
Schullery, D.S.1
Ostrowski, J.2
Denisenko, O.N.3
Stempka, L.4
Shnyreva, M.5
Suzuki, H.6
Gschwendt, M.7
Bomsztyk, K.8
-
19
-
-
33747651583
-
The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10
-
Wakamiya M, Matsuura T, Liu Y, Schuster GC, Gao R, Xu W, Sarkar PS, Lin X, Ashizawa T. 2006. The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Neurology 67: 607-613.
-
(2006)
Neurology
, vol.67
, pp. 607-613
-
-
Wakamiya, M.1
Matsuura, T.2
Liu, Y.3
Schuster, G.C.4
Gao, R.5
Xu, W.6
Sarkar, P.S.7
Lin, X.8
Ashizawa, T.9
-
20
-
-
33646354633
-
Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit
-
Waragai M, Nagamitsu S, Xu W, Li YJ, Lin X, Ashizawa T. 2006. Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. J Neurosci Res 83: 1170-1178.
-
(2006)
J Neurosci Res
, vol.83
, pp. 1170-1178
-
-
Waragai, M.1
Nagamitsu, S.2
Xu, W.3
Li, Y.J.4
Lin, X.5
Ashizawa, T.6
-
21
-
-
77954171034
-
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10
-
White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, Wakamiya M, Edwards SF, Raskin S, Teive HA, Zoghbi HY, Sarkar PS, Ashizawa T. 2010. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet 6: e1000984.
-
(2010)
PLoS Genet
, vol.6
-
-
White, M.C.1
Gao, R.2
Xu, W.3
Mandal, S.M.4
Lim, J.G.5
Hazra, T.K.6
Wakamiya, M.7
Edwards, S.F.8
Raskin, S.9
Teive, H.A.10
Zoghbi, H.Y.11
Sarkar, P.S.12
Ashizawa, T.13
-
22
-
-
3242756611
-
Genetic approaches to studying mouse models of human seizure disorders
-
Yang Y, Frankel WN. 2004. Genetic approaches to studying mouse models of human seizure disorders. Adv Exp Med Biol 548: 1-11.
-
(2004)
Adv Exp Med Biol
, vol.548
, pp. 1-11
-
-
Yang, Y.1
Frankel, W.N.2
-
23
-
-
0033069723
-
Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22
-
Zu L, Figueroa KP, Grewal R, Pulst SM. 1999. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet 64: 594-599.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 594-599
-
-
Zu, L.1
Figueroa, K.P.2
Grewal, R.3
Pulst, S.M.4
|