-
2
-
-
0026073577
-
A clinical, haematological and pathological study of 19 cases
-
Hardie R.J., Pullon H.W., Harding A.E., Owen J.S., Pires M., Daniels G.L., Imai Y., Misra V.P., King R.H., Jacobs J.M., et al. A clinical, haematological and pathological study of 19 cases. Brain 114 Pt. 1A (1991) 13-49
-
(1991)
Brain
, vol.114
, Issue.PART 1A
, pp. 13-49
-
-
Hardie, R.J.1
Pullon, H.W.2
Harding, A.E.3
Owen, J.S.4
Pires, M.5
Daniels, G.L.6
Imai, Y.7
Misra, V.P.8
King, R.H.9
Jacobs, J.M.10
-
3
-
-
0034967701
-
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
-
Ueno S., Maruki Y., Nakamura M., Tomemori Y., Kamae K., Tanabe H., Yamashita Y., Matsuda S., Kaneko S., and Sano A. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat. Genet. 28 (2001) 121-122
-
(2001)
Nat. Genet.
, vol.28
, pp. 121-122
-
-
Ueno, S.1
Maruki, Y.2
Nakamura, M.3
Tomemori, Y.4
Kamae, K.5
Tanabe, H.6
Yamashita, Y.7
Matsuda, S.8
Kaneko, S.9
Sano, A.10
-
4
-
-
0034972973
-
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
-
Rampoldi L., Dobson-Stone C., Rubio J.P., Danek A., Chalmers R.M., Wood N.W., Verellen C., Ferrer X., Malandrini A., Fabrizi G.M., Brown R., Vance J., Pericak-Vance M., Rudolf G., Carre S., Alonso E., Manfredi M., Nemeth A.H., and Monaco A.P. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat. Genet. 28 (2001) 119-120
-
(2001)
Nat. Genet.
, vol.28
, pp. 119-120
-
-
Rampoldi, L.1
Dobson-Stone, C.2
Rubio, J.P.3
Danek, A.4
Chalmers, R.M.5
Wood, N.W.6
Verellen, C.7
Ferrer, X.8
Malandrini, A.9
Fabrizi, G.M.10
Brown, R.11
Vance, J.12
Pericak-Vance, M.13
Rudolf, G.14
Carre, S.15
Alonso, E.16
Manfredi, M.17
Nemeth, A.H.18
Monaco, A.P.19
-
5
-
-
3843080710
-
Chorein detection for the diagnosis of chorea-acanthocytosis
-
Dobson-Stone C., Velayos-Baeza A., Filippone L.A., Westbury S., Storch A., Erdmann T., Wroe S.J., Leenders K.L., Lang A.E., Dotti M.T., Federico A., Mohiddin S.A., Fananapazir L., Daniels G., Danek A., and Monaco A.P. Chorein detection for the diagnosis of chorea-acanthocytosis. Ann. Neurol. 56 (2004) 299-302
-
(2004)
Ann. Neurol.
, vol.56
, pp. 299-302
-
-
Dobson-Stone, C.1
Velayos-Baeza, A.2
Filippone, L.A.3
Westbury, S.4
Storch, A.5
Erdmann, T.6
Wroe, S.J.7
Leenders, K.L.8
Lang, A.E.9
Dotti, M.T.10
Federico, A.11
Mohiddin, S.A.12
Fananapazir, L.13
Daniels, G.14
Danek, A.15
Monaco, A.P.16
-
6
-
-
0033050626
-
Tip genes act in parallel pathways of early Dictyostelium development
-
Stege J.T., Laub M.T., and Loomis W.F. Tip genes act in parallel pathways of early Dictyostelium development. Dev. Genet. 25 (1999) 64-77
-
(1999)
Dev. Genet.
, vol.25
, pp. 64-77
-
-
Stege, J.T.1
Laub, M.T.2
Loomis, W.F.3
-
7
-
-
13644263163
-
A gene-targeted mouse model for chorea-acanthocytosis
-
Tomemori Y., Ichiba M., Kusumoto A., Mizuno E., Sato D., Muroya S., Nakamura M., Kawaguchi H., Yoshida H., Ueno S., Nakao K., Nakamura K., Aiba A., Katsuki M., and Sano A. A gene-targeted mouse model for chorea-acanthocytosis. J. Neurochem. 92 (2005) 759-766
-
(2005)
J. Neurochem.
, vol.92
, pp. 759-766
-
-
Tomemori, Y.1
Ichiba, M.2
Kusumoto, A.3
Mizuno, E.4
Sato, D.5
Muroya, S.6
Nakamura, M.7
Kawaguchi, H.8
Yoshida, H.9
Ueno, S.10
Nakao, K.11
Nakamura, K.12
Aiba, A.13
Katsuki, M.14
Sano, A.15
-
8
-
-
27644469489
-
Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse
-
Schmitt-John T., Drepper C., Mussmann A., Hahn P., Kuhlmann M., Thiel C., Hafner M., Lengeling A., Heimann P., Jones J.M., Meisler M.H., and Jockusch H. Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nat. Genet. 37 (2005) 1213-1215
-
(2005)
Nat. Genet.
, vol.37
, pp. 1213-1215
-
-
Schmitt-John, T.1
Drepper, C.2
Mussmann, A.3
Hahn, P.4
Kuhlmann, M.5
Thiel, C.6
Hafner, M.7
Lengeling, A.8
Heimann, P.9
Jones, J.M.10
Meisler, M.H.11
Jockusch, H.12
-
9
-
-
0030762073
-
SOI1 encodes a novel, conserved protein that promotes TGN-endosomal cycling of Kex2p and other membrane proteins by modulating the function of two TGN localization signals
-
Brickner J.H., and Fuller R.S. SOI1 encodes a novel, conserved protein that promotes TGN-endosomal cycling of Kex2p and other membrane proteins by modulating the function of two TGN localization signals. J. Cell Biol. 139 (1997) 23-36
-
(1997)
J. Cell Biol.
, vol.139
, pp. 23-36
-
-
Brickner, J.H.1
Fuller, R.S.2
-
10
-
-
0029833575
-
Allele-specific suppression of a defective trans-Golgi network (TGN) localization signal in Kex2p identifies three genes involved in localization of TGN transmembrane proteins
-
Redding K., Brickner J.H., Marschall L.G., Nichols J.W., and Fuller R.S. Allele-specific suppression of a defective trans-Golgi network (TGN) localization signal in Kex2p identifies three genes involved in localization of TGN transmembrane proteins. Mol. Cell. Biol. 16 (1996) 6208-6217
-
(1996)
Mol. Cell. Biol.
, vol.16
, pp. 6208-6217
-
-
Redding, K.1
Brickner, J.H.2
Marschall, L.G.3
Nichols, J.W.4
Fuller, R.S.5
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