-
1
-
-
0027453099
-
Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)
-
Bronson, R. T., Lake, B. D., Cook, S., Taylor, S., and Davisson, M. T. (1993). Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). Ann. Neurol. 33: 381-385.
-
(1993)
Ann. Neurol.
, vol.33
, pp. 381-385
-
-
Bronson, R.T.1
Lake, B.D.2
Cook, S.3
Taylor, S.4
Davisson, M.T.5
-
2
-
-
0025201090
-
Cloning of the H,K-ATPase beta subunit. Tissue-specific expression, chromosomal assignment, and relationship to Na,K-ATPase beta subunits
-
Canfield, V., Okamoto, C., Chow, D., Dorfman, J., Gros, P., Forte, J., and Levenson, R. (1990). Cloning of the H,K-ATPase beta subunit. Tissue-specific expression, chromosomal assignment, and relationship to Na,K-ATPase beta subunits. J. Biol. Chem. 265: 19878-19884.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 19878-19884
-
-
Canfield, V.1
Okamoto, C.2
Chow, D.3
Dorfman, J.4
Gros, P.5
Forte, J.6
Levenson, R.7
-
3
-
-
0022835048
-
Lysosomal membrane glycoproteins: Properties of LAMP-1 and LAMP-2
-
Chen, J. W., Chen, G. L., D'Souza, M. P., Murphy, T. L., and August, J. T. (1986). Lysosomal membrane glycoproteins: Properties of LAMP-1 and LAMP-2. Biochem. Soc. Symp. 51: 97-112.
-
(1986)
Biochem. Soc. Symp.
, vol.51
, pp. 97-112
-
-
Chen, J.W.1
Chen, G.L.2
D'Souza, M.P.3
Murphy, T.L.4
August, J.T.5
-
4
-
-
0028341126
-
Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd), a model for neuronal ceroid lipofuscinosis
-
Faust, J. R., Rodman, J. S., Daniel, P. F., Dice, J. F., and Bronson, R. T. (1994). Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd), a model for neuronal ceroid lipofuscinosis. J. Biol. Chem. 269: 10150-10155.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 10150-10155
-
-
Faust, J.R.1
Rodman, J.S.2
Daniel, P.F.3
Dice, J.F.4
Bronson, R.T.5
-
5
-
-
0024238385
-
Cloning of cDNAs encoding human lysosomal membrane glyco-proteins, h-lamp-1 and h-lamp-2. Comparison of their deduced amino acid sequences
-
Fukuda, M., Viitala, J., Matteson, J., and Carlsson, S. R. (1988). Cloning of cDNAs encoding human lysosomal membrane glyco-proteins, h-lamp-1 and h-lamp-2. Comparison of their deduced amino acid sequences. J. Biol. Chem. 263: 18920-18928.
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 18920-18928
-
-
Fukuda, M.1
Viitala, J.2
Matteson, J.3
Carlsson, S.R.4
-
6
-
-
0026553789
-
Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis
-
Gardiner, R. M. (1992). Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis. Am. J. Med. Genet. 42: 539-541.
-
(1992)
Am. J. Med. Genet.
, vol.42
, pp. 539-541
-
-
Gardiner, R.M.1
-
7
-
-
0024462177
-
Molecular characterization of P2B/LAMP-1, a major protein target of a metastasis-associated oligosaccharide structure
-
Heffernan, M., Yousefi, S., and Dennis, J. (1989). Molecular characterization of P2B/LAMP-1, a major protein target of a metastasis-associated oligosaccharide structure. Cancer Res. 49: 6077-6084.
-
(1989)
Cancer Res.
, vol.49
, pp. 6077-6084
-
-
Heffernan, M.1
Yousefi, S.2
Dennis, J.3
-
8
-
-
0028049934
-
Mapping the gene that encodes phosphatidyl-inositol specific phospholipase C-γ2 in the human and the mouse
-
Hernandez, D., Yulug, I. G., Egan, S. E., and Fisher, E. M. C. (1994). Mapping the gene that encodes phosphatidyl-inositol specific phospholipase C-γ2 in the human and the mouse. Genomics 23: 504-507.
-
(1994)
Genomics
, vol.23
, pp. 504-507
-
-
Hernandez, D.1
Yulug, I.G.2
Egan, S.E.3
Fisher, E.M.C.4
-
9
-
-
0026525825
-
Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis on 1p
-
Jarvela, I., Santavuori, P., Puhakka, L., Haltia, M., and Peltonen, L. (1992). Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis on 1p. Am. J. Med. Genet. 42: 546-548.
-
(1992)
Am. J. Med. Genet.
, vol.42
, pp. 546-548
-
-
Jarvela, I.1
Santavuori, P.2
Puhakka, L.3
Haltia, M.4
Peltonen, L.5
-
10
-
-
0029147298
-
Isolation of a novel gene underlying Batten disease, CLN3
-
Lerner, T. J., Boustany, R.-M. N., Anderson, J. W., D'Arigo, K. L., Schlumpf, K., Buckler, A. J., Gusella, J. F., Haines, J. L., Taschner, P. E. M., de Vos, N., van Ommen, G.-J. B., Breuning, M. H., Doggett, N. A., Meincke, L. J., Liu, Z.-Y., Goodwin, L. A., Tesmer, J. G., Mitchison, H. M., O'Rawe, A. M., Munroe, P. B., Järvelä, I. E., Gardiner, R. M., and Mole, S. E. (1995). Isolation of a novel gene underlying Batten disease, CLN3. Cell 82: 949-957.
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
Lerner, T.J.1
Boustany, R.-M.N.2
Anderson, J.W.3
D'Arigo, K.L.4
Schlumpf, K.5
Buckler, A.J.6
Gusella, J.F.7
Haines, J.L.8
Taschner, P.E.M.9
De Vos, N.10
Van Ommen, G.-J.B.11
Breuning, M.H.12
Doggett, N.A.13
Meincke, L.J.14
Liu, Z.-Y.15
Goodwin, L.A.16
Tesmer, J.G.17
Mitchison, H.M.18
O'Rawe, A.M.19
Munroe, P.B.20
Järvelä, I.E.21
Gardiner, R.M.22
Mole, S.E.23
more..
-
11
-
-
0025349669
-
Two human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2, are encoded by genes localized to chromosome 13q34 and chromosome Xq24-25, respectively
-
Mattei, M. G., Matterson, J., Chen, J. W., Williams, M. A., and Fukuda, M. T. I. (1990). Two human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2, are encoded by genes localized to chromosome 13q34 and chromosome Xq24-25, respectively. J. Biol. Chem. 265: 7548-7451.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 7548-17451
-
-
Mattei, M.G.1
Matterson, J.2
Chen, J.W.3
Williams, M.A.4
Fukuda, M.T.I.5
-
12
-
-
0022976796
-
Autosomal dominance in a late-onset motor neuron disease in the mouse
-
Messer, A., and Flaherty, L. (1986). Autosomal dominance in a late-onset motor neuron disease in the mouse. J. Neurogenet. 3: 345-355.
-
(1986)
J. Neurogenet.
, vol.3
, pp. 345-355
-
-
Messer, A.1
Flaherty, L.2
-
13
-
-
0023212297
-
Histopathology of the late-onset motor neuron degeneration (Mnd) mutant in the mouse
-
Messer, A., Strominger, N. L., and Mazurkiewicz, J. E. (1987). Histopathology of the late-onset motor neuron degeneration (Mnd) mutant in the mouse. J. Neurogenet. 4: 201-213.
-
(1987)
J. Neurogenet.
, vol.4
, pp. 201-213
-
-
Messer, A.1
Strominger, N.L.2
Mazurkiewicz, J.E.3
-
14
-
-
0028240480
-
Accumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse
-
Pardo, C. A., Rabin, B. A., Palmer, D. N., and Price, D. L. (1994). Accumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse. Am. J. Pathol. 144: 829-835.
-
(1994)
Am. J. Pathol.
, vol.144
, pp. 829-835
-
-
Pardo, C.A.1
Rabin, B.A.2
Palmer, D.N.3
Price, D.L.4
-
15
-
-
0028041361
-
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses
-
Savukoski, M., Kestila, M., Williams, R., Jarvela, I., Sharp, J., Harris, J., Santavuori, P., Gardiner, M., and Peltonen, L. (1994). Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. Am. J. Hum. Genet. 55: 695-701.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 695-701
-
-
Savukoski, M.1
Kestila, M.2
Williams, R.3
Jarvela, I.4
Sharp, J.5
Harris, J.6
Santavuori, P.7
Gardiner, M.8
Peltonen, L.9
-
16
-
-
0027513948
-
The genes of major lysosomal membrane glycoproteins Lamp-1 and Lamp-2
-
Sawada, R., Jardine, K. A., and Fukuda, M. (1993). The genes of major lysosomal membrane glycoproteins Lamp-1 and Lamp-2. J. Biol. Chem. 268: 9014-9022.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 9014-9022
-
-
Sawada, R.1
Jardine, K.A.2
Fukuda, M.3
-
17
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa, J., Hellsten, E., Verkruyse, L. A., Camp, L. A., Rapola, J., Santavuori, P., Hofmann, S. L., and Peltonen, L. (1995). Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376: 584-587.
-
(1995)
Nature
, vol.376
, pp. 584-587
-
-
Vesa, J.1
Hellsten, E.2
Verkruyse, L.A.3
Camp, L.A.4
Rapola, J.5
Santavuori, P.6
Hofmann, S.L.7
Peltonen, L.8
-
18
-
-
0028108861
-
Mapping GRB2, a signal transduction gene in the human and the mouse
-
Yulug, I. G., Egan, S. E., See, C. G., and Fisher, E. M. C. (1994). Mapping GRB2, a signal transduction gene in the human and the mouse. Genomics 22: 318-318.
-
(1994)
Genomics
, vol.22
, pp. 318-318
-
-
Yulug, I.G.1
Egan, S.E.2
See, C.G.3
Fisher, E.M.C.4
-
19
-
-
0029036463
-
An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4
-
Yulug, I. G., Katsanis, N., de Belleroche, J., Collinge, J., and Fisher, E. M. C. (1995). An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4. Hum. Mol. Genet. 6: 1101-1104.
-
(1995)
Hum. Mol. Genet.
, vol.6
, pp. 1101-1104
-
-
Yulug, I.G.1
Katsanis, N.2
De Belleroche, J.3
Collinge, J.4
Fisher, E.M.C.5
|