-
1
-
-
0030863352
-
Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
(1997)
Science
, vol.277
, pp. 228-231
-
-
Carstea, E.D.1
Morris, J.A.2
Coleman, K.G.3
Loftus, S.K.4
Zhang, D.5
Cummings, C.6
Gu, J.7
Rosenfeld, M.A.8
Pavan, W.J.9
Krizman, D.B.10
Nagle, J.11
Polymeropoulos, M.H.12
Sturley, S.L.13
Ioannou, Y.A.14
Higgins, M.E.15
Comly, M.16
Cooney, A.17
Brown, A.18
Kaneski, C.R.19
Blanchette-Mackle, E.J.20
Dwyer, N.K.21
Neufeld, E.B.22
Chang, T.-Y.23
Liscum, L.24
Strauss III, J.F.25
Ohno, K.26
Zeigler, M.27
Carmi, R.28
Sokol, J.29
Markie, D.30
O'Neill, R.R.31
Van Diggelen, O.P.32
Elleder, M.33
Patterson, M.C.34
Brady, R.O.35
Vanier, M.T.36
Pentchev, P.G.37
Tagle, D.A.38
more..
-
5
-
-
0024459132
-
Clinical spectrum of Niemann-Pick disease type C
-
(1989)
Neurology
, vol.39
, pp. 1040-1049
-
-
Fink, J.K.1
Filling-Katz, M.R.2
Sokol, J.3
Cogan, D.G.4
Pikus, A.5
Sonies, B.6
Soong, B.7
Pentchev, P.G.8
Comly, M.E.9
Brady, R.O.10
Barton, N.W.11
-
13
-
-
0008243002
-
-
Developmental Neurobiology, 3rd ed. Plenum Press, New York
-
(1991)
, pp. 401-451
-
-
Jacobson, M.1
-
14
-
-
0024794463
-
A novel α subunit in rat brain GABA(A) receptors
-
(1989)
Neuron
, vol.3
, pp. 745-753
-
-
Khrestchatisky, M.1
Maclennan, A.J.2
Chiang, M.-Y.3
Xu, W.4
Jackson, M.B.5
Brecha, N.6
Sternini, C.7
Olsen, R.8
Tobin, A.J.9
-
15
-
-
0008243393
-
-
Contemporary Neurology Series: The Neurology of Eye Movements, 3rd ed. Oxford University Press, New York
-
(1999)
, pp. 405-610
-
-
Leigh, R.J.1
Zee, D.S.2
-
17
-
-
0030768084
-
Murine model of Niemann-Pick C disease: Mutation in a cholesterol homeostasis gene
-
(1997)
Science
, vol.277
, pp. 232-235
-
-
Loftus, S.K.1
Morris, J.A.2
Carstea, E.D.3
Gu, J.Z.4
Cummings, C.5
Brown, A.6
Ellison, J.7
Ohno, K.8
Rosenfeld, M.A.9
Tagle, D.A.10
Pentchev, P.G.11
Pavan, W.J.12
-
19
-
-
0033515560
-
The Niemann-Pick C1 protein in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 9627-9635
-
-
Neufeld, E.B.1
Wastney, M.2
Patel, S.3
Suresh, S.4
Cooney, A.M.5
Dwyer, N.K.6
Roff, C.F.7
Ohno, K.8
Morris, J.A.9
Carstea, E.D.10
Incardona, J.P.11
Strauss III, J.F.12
Vanier, M.T.13
Patterson, M.C.14
Brady, R.O.15
Pentchev, P.G.16
Blanchette-Mackie, E.J.17
-
21
-
-
1642454485
-
Localization of Niemann-Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann-Pick type C disease
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 1657-1662
-
-
Patel, S.C.1
Suresh, S.2
Kumar, U.3
Hu, C.Y.4
Cooney, A.5
Blanchette-Makie, E.J.6
Neufeld, E.B.7
Patel, R.C.8
Brady, R.O.9
Patel, Y.C.10
Pentchev, P.G.11
Ong, W.-Y.12
-
22
-
-
0000815355
-
Niemann-Pick disease type C: A cellular cholesterol lipidosis
-
The Metabolic and Molecular Bases of Inherited Diseases (Scriver C. R., Stanbury J. B. Wyngaarden J. B. and Frederickson D. S. eds). McGraw-Hill, New York
-
(1995)
, pp. 2625-2639
-
-
Pentchev, P.G.1
Vanier, M.T.2
Suzuki, K.3
Patterson, M.C.4
-
24
-
-
0030728051
-
Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease
-
(1997)
Vision Res.
, vol.37
, pp. 3627-3638
-
-
Rottach, K.G.1
Von Maydell, R.D.2
Das, V.E.3
Zivotofsky, A.Z.4
Discenna, A.O.5
Gordon, J.L.6
Landis, D.M.7
Leigh, R.J.8
-
25
-
-
0029113867
-
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism
-
(1995)
Nat. Genet.
, vol.11
, pp. 170-176
-
-
Sango, K.1
Yamanaka, S.2
Hoffmann, A.3
Okuda, Y.4
Grinberg, A.5
Westphal, H.6
McDonald, M.P.7
Crawley, J.N.8
Sandhoff, K.9
Suzuki, K.10
Proia, R.L.11
-
27
-
-
0001931823
-
Cerebellum
-
The Rat Nervous System (Paxinos G., ed). Academic Press, San Diego
-
(1995)
, pp. 309-350
-
-
Voogd, J.1
-
28
-
-
0000340743
-
Somatosensory system
-
The Rat Nervous System (Paxinos G., ed). Academic Press, San Diego
-
(1995)
, pp. 705-724
-
-
Waite, P.M.E.1
Tracey, D.J.2
-
29
-
-
0029084338
-
Pyramidal neurons with ectopic dendrites in storage diseases exhibit increased GM2 ganglioside immunoreactivity
-
(1995)
Neuroscience
, vol.68
, pp. 1027-1035
-
-
Walkley, S.U.1
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