-
1
-
-
0023588096
-
Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts
-
Pentchev P., Comly M., Kruth H., et al. Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts. Faseb J 1 (1987) 40-45
-
(1987)
Faseb J
, vol.1
, pp. 40-45
-
-
Pentchev, P.1
Comly, M.2
Kruth, H.3
-
2
-
-
4944230810
-
Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport
-
Liscum L., and Sturley S. Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport. Biochim Biophys Acta 1685 (2004) 22-27
-
(2004)
Biochim Biophys Acta
, vol.1685
, pp. 22-27
-
-
Liscum, L.1
Sturley, S.2
-
3
-
-
0033361755
-
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype
-
Millat G., Marcais C., Rafi M., et al. Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. Am J Hum Genet 65 (1999) 1321-1329
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1321-1329
-
-
Millat, G.1
Marcais, C.2
Rafi, M.3
-
4
-
-
0017529666
-
Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes
-
Wenger D., Barth G., and Githens J. Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes. Am J Dis Child 131 (1977) 955-961
-
(1977)
Am J Dis Child
, vol.131
, pp. 955-961
-
-
Wenger, D.1
Barth, G.2
Githens, J.3
-
5
-
-
0018168776
-
Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D)
-
Winsor E., and Welch J. Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D). Am J Hum Genet 30 (1978) 530-538
-
(1978)
Am J Hum Genet
, vol.30
, pp. 530-538
-
-
Winsor, E.1
Welch, J.2
-
6
-
-
0030863352
-
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
-
Carstea E., Morris J., Coleman K., et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277 (1997) 228-231
-
(1997)
Science
, vol.277
, pp. 228-231
-
-
Carstea, E.1
Morris, J.2
Coleman, K.3
-
7
-
-
0034704245
-
Identification of HE1 as the second gene of Niemann-Pick C disease
-
Naureckiene S., Sleat D., Lackland H., et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290 (2000) 2298-2301
-
(2000)
Science
, vol.290
, pp. 2298-2301
-
-
Naureckiene, S.1
Sleat, D.2
Lackland, H.3
-
8
-
-
0035824522
-
Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function
-
Frolov A., Srivastava K., Daphna-Iken D., Traub L., Schaffer J., and Ory D. Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function. J Biol Chem 276 (2001) 46414-46421
-
(2001)
J Biol Chem
, vol.276
, pp. 46414-46421
-
-
Frolov, A.1
Srivastava, K.2
Daphna-Iken, D.3
Traub, L.4
Schaffer, J.5
Ory, D.6
-
9
-
-
2942672495
-
Secondary accumulation of gangliosides in lysosomal storage disorders
-
Walkley S. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol 15 (2004) 433-444
-
(2004)
Semin Cell Dev Biol
, vol.15
, pp. 433-444
-
-
Walkley, S.1
-
10
-
-
0029612229
-
GM2 ganglioside and pyramidal neuron dendritogenesis
-
Walkley S., Siegel D., and Dobrenis K. GM2 ganglioside and pyramidal neuron dendritogenesis. Neurochem Res 20 (1995) 1287-1299
-
(1995)
Neurochem Res
, vol.20
, pp. 1287-1299
-
-
Walkley, S.1
Siegel, D.2
Dobrenis, K.3
-
11
-
-
33644783621
-
The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals
-
Karten B., Campenot R., Vance D., and Vance J. The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals. J Lipid Res 47 (2006) 504-514
-
(2006)
J Lipid Res
, vol.47
, pp. 504-514
-
-
Karten, B.1
Campenot, R.2
Vance, D.3
Vance, J.4
-
12
-
-
4744365602
-
Consequences of NPC1 and NPC2 loss of function in mammalian neurons
-
Walkley S., and Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta 1685 (2004) 48-62
-
(2004)
Biochim Biophys Acta
, vol.1685
, pp. 48-62
-
-
Walkley, S.1
Suzuki, K.2
-
13
-
-
22144436233
-
Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology
-
Solomon D., Winkelman A., Zee D., Gray L., and Buttner-Ennever J. Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology. Ann N Y Acad Sci 1039 (2005) 436-445
-
(2005)
Ann N Y Acad Sci
, vol.1039
, pp. 436-445
-
-
Solomon, D.1
Winkelman, A.2
Zee, D.3
Gray, L.4
Buttner-Ennever, J.5
-
14
-
-
0344875214
-
A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C
-
Patterson M. A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C. Neurologist 9 (2003) 301-310
-
(2003)
Neurologist
, vol.9
, pp. 301-310
-
-
Patterson, M.1
-
16
-
-
33646722321
-
The neuropsychiatry of Niemann-Pick type C disease in adulthood
-
Walterfang M., Fietz M., Fahey M., et al. The neuropsychiatry of Niemann-Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci 18 (2006) 158-170
-
(2006)
J Neuropsychiatry Clin Neurosci
, vol.18
, pp. 158-170
-
-
Walterfang, M.1
Fietz, M.2
Fahey, M.3
-
17
-
-
33745195994
-
Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid
-
Oyama K., Takahashi T., Shoji Y., et al. Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid. Tohoku J Exp Med 209 (2006) 263-267
-
(2006)
Tohoku J Exp Med
, vol.209
, pp. 263-267
-
-
Oyama, K.1
Takahashi, T.2
Shoji, Y.3
-
18
-
-
0000831301
-
Niemann-Pick disease, type C: a lipid trafficking disorder
-
Scriver C., Beaudet A., Sly W., et al. (Eds), McGraw-Hill, New York
-
Patterson M., Vanier M., Suzuki K., et al. Niemann-Pick disease, type C: a lipid trafficking disorder. In: Scriver C., Beaudet A., Sly W., et al. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th edn. (2001), McGraw-Hill, New York 3611-3633
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease. 8th edn.
, pp. 3611-3633
-
-
Patterson, M.1
Vanier, M.2
Suzuki, K.3
-
19
-
-
0030728051
-
Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease
-
Rottach K., von Maydell R., Das V., et al. Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease. Vision Res 37 (1997) 3627-3638
-
(1997)
Vision Res
, vol.37
, pp. 3627-3638
-
-
Rottach, K.1
von Maydell, R.2
Das, V.3
-
20
-
-
0034059243
-
Abnormal vertical optokinetic nystagmus in infants and children
-
Garbutt S., and Harris C. Abnormal vertical optokinetic nystagmus in infants and children. Br J Ophthalmol 84 (2000) 451-455
-
(2000)
Br J Ophthalmol
, vol.84
, pp. 451-455
-
-
Garbutt, S.1
Harris, C.2
-
21
-
-
0015548903
-
A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients
-
Neville B., Lake B., Stephens R., and Sanders M. A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients. Brain 96 (1973) 97-120
-
(1973)
Brain
, vol.96
, pp. 97-120
-
-
Neville, B.1
Lake, B.2
Stephens, R.3
Sanders, M.4
-
22
-
-
4744339285
-
Therapy of Niemann-Pick disease, type C
-
Patterson M., and Platt F. Therapy of Niemann-Pick disease, type C. Biochim Biophys Acta 1685 (2004) 77-82
-
(2004)
Biochim Biophys Acta
, vol.1685
, pp. 77-82
-
-
Patterson, M.1
Platt, F.2
-
23
-
-
33644833389
-
New developments in treating glycosphingolipid storage diseases
-
Platt F., Jeyakumar M., Andersson U., Dwek R., and Butters T. New developments in treating glycosphingolipid storage diseases. Adv Exp Med Biol 564 (2005) 117-126
-
(2005)
Adv Exp Med Biol
, vol.564
, pp. 117-126
-
-
Platt, F.1
Jeyakumar, M.2
Andersson, U.3
Dwek, R.4
Butters, T.5
-
24
-
-
0028176432
-
N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis
-
Platt F., Neises G., Dwek R., and Butters T. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem 269 (1994) 8362-8365
-
(1994)
J Biol Chem
, vol.269
, pp. 8362-8365
-
-
Platt, F.1
Neises, G.2
Dwek, R.3
Butters, T.4
-
25
-
-
33744951603
-
Emerging strategies for the treatment of hereditary metabolic storage disorders
-
Brady R. Emerging strategies for the treatment of hereditary metabolic storage disorders. Rejuvenation Res 9 (2006) 237-244
-
(2006)
Rejuvenation Res
, vol.9
, pp. 237-244
-
-
Brady, R.1
-
26
-
-
25144442267
-
Storage solutions: treating lysosomal disorders of the brain
-
Jeyakumar M., Dwek R., Butters T., and Platt F. Storage solutions: treating lysosomal disorders of the brain. Nat Rev Neurosci 6 (2005) 713-725
-
(2005)
Nat Rev Neurosci
, vol.6
, pp. 713-725
-
-
Jeyakumar, M.1
Dwek, R.2
Butters, T.3
Platt, F.4
-
27
-
-
0035928841
-
Critical role for glycosphingolipids in Niemann-Pick disease type C
-
Zervas M., Somers K., Thrall M., and Walkley S. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol 11 (2001) 1283-1287
-
(2001)
Curr Biol
, vol.11
, pp. 1283-1287
-
-
Zervas, M.1
Somers, K.2
Thrall, M.3
Walkley, S.4
-
28
-
-
3242741280
-
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C
-
Lachmann R., te Vruchte D., Lloyd-Evans E., et al. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis 16 (2004) 654-658
-
(2004)
Neurobiol Dis
, vol.16
, pp. 654-658
-
-
Lachmann, R.1
te Vruchte, D.2
Lloyd-Evans, E.3
-
29
-
-
0034728914
-
A novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox T., Lachmann R., Hollak C., et al. A novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355 (2000) 1481-1485
-
(2000)
Lancet
, vol.355
, pp. 1481-1485
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
-
30
-
-
7244254360
-
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease
-
Elstein D., Hollak C., Aerts J., et al. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 27 (2004) 757-766
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 757-766
-
-
Elstein, D.1
Hollak, C.2
Aerts, J.3
-
31
-
-
25844512590
-
An open-label, noncomparative study of miglustat in Type I Gaucher disease: efficacy and tolerability over 24 months of treatment
-
Pastores G., Barnett N., and Kolodny E. An open-label, noncomparative study of miglustat in Type I Gaucher disease: efficacy and tolerability over 24 months of treatment. Clin Ther 27 (2005) 1215-1227
-
(2005)
Clin Ther
, vol.27
, pp. 1215-1227
-
-
Pastores, G.1
Barnett, N.2
Kolodny, E.3
-
32
-
-
0032611586
-
[Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C]
-
Lengyel D., Weissert M., Schmid L., and Gottlob I. [Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C]. Klin Monatsbl Augenheilkd 214 (1999) 50-52
-
(1999)
Klin Monatsbl Augenheilkd
, vol.214
, pp. 50-52
-
-
Lengyel, D.1
Weissert, M.2
Schmid, L.3
Gottlob, I.4
-
33
-
-
0022269732
-
On the identification and analysis of saccadic eye movements-a quantitative study of the processing procedures
-
Inchingolo P., and Spanio M. On the identification and analysis of saccadic eye movements-a quantitative study of the processing procedures. IEEE Trans Biomed Eng 32 (1985) 683-695
-
(1985)
IEEE Trans Biomed Eng
, vol.32
, pp. 683-695
-
-
Inchingolo, P.1
Spanio, M.2
-
34
-
-
0027535558
-
Benzodiazepine pharmacodynamics: utility of eye movement measures
-
Roy-Byrne P., Cowley D., Radant A., Hommer D., and Greenblatt D. Benzodiazepine pharmacodynamics: utility of eye movement measures. Psychopharmacology (Berl) 110 (1993) 85-91
-
(1993)
Psychopharmacology (Berl)
, vol.110
, pp. 85-91
-
-
Roy-Byrne, P.1
Cowley, D.2
Radant, A.3
Hommer, D.4
Greenblatt, D.5
-
35
-
-
33846412228
-
The natural history of Niemann-Pick disease type C in the UK
-
Imrie J., Dasgupta S., Besley G., et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis 30 (2007) 51-59
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 51-59
-
-
Imrie, J.1
Dasgupta, S.2
Besley, G.3
-
36
-
-
33947314170
-
The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat
-
Treiber A., Morand O., and Clozel M. The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat. Xenobiotica 37 (2007) 298-314
-
(2007)
Xenobiotica
, vol.37
, pp. 298-314
-
-
Treiber, A.1
Morand, O.2
Clozel, M.3
|