-
1
-
-
0001962445
-
The cerebral defect in Tay-Sachs disease and Niemann-Pick disease
-
Crocker AC, The cerebral defect in Tay-Sachs disease and Niemann-Pick disease, J Neurochem, 1961;7:69-80
-
(1961)
J Neurochem
, vol.7
, pp. 69-80
-
-
Crocker, A.C.1
-
2
-
-
72949126543
-
Sphingomyelin synthesis in Niemann-Pick disease
-
Crocker AC, Mays VB, Sphingomyelin synthesis in Niemann-Pick disease, Am J Clin Nutr, 1961;9:63-7
-
(1961)
Am J Clin Nutr
, vol.9
, pp. 63-67
-
-
Crocker, A.C.1
Mays, V.B.2
-
3
-
-
33746285256
-
Niemann-Pick type C disease in a 68-year-old patient
-
Trendelenburg G, Vanier MT, Maza S, et al., Niemann-Pick type C disease in a 68-year-old patient, J Neurol Neurosurg Psychiatry, 2006;77:997-8.
-
(2006)
J Neurol Neurosurg Psychiatry
, vol.77
, pp. 997-998
-
-
Trendelenburg, G.1
Vanier, M.T.2
Maza, S.3
-
4
-
-
33846412228
-
The natural history of Niemann-Pick disease type C in the UK
-
Imrie J, Dasgupta S, Besley GT, et al., The natural history of Niemann-Pick disease type C in the UK, J Inherit Metab Dis, 2007;30:51-9.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 51-59
-
-
Imrie, J.1
Dasgupta, S.2
Besley, G.T.3
-
5
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
Meikle PJ, Hopwood JJ, Clague AE, et al., Prevalence of lysosomal storage disorders, JAMA, 1999;281:249-54.
-
(1999)
JAMA
, vol.281
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
-
6
-
-
10744233030
-
Prevalence of lysosomal storage diseases in Portugal
-
Pinto R, Caseiro C, Lemos M, et al., Prevalence of lysosomal storage diseases in Portugal, Eur J Hum Genet, 2004;12:87-92.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 87-92
-
-
Pinto, R.1
Caseiro, C.2
Lemos, M.3
-
7
-
-
77953019480
-
Niemann-Pick disease type C
-
Vanier MT, Niemann-Pick disease type C, Orphanet J Rare Dis, 2010;5:16
-
(2010)
Orphanet J Rare Dis
, vol.5
, pp. 16
-
-
Vanier, M.T.1
-
8
-
-
0141886877
-
Niemann-Pick disease type C
-
Vanier MT, Millat G, Niemann-Pick disease type C, Clin Genet, 2003;64:269-81
-
(2003)
Clin Genet
, vol.64
, pp. 269-281
-
-
Vanier, M.T.1
Millat, G.2
-
9
-
-
34547753513
-
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
-
Patterson MC, Vecchio D, Prady H, et al., Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study, Lancet Neurol, 2007;6:765-72.
-
(2007)
Lancet Neurol
, vol.6
, pp. 765-772
-
-
Patterson, M.C.1
Vecchio, D.2
Prady, H.3
-
10
-
-
0030863352
-
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
-
Carstea ED, Morris JA, Coleman KG, et al., Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis, Science, 1997;277:228-31.
-
(1997)
Science
, vol.277
, pp. 228-231
-
-
Carstea, E.D.1
Morris, J.A.2
Coleman, K.G.3
-
11
-
-
0032887393
-
Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network
-
Higgins ME, Davies JP, Chen FW, et al., Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network, Mol Genet Metab, 1999;68:1-13.
-
(1999)
Mol Genet Metab
, vol.68
, pp. 1-13
-
-
Higgins, M.E.1
Davies, J.P.2
Chen, F.W.3
-
12
-
-
0034987798
-
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
-
Millat G, Marcais C, Tomasetto C, et al., Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop, Am J Hum Genet, 2001;68:1373-85.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1373-1385
-
-
Millat, G.1
Marcais, C.2
Tomasetto, C.3
-
13
-
-
0344838432
-
The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels
-
Ko DC, Binkley J, Sidow A, et al., The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels, Proc Natl Acad Sci USA, 2003;100:2518-25.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 2518-2525
-
-
Ko, D.C.1
Binkley, J.2
Sidow, A.3
-
14
-
-
0034704245
-
Identification of HE1 as the second gene of Niemann-Pick C disease
-
Naureckiene S, Sleat DE, Lackland H, et al., Identification of HE1 as the second gene of Niemann-Pick C disease, Science, 2000;290:2298-301.
-
(2000)
Science
, vol.290
, pp. 2298-2301
-
-
Naureckiene, S.1
Sleat, D.E.2
Lackland, H.3
-
15
-
-
0027512555
-
Linkage of Niemann-Pick disease type C to human chromosome 18
-
Carstea ED, Polymeropoulos MH, Parker CC, et al., Linkage of Niemann-Pick disease type C to human chromosome 18, Proc Natl Acad Sci USA, 1993;90:2002-4.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 2002-2004
-
-
Carstea, E.D.1
Polymeropoulos, M.H.2
Parker, C.C.3
-
16
-
-
0036745795
-
Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease
-
Kaminski WE, Klunemann HH, Ibach B, et al., Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease, J Inherit Metab Dis, 2002;25:385-9.
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 385-389
-
-
Kaminski, W.E.1
Klunemann, H.H.2
Ibach, B.3
-
17
-
-
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 MA, 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, 1999;65:1321-9.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1321-1329
-
-
Millat, G.1
Marcais, C.2
Rafi, M.A.3
-
18
-
-
0036895321
-
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2
-
Klunemann HH, Elleder M, Kaminski WE, et al., Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2, Ann Neurol, 2002;52:743-9.
-
(2002)
Ann Neurol
, vol.52
, pp. 743-749
-
-
Klunemann, H.H.1
Elleder, M.2
Kaminski, W.E.3
-
19
-
-
0029655528
-
Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis
-
Vanier MT, Duthel S, Rodriguez-Lafrasse C, et al., Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis, Am J Hum Genet, 1996;58:118-25.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 118-125
-
-
Vanier, M.T.1
Duthel, S.2
Rodriguez-Lafrasse, C.3
-
20
-
-
0032841387
-
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
-
Yamamoto T, Nanba E, Ninomiya H, et al., NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C, Hum Genet, 1999;105:10-6.
-
(1999)
Hum Genet
, vol.105
, pp. 10-16
-
-
Yamamoto, T.1
Nanba, E.2
Ninomiya, H.3
-
21
-
-
51849116835
-
The pathogenesis of Niemann-Pick type C disease: a role for autophagy?
-
Pacheco CD, Lieberman AP, The pathogenesis of Niemann-Pick type C disease: a role for autophagy?, Expert Rev Mol Med, 2008;10:e26
-
(2008)
Expert Rev Mol Med
, vol.10
-
-
Pacheco, C.D.1
Lieberman, A.P.2
-
22
-
-
4744365602
-
Consequences of NPC1 and NPC2 loss of function in mammalian neurons
-
Walkley SU, Suzuki K, Consequences of NPC1 and NPC2 loss of function in mammalian neurons, Biochim Biophys Acta, 2004;1685:48-62
-
(2004)
Biochim Biophys Acta
, vol.1685
, pp. 48-62
-
-
Walkley, S.U.1
Suzuki, K.2
-
23
-
-
0000831301
-
Niemann-Pick disease type C: a lipid trafficking disorder
-
(eds). New York: McGraw Hill
-
Patterson MC, Vanier MT, Suzuki K, et al. (eds), Niemann-Pick disease type C: a lipid trafficking disorder. In: The Metabolic and Molecular Bases of Inherited Disease, New York: McGraw Hill, 16(145):3611-33.
-
The Metabolic and Molecular Bases of Inherited Disease
, vol.16
, Issue.145
, pp. 3611-3633
-
-
Patterson, M.C.1
Vanier, M.T.2
Suzuki, K.3
-
24
-
-
33845910402
-
The adult form of Niemann-Pick disease type C
-
Sevin M, Lesca G, Baumann N, et al., The adult form of Niemann-Pick disease type C, Brain, 2007;130:120-33.
-
(2007)
Brain
, vol.130
, pp. 120-133
-
-
Sevin, M.1
Lesca, G.2
Baumann, N.3
-
25
-
-
0037379834
-
Adult onset Niemann-Pick disease type C presenting with psychosis
-
Josephs KA, Van Gerpen MW, Van Gerpen JA, Adult onset Niemann-Pick disease type C presenting with psychosis, J Neurol Neurosurg Psychiatry, 2003;74:528-9
-
(2003)
J Neurol Neurosurg Psychiatry
, vol.74
, pp. 528-529
-
-
Josephs, K.A.1
Van Gerpen, M.W.2
Van Gerpen, J.A.3
-
26
-
-
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, 2006;18:158-70.
-
(2006)
J Neuropsychiatry Clin Neurosci
, vol.18
, pp. 158-170
-
-
Walterfang, M.1
Fietz, M.2
Fahey, M.3
-
27
-
-
84897928469
-
Post-ictal psychosis in adolescent Niemann-Pick disease type C
-
[Epub ahead of print]
-
Walterfang M, Kornberg A, Adams S, et al., Post-ictal psychosis in adolescent Niemann-Pick disease type C, J Inherit Metab Dis, 2010;[Epub ahead of print].
-
(2010)
J Inherit Metab Dis
-
-
Walterfang, M.1
Kornberg, A.2
Adams, S.3
-
28
-
-
4744339285
-
Therapy of Niemann-Pick disease, type C
-
Patterson MC, Platt F, Therapy of Niemann-Pick disease, type C, Biochim Biophys Acta, 2004;1685:77-82
-
(2004)
Biochim Biophys Acta
, vol.1685
, pp. 77-82
-
-
Patterson, M.C.1
Platt, F.2
-
29
-
-
1242316279
-
Niemann-Pick Type C disease and Alzheimer's disease: the APP-endosome connection fattens up
-
Nixon RA, Niemann-Pick Type C disease and Alzheimer's disease: the APP-endosome connection fattens up, Am J Pathol, 2004;164:757-61
-
(2004)
Am J Pathol
, vol.164
, pp. 757-761
-
-
Nixon, R.A.1
-
30
-
-
0030800371
-
Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice
-
Goodrum JF, Pentchev PG, Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice, J Neurosci Res, 1997;49:389-92
-
(1997)
J Neurosci Res
, vol.49
, pp. 389-392
-
-
Goodrum, J.F.1
Pentchev, P.G.2
-
31
-
-
0037074932
-
Neurodegeneration in the Niemann-Pick C mouse: glial involvement
-
German DC, Liang CL, Song T, et al., Neurodegeneration in the Niemann-Pick C mouse: glial involvement, Neuroscience, 2002;109:437-50.
-
(2002)
Neuroscience
, vol.109
, pp. 437-450
-
-
German, D.C.1
Liang, C.L.2
Song, T.3
-
32
-
-
0036273260
-
Cholesterol-dependent modulation of dendrite outgrowth and microtubule stability in cultured neurons
-
Fan QW, Yu W, Gong JS, et al., Cholesterol-dependent modulation of dendrite outgrowth and microtubule stability in cultured neurons, J Neurochem, 2002;80:178-90.
-
(2002)
J Neurochem
, vol.80
, pp. 178-190
-
-
Fan, Q.W.1
Yu, W.2
Gong, J.S.3
-
33
-
-
0034626870
-
The dendritic architecture of prefrontal pyramidal neurons in schizophrenic patients
-
Kalus P, Muller TJ, Zuschratter W, et al., The dendritic architecture of prefrontal pyramidal neurons in schizophrenic patients, Neuroreport, 2000;11:3621-5.
-
(2000)
Neuroreport
, vol.11
, pp. 3621-3625
-
-
Kalus, P.1
Muller, T.J.2
Zuschratter, W.3
-
34
-
-
0034115267
-
Structural abnormalities of subicular dendrites in subjects with schizophrenia and mood disorders: preliminary findings
-
Rosoklija G, Toomayan G, Ellis SP, et al., Structural abnormalities of subicular dendrites in subjects with schizophrenia and mood disorders: preliminary findings, Arch Gen Psychiatry, 2000;57:349-56.
-
(2000)
Arch Gen Psychiatry
, vol.57
, pp. 349-356
-
-
Rosoklija, G.1
Toomayan, G.2
Ellis, S.P.3
-
35
-
-
0029942903
-
Origin of cholesterol in myelin
-
Morell P, Jurevics H, Origin of cholesterol in myelin, Neurochem Res, 1996;21:463-70
-
(1996)
Neurochem Res
, vol.21
, pp. 463-470
-
-
Morell, P.1
Jurevics, H.2
-
36
-
-
0035987769
-
Implications of lipid biology for the pathogenesis of schizophrenia
-
Berger GE, Wood SJ, Pantelis C, et al., Implications of lipid biology for the pathogenesis of schizophrenia, Aust N Z J Psychiatry, 2002;36:355-66.
-
(2002)
Aust N Z J Psychiatry
, vol.36
, pp. 355-366
-
-
Berger, G.E.1
Wood, S.J.2
Pantelis, C.3
-
37
-
-
0041328892
-
Oligodendrocyte dysfunction in schizophrenia and bipolar disorder
-
Tkachev D, Mimmack ML, Ryan MM, et al., Oligodendrocyte dysfunction in schizophrenia and bipolar disorder, Lancet, 2003;362:798-805.
-
(2003)
Lancet
, vol.362
, pp. 798-805
-
-
Tkachev, D.1
Mimmack, M.L.2
Ryan, M.M.3
-
38
-
-
0024848897
-
Myelination of cortical-hippocampal relays during late adolescence
-
Benes FM, Myelination of cortical-hippocampal relays during late adolescence, Schizophr Bull, 1989;15:585-93
-
(1989)
Schizophr Bull
, vol.15
, pp. 585-593
-
-
Benes, F.M.1
-
39
-
-
0029198619
-
Schizophrenia: a disconnection syndrome?
-
Friston KJ, Frith CD, Schizophrenia: a disconnection syndrome?, Clin Neurosci, 1995;3:89-97
-
(1995)
Clin Neurosci
, vol.3
, pp. 89-97
-
-
Friston, K.J.1
Frith, C.D.2
-
40
-
-
0030750352
-
Frontal-striatal cognitive deficits in patients with chronic schizophrenia
-
Pantelis C, Barnes TR, Nelson HE, et al., Frontal-striatal cognitive deficits in patients with chronic schizophrenia, Brain, 1997;120(10):1823-43.
-
(1997)
Brain
, vol.120
, Issue.10
, pp. 1823-1843
-
-
Pantelis, C.1
Barnes, T.R.2
Nelson, H.E.3
-
41
-
-
60549091933
-
Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis
-
Pacheco CD, Elrick MJ, Lieberman AP, Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis, Hum Mol Genet, 2009;18:956-65
-
(2009)
Hum Mol Genet
, vol.18
, pp. 956-965
-
-
Pacheco, C.D.1
Elrick, M.J.2
Lieberman, A.P.3
-
42
-
-
0038045571
-
Presenilin redistribution associated with aberrant cholesterol transport enhances beta-amyloid production in vivo
-
Burns M, Gaynor K, Olm V, et al., Presenilin redistribution associated with aberrant cholesterol transport enhances beta-amyloid production in vivo, J Neurosci, 2003;23:5645-9.
-
(2003)
J Neurosci
, vol.23
, pp. 5645-5649
-
-
Burns, M.1
Gaynor, K.2
Olm, V.3
-
43
-
-
0032573572
-
Elevated lowdensity lipoprotein in Alzheimer's disease correlates with brain abeta 1-42 levels
-
Kuo YM, Emmerling MR, Bisgaier CL, et al., Elevated lowdensity lipoprotein in Alzheimer's disease correlates with brain abeta 1-42 levels, Biochem Biophys Res Commun, 1998;252:711-5.
-
(1998)
Biochem Biophys Res Commun
, vol.252
, pp. 711-715
-
-
Kuo, Y.M.1
Emmerling, M.R.2
Bisgaier, C.L.3
-
44
-
-
0036715016
-
Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity
-
Saito Y, Suzuki K, Nanba E, et al., Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity, Ann Neurol, 2002;52:351-5.
-
(2002)
Ann Neurol
, vol.52
, pp. 351-355
-
-
Saito, Y.1
Suzuki, K.2
Nanba, E.3
-
45
-
-
0028785286
-
Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C
-
Shulman LM, David NJ, Weiner WJ, Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C, Neurology, 1995;45:1739-43
-
(1995)
Neurology
, vol.45
, pp. 1739-1743
-
-
Shulman, L.M.1
David, N.J.2
Weiner, W.J.3
-
46
-
-
0025777970
-
Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing
-
Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al., Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing, Biochim Biophys Acta, 1991b;1096:328-37.
-
(1991)
Biochim Biophys Acta
, vol.1096
, pp. 328-337
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
-
47
-
-
0023879638
-
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients
-
Vanier MT, Wenger DA, Comly ME, et al., Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients, Clin Genet, 1988;33:331-48.
-
(1988)
Clin Genet
, vol.33
, pp. 331-348
-
-
Vanier, M.T.1
Wenger, D.A.2
Comly, M.E.3
-
48
-
-
0021212862
-
A progressive neurologic disorder with supranuclear vertical gaze paresis and distinctive bone marrow cells
-
Yan-Go FL, Yanagihara T, Pierre RV, et al., A progressive neurologic disorder with supranuclear vertical gaze paresis and distinctive bone marrow cells, Mayo Clin Proc, 1984;59:404-10.
-
(1984)
Mayo Clin Proc
, vol.59
, pp. 404-410
-
-
Yan-Go, F.L.1
Yanagihara, T.2
Pierre, R.V.3
-
49
-
-
0031890087
-
Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C
-
Campo JV, Stowe R, Slomka G, et al., Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C, Dev Med Child Neurol, 1998;40:126-9.
-
(1998)
Dev Med Child Neurol
, vol.40
, pp. 126-129
-
-
Campo, J.V.1
Stowe, R.2
Slomka, G.3
-
50
-
-
68849083222
-
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male
-
Sandu S, Jackowski-Dohrmann S, Ladner A, et al., Niemann-Pick disease type C1 presenting with psychosis in an adolescent male, Eur Child Adolesc Psychiatry, 2009;18:583-5.
-
(2009)
Eur Child Adolesc Psychiatry
, vol.18
, pp. 583-585
-
-
Sandu, S.1
Jackowski-Dohrmann, S.2
Ladner, A.3
-
51
-
-
0036822859
-
Niemann-Pick disease type C in adults
-
Imrie J, Vijayaraghaven S, Whitehouse C, et al., Niemann-Pick disease type C in adults, J Inherit Metab Dis, 2002;25:491-500.
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 491-500
-
-
Imrie, J.1
Vijayaraghaven, S.2
Whitehouse, C.3
-
52
-
-
28544432842
-
Allopregnanolone treatment, both as a single injection or repetitively, delays demyelination and enhances survival of Niemann-Pick C mice
-
Ahmad I, Lope-Piedrafita S, Bi X, et al., Allopregnanolone treatment, both as a single injection or repetitively, delays demyelination and enhances survival of Niemann-Pick C mice, J Neurosci Res, 2005;82:811-21.
-
(2005)
J Neurosci Res
, vol.82
, pp. 811-821
-
-
Ahmad, I.1
Lope-Piedrafita, S.2
Bi, X.3
-
53
-
-
10444258232
-
Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann-Pick C
-
Bascunan-Castillo EC, Erickson RP, Howison CM, et al., Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann-Pick C, J Appl Genet, 2004;45:461-7.
-
(2004)
J Appl Genet
, vol.45
, pp. 461-467
-
-
Bascunan-Castillo, E.C.1
Erickson, R.P.2
Howison, C.M.3
-
54
-
-
84856278856
-
-
American Society of Human Genetics, Conference, Salt Lake City, Uhah
-
Hinton V, Vecchio D, Prady H, et al., The cognitive phenotype of type C disease: neuropsychological characteristics of patients at baseline in a clinical trial with oral miglustat, American Society of Human Genetics, Conference, Salt Lake City, Uhah: 2005.
-
(2005)
The cognitive phenotype of type C disease: neuropsychological characteristics of patients at baseline in a clinical trial with oral miglustat
-
-
Hinton, V.1
Vecchio, D.2
Prady, H.3
-
55
-
-
33846407579
-
Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations
-
Klarner B, Klunemann HH, Lurding R, et al., Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations, J Inherit Metab Dis, 2007;30:60-7.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 60-67
-
-
Klarner, B.1
Klunemann, H.H.2
Lurding, R.3
-
56
-
-
67849098806
-
Recommendations on the diagnosis and management of Niemann-Pick disease type C
-
Wraith JE, Baumgartner MR, Bembi B, et al., Recommendations on the diagnosis and management of Niemann-Pick disease type C, Mol Genet Metab, 2009;98:152-65.
-
(2009)
Mol Genet Metab
, vol.98
, pp. 152-165
-
-
Wraith, J.E.1
Baumgartner, M.R.2
Bembi, B.3
-
57
-
-
0019945125
-
Cataplexy in variant forms of Niemann-Pick disease
-
Kandt RS, Emerson RG, Singer HS, et al., Cataplexy in variant forms of Niemann-Pick disease, Ann Neurol, 1982;12:284-8.
-
(1982)
Ann Neurol
, vol.12
, pp. 284-288
-
-
Kandt, R.S.1
Emerson, R.G.2
Singer, H.S.3
-
58
-
-
84856247607
-
-
NPC-info.com, Actelion Pharmaceuticals Ltd, Available at. (22 February)
-
NPC-info.com, Actelion Pharmaceuticals Ltd, Available at: www.niemann-pick-c.com/(22 February 2011).
-
(2011)
-
-
-
59
-
-
34447325642
-
Defective cholesterol traffic and neuronal differentiation in neural stem cells of Niemann-Pick type C disease improved by valproic acid, a histone deacetylase inhibitor
-
Kim SJ, Lee BH, Lee YS, et al., Defective cholesterol traffic and neuronal differentiation in neural stem cells of Niemann-Pick type C disease improved by valproic acid, a histone deacetylase inhibitor, Biochem Biophys Res Commun, 2007;360:593-9.
-
(2007)
Biochem Biophys Res Commun
, vol.360
, pp. 593-599
-
-
Kim, S.J.1
Lee, B.H.2
Lee, Y.S.3
-
60
-
-
0034512968
-
Inhibition of glycosphingolipid biosynthesis: application to lysosomal storage disorders
-
Butters TD, Dwek RA, Platt FM, Inhibition of glycosphingolipid biosynthesis: application to lysosomal storage disorders, Chem Rev, 2000;100:4683-96
-
(2000)
Chem Rev
, vol.100
, pp. 4683-4696
-
-
Butters, T.D.1
Dwek, R.A.2
Platt, F.M.3
-
61
-
-
0028176432
-
N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis
-
Platt FM, Neises GR, Dwek RA, et al., N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis, J Biol Chem, 1994a;269:8362-5.
-
(1994)
J Biol Chem
, vol.269
, pp. 8362-8365
-
-
Platt, F.M.1
Neises, G.R.2
Dwek, R.A.3
-
62
-
-
0028171083
-
Nbutyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing
-
Platt FM, Neises GR, Karlsson GB, et al., Nbutyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing, J Biol Chem, 1994b;269:27108-14.
-
(1994)
J Biol Chem
, vol.269
, pp. 27108-27114
-
-
Platt, F.M.1
Neises, G.R.2
Karlsson, G.B.3
-
63
-
-
77649249576
-
Long-term miglustat therapy in children with Niemann-Pick disease type C
-
Patterson MC, Vecchio D, Jacklin E, et al., Long-term miglustat therapy in children with Niemann-Pick disease type C, J Child Neurol, 2010;25:300-5.
-
(2010)
J Child Neurol
, vol.25
, pp. 300-305
-
-
Patterson, M.C.1
Vecchio, D.2
Jacklin, E.3
-
64
-
-
70349748397
-
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study
-
Pineda M, Wraith JE, Mengel E, et al., Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study, Mol Genet Metab, 2009;98:243-9.
-
(2009)
Mol Genet Metab
, vol.98
, pp. 243-249
-
-
Pineda, M.1
Wraith, J.E.2
Mengel, E.3
-
65
-
-
77649338413
-
Miglustat in adult and juvenile patients with Niemann-Pick disease type C: longterm data from a clinical trial
-
Wraith JE, Vecchio D, Jacklin E, et al., Miglustat in adult and juvenile patients with Niemann-Pick disease type C: longterm data from a clinical trial, Mol Genet Metab, 2010;99:351-7.
-
(2010)
Mol Genet Metab
, vol.99
, pp. 351-357
-
-
Wraith, J.E.1
Vecchio, D.2
Jacklin, E.3
-
66
-
-
77649338296
-
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series
-
Pineda M, Perez-Poyato MS, O'Callaghan M, et al., Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series, Mol Genet Metab, 2010;99:358-66.
-
(2010)
Mol Genet Metab
, vol.99
, pp. 358-366
-
-
Pineda, M.1
Perez-Poyato, M.S.2
O'Callaghan, M.3
-
68
-
-
0036705301
-
Gene therapy for the lysosomal storage disorders
-
Cabrera-Salazar MA, Novelli E, Barranger JA, Gene therapy for the lysosomal storage disorders, Curr Opin Mol Ther, 2002;4:349-58
-
(2002)
Curr Opin Mol Ther
, vol.4
, pp. 349-358
-
-
Cabrera-Salazar, M.A.1
Novelli, E.2
Barranger, J.A.3
-
69
-
-
0037418920
-
Neural stem cells: an overview
-
Galli R, Gritti A, Bonfanti L, et al., Neural stem cells: an overview, Circ Res, 2003;92:598-608.
-
(2003)
Circ Res
, vol.92
, pp. 598-608
-
-
Galli, R.1
Gritti, A.2
Bonfanti, L.3
-
70
-
-
0028951119
-
Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain
-
Snyder EY, Taylor RM, Wolfe JH, Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain, Nature, 1995;374:367-70
-
(1995)
Nature
, vol.374
, pp. 367-370
-
-
Snyder, E.Y.1
Taylor, R.M.2
Wolfe, J.H.3
-
71
-
-
84897972180
-
Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect
-
[Epub ahead of print]
-
Bonney DK, O'Meara A, Shabani A, et al., Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect, J Inherit Metab Dis, 2010; [Epub ahead of print].
-
(2010)
J Inherit Metab Dis
-
-
Bonney, D.K.1
O'Meara, A.2
Shabani, A.3
-
72
-
-
70349767908
-
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1
-
Smith D, Wallom KL, Williams IM, et al., Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1, Neurobiol Dis, 2009;36:242-51.
-
(2009)
Neurobiol Dis
, vol.36
, pp. 242-251
-
-
Smith, D.1
Wallom, K.L.2
Williams, I.M.3
-
73
-
-
34250324909
-
Clues to neurodegeneration in Niemann-Pick type C disease from global gene expression profiling
-
Reddy JV, Ganley IG, Pfeffer SR, Clues to neurodegeneration in Niemann-Pick type C disease from global gene expression profiling, PLoS One, 2006;1:e19
-
(2006)
PLoS One
, vol.1
-
-
Reddy, J.V.1
Ganley, I.G.2
Pfeffer, S.R.3
-
74
-
-
84856296319
-
-
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine. (date accessed: 18 March 2011)
-
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine. 2010; http://clinicaltrials.gov/ct2/show/NCT00975689 (date accessed: 18 March 2011).
-
(2010)
-
-
-
75
-
-
54049085754
-
Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease
-
Alvarez AR, Klein A, Castro J, et al., Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease, FASEB J, 2008;22:3617-27.
-
(2008)
FASEB J
, vol.22
, pp. 3617-3627
-
-
Alvarez, A.R.1
Klein, A.2
Castro, J.3
-
76
-
-
3142774112
-
Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone
-
Griffin LD, Gong W, Verot L, et al., Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone, Nat Med, 2004;10:704-11.
-
(2004)
Nat Med
, vol.10
, pp. 704-711
-
-
Griffin, L.D.1
Gong, W.2
Verot, L.3
-
77
-
-
40749148475
-
Endogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C disease
-
Mellon SH, Gong W, Schonemann MD, Endogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C disease, Brain Res Rev, 2008;57:410-20
-
(2008)
Brain Res Rev
, vol.57
, pp. 410-420
-
-
Mellon, S.H.1
Gong, W.2
Schonemann, M.D.3
-
78
-
-
77951073185
-
Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid
-
Liu B, Ramirez CM, Miller AM, et al., Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid, J Lipid Res, 2010;51:933-44.
-
(2010)
J Lipid Res
, vol.51
, pp. 933-944
-
-
Liu, B.1
Ramirez, C.M.2
Miller, A.M.3
-
79
-
-
60549084168
-
Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse
-
Liu B, Turley SD, Burns DK, et al., Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse, Proc Natl Acad Sci USA, 2009;106:2377-82.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 2377-2382
-
-
Liu, B.1
Turley, S.D.2
Burns, D.K.3
-
80
-
-
18744408505
-
Bipolar disorder and Niemann-Pick disease type C
-
Sullivan D, Walterfang M, Velakoulis D, Bipolar disorder and Niemann-Pick disease type C, Am J Psychiatry, 2005;162:1021-2
-
(2005)
Am J Psychiatry
, vol.162
, pp. 1021-1022
-
-
Sullivan, D.1
Walterfang, M.2
Velakoulis, D.3
-
81
-
-
1342347387
-
Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study
-
Battisti C, Tarugi P, Dotti MT, et al., Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study, Mov Disord, 2003;18:1405-9.
-
(2003)
Mov Disord
, vol.18
, pp. 1405-1409
-
-
Battisti, C.1
Tarugi, P.2
Dotti, M.T.3
-
82
-
-
0028929548
-
Neurofibrillary tangles in Niemann-Pick disease type C
-
Love S, Bridges LR, Case CP, Neurofibrillary tangles in Niemann-Pick disease type C, Brain, 1995;118(Pt1):119-29
-
(1995)
Brain
, vol.118
, Issue.PART 1
, pp. 119-129
-
-
Love, S.1
Bridges, L.R.2
Case, C.P.3
-
83
-
-
0026409287
-
Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity
-
Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al., Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity, Dev Neurosci, 1991a;13:307-14.
-
(1991)
Dev Neurosci
, vol.13
, pp. 307-314
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
-
84
-
-
0023190525
-
Relationships between parts A and B of the Trail Making Test
-
Corrigan JD, Hinkeldey NS, Relationships between parts A and B of the Trail Making Test, J Clin Psychol, 1987;43:402-9
-
(1987)
J Clin Psychol
, vol.43
, pp. 402-409
-
-
Corrigan, J.D.1
Hinkeldey, N.S.2
-
85
-
-
33748577659
-
Cognitive testing toward the future: The example of Semantic Verbal Fluency (ANIMALS)
-
Ardila A, Ostrosky-Solis F, Bernal B, Cognitive testing toward the future: The example of Semantic Verbal Fluency (ANIMALS), Int J Psychol, 2006;41:324-32
-
(2006)
Int J Psychol
, vol.41
, pp. 324-332
-
-
Ardila, A.1
Ostrosky-Solis, F.2
Bernal, B.3
-
86
-
-
0032407161
-
The Corsi block-tapping task: methodological and theoretical considerations
-
Berch DB, Krikorian R, Huha EM, The Corsi block-tapping task: methodological and theoretical considerations, Brain Cogn, 1998;38(3):317-38
-
(1998)
Brain Cogn
, vol.38
, Issue.3
, pp. 317-338
-
-
Berch, D.B.1
Krikorian, R.2
Huha, E.M.3
-
87
-
-
0016823810
-
"Mini-mental state". A practical method for grading the cognitive state of patients for the clinician
-
Folstein MF, Folstein SE, McHugh PR, "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician, J Psychiatr Res, 1975;12:189-98.
-
(1975)
J Psychiatr Res
, vol.12
, pp. 189-198
-
-
Folstein, M.F.1
Folstein, S.E.2
McHugh, P.R.3
-
88
-
-
0034050920
-
Clock-drawing: is it the ideal cognitive screening test?
-
Shulman KI, Clock-drawing: is it the ideal cognitive screening test?, Int J Geriatr Psychiatry, 2000;15:548-61
-
(2000)
Int J Geriatr Psychiatry
, vol.15
, pp. 548-561
-
-
Shulman, K.I.1
|