-
1
-
-
34147137755
-
Parkinsonism: a review-of-systems approach to diagnosis
-
Tuite PJ, Krawczewski K. Parkinsonism: a review-of-systems approach to diagnosis. Semin Neurol 2007; 27: 113-122.
-
(2007)
Semin Neurol
, vol.27
, pp. 113-122
-
-
Tuite, P.J.1
Krawczewski, K.2
-
2
-
-
72849111551
-
Assessing disease progression with MRI in atypical parkinsonian disorders
-
Kollensperger M, Wenning GK. Assessing disease progression with MRI in atypical parkinsonian disorders. Mov Disord 2009; 24(Suppl 2): S699-S702.
-
(2009)
Mov Disord
, vol.24
, Issue.SUPPL. 2
-
-
Kollensperger, M.1
Wenning, G.K.2
-
3
-
-
77954250857
-
Significance of MRI in diagnosis and differential diagnosis of Parkinson's disease
-
Mahlknecht P, Hotter A, Hussl A, Esterhammer R, Schocke M, Seppi K. Significance of MRI in diagnosis and differential diagnosis of Parkinson's disease. Neurodegener Dis 2010; 7: 300-318.
-
(2010)
Neurodegener Dis
, vol.7
, pp. 300-318
-
-
Mahlknecht, P.1
Hotter, A.2
Hussl, A.3
Esterhammer, R.4
Schocke, M.5
Seppi, K.6
-
4
-
-
14744285786
-
Vascular parkinsonism-an important cause of parkinsonism in older people
-
Thanvi B, Lo N, Robinson T. Vascular parkinsonism-an important cause of parkinsonism in older people. Age Ageing 2005; 34: 114-119.
-
(2005)
Age Ageing
, vol.34
, pp. 114-119
-
-
Thanvi, B.1
Lo, N.2
Robinson, T.3
-
5
-
-
77955058912
-
A historical analysis of the relationship between encephalitis lethargica and postencephalitic parkinsonism: a complex rather than a direct relationship
-
Vilensky JA, Gilman S, McCall S. A historical analysis of the relationship between encephalitis lethargica and postencephalitic parkinsonism: a complex rather than a direct relationship. Mov Disord 2010; 25: 1116-1123.
-
(2010)
Mov Disord
, vol.25
, pp. 1116-1123
-
-
Vilensky, J.A.1
Gilman, S.2
McCall, S.3
-
7
-
-
33751520926
-
Paraquat exposure as an etiological factor of Parkinson's disease
-
Dinis-Oliveira RJ, Remiao F, Carmo H, et al. Paraquat exposure as an etiological factor of Parkinson's disease. Neurotoxicology 2006; 27: 1110-1122.
-
(2006)
Neurotoxicology
, vol.27
, pp. 1110-1122
-
-
Dinis-Oliveira, R.J.1
Remiao, F.2
Carmo, H.3
-
8
-
-
0021239393
-
Parkinsonism induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP): implications for treatment and the pathogenesis of Parkinson's disease
-
Langston JW, Ballard P. Parkinsonism induced by 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine (MPTP): implications for treatment and the pathogenesis of Parkinson's disease. Can J Neurol Sci 1984; 11: 160-165.
-
(1984)
Can J Neurol Sci
, vol.11
, pp. 160-165
-
-
Langston, J.W.1
Ballard, P.2
-
9
-
-
2342438042
-
Atypical parkinsonism and motor neuron syndrome in a Biosphere 2 participant: a possible complication of chronic hypoxia and carbon monoxide toxicity?
-
Lassinger BK, Kwak C, Walford RL, Jankovic J. Atypical parkinsonism and motor neuron syndrome in a Biosphere 2 participant: a possible complication of chronic hypoxia and carbon monoxide toxicity? Mov Disord 2004; 19: 465-469.
-
(2004)
Mov Disord
, vol.19
, pp. 465-469
-
-
Lassinger, B.K.1
Kwak, C.2
Walford, R.L.3
Jankovic, J.4
-
10
-
-
33947124584
-
Parkinsonism caused by chronic usage of intravenous potassium permanganate
-
Meral H, Kutukcu Y, Atmaca B, Ozer F, Hamamcioglu K. Parkinsonism caused by chronic usage of intravenous potassium permanganate. Neurologist 2007; 13: 92-94.
-
(2007)
Neurologist
, vol.13
, pp. 92-94
-
-
Meral, H.1
Kutukcu, Y.2
Atmaca, B.3
Ozer, F.4
Hamamcioglu, K.5
-
11
-
-
38649104884
-
Neurological complications of psychiatric drugs: clinical features and management
-
Haddad PM, Dursun SM. Neurological complications of psychiatric drugs: clinical features and management. Hum Psychopharmacol 2008; 23(Suppl 1): 15-26.
-
(2008)
Hum Psychopharmacol
, vol.23
, Issue.SUPPL. 1
, pp. 15-26
-
-
Haddad, P.M.1
Dursun, S.M.2
-
12
-
-
45849136270
-
'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature
-
Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE. 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis 2008; 31: 337-349.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 337-349
-
-
Biegstraaten, M.1
van Schaik, I.N.2
Aerts, J.M.3
Hollak, C.E.4
-
13
-
-
69949134511
-
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism
-
DePaolo J, Goker-Alpan O, Samaddar T, Lopez G, Sidransky E. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov Disord 2009; 24: 1571-1578.
-
(2009)
Mov Disord
, vol.24
, pp. 1571-1578
-
-
DePaolo, J.1
Goker-Alpan, O.2
Samaddar, T.3
Lopez, G.4
Sidransky, E.5
-
15
-
-
34648819365
-
The Lewy body in Parkinson's disease: molecules implicated in the formation and degradation of alpha-synuclein aggregates
-
Wakabayashi K, Tanji K, Mori F, Takahashi H. The Lewy body in Parkinson's disease: molecules implicated in the formation and degradation of alpha-synuclein aggregates. Neuropathology 2007; 27: 494-506.
-
(2007)
Neuropathology
, vol.27
, pp. 494-506
-
-
Wakabayashi, K.1
Tanji, K.2
Mori, F.3
Takahashi, H.4
-
16
-
-
42649111286
-
Proteomic identification of novel proteins associated with Lewy bodies
-
Xia Q, Liao L, Cheng D, et al. Proteomic identification of novel proteins associated with Lewy bodies. Front Biosci 2008; 13: 3850-3856.
-
(2008)
Front Biosci
, vol.13
, pp. 3850-3856
-
-
Xia, Q.1
Liao, L.2
Cheng, D.3
-
17
-
-
0030882856
-
Alpha-synuclein in Lewy bodies
-
Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, Jakes R, Goedert M. Alpha-synuclein in Lewy bodies. Nature 1997; 388: 839-840.
-
(1997)
Nature
, vol.388
, pp. 839-840
-
-
Spillantini, M.G.1
Schmidt, M.L.2
Lee, V.M.3
Trojanowski, J.Q.4
Jakes, R.5
Goedert, M.6
-
18
-
-
33749570292
-
Phosphorylation of Ser-129 is the dominant pathological modification of alpha-synuclein in familial and sporadic Lewy body disease
-
Anderson JP, Walker DE, Goldstein JM, et al. Phosphorylation of Ser-129 is the dominant pathological modification of alpha-synuclein in familial and sporadic Lewy body disease. J Biol Chem 2006; 281: 29739-29752.
-
(2006)
J Biol Chem
, vol.281
, pp. 29739-29752
-
-
Anderson, J.P.1
Walker, D.E.2
Goldstein, J.M.3
-
19
-
-
0031941058
-
Aggregation of alpha-synuclein in Lewy bodies of sporadic Parkinson's disease and dementia with Lewy bodies
-
Baba M, Nakajo S, Tu PH, et al. Aggregation of alpha-synuclein in Lewy bodies of sporadic Parkinson's disease and dementia with Lewy bodies. Am J Pathol 1998; 152: 879-884.
-
(1998)
Am J Pathol
, vol.152
, pp. 879-884
-
-
Baba, M.1
Nakajo, S.2
Tu, P.H.3
-
20
-
-
0033678217
-
Widespread nitration of pathological inclusions in neurodegenerative synucleinopathies
-
Duda JE, Giasson BI, Chen Q, et al. Widespread nitration of pathological inclusions in neurodegenerative synucleinopathies. Am J Pathol 2000; 157: 1439-1445.
-
(2000)
Am J Pathol
, vol.157
, pp. 1439-1445
-
-
Duda, J.E.1
Giasson, B.I.2
Chen, Q.3
-
21
-
-
0036174010
-
alpha-Synuclein is phosphorylated in synucleinopathy lesions
-
Fujiwara H, Hasegawa M, Dohmae N, et al. alpha-Synuclein is phosphorylated in synucleinopathy lesions. Nat Cell Biol 2002; 4: 160-164.
-
(2002)
Nat Cell Biol
, vol.4
, pp. 160-164
-
-
Fujiwara, H.1
Hasegawa, M.2
Dohmae, N.3
-
22
-
-
0034602442
-
Oxidative damage linked to neurodegeneration by selective alpha-synuclein nitration in synucleinopathy lesions
-
Giasson BI, Duda JE, Murray IV, et al. Oxidative damage linked to neurodegeneration by selective alpha-synuclein nitration in synucleinopathy lesions. Science 2000; 290: 985-989.
-
(2000)
Science
, vol.290
, pp. 985-989
-
-
Giasson, B.I.1
Duda, J.E.2
Murray, I.V.3
-
23
-
-
0032888789
-
Alpha-synuclein in Lewy body disease and Alzheimer's disease
-
Hashimoto M, Masliah E. Alpha-synuclein in Lewy body disease and Alzheimer's disease. Brain Pathol 1999; 9: 707-720.
-
(1999)
Brain Pathol
, vol.9
, pp. 707-720
-
-
Hashimoto, M.1
Masliah, E.2
-
24
-
-
0031566042
-
NACP, a presynaptic protein, immunoreactivity in Lewy bodies in Parkinson's disease
-
Wakabayashi K, Matsumoto K, Takayama K, Yoshimoto M, Takahashi H. NACP, a presynaptic protein, immunoreactivity in Lewy bodies in Parkinson's disease. Neurosci Lett 1997; 239: 45-48.
-
(1997)
Neurosci Lett
, vol.239
, pp. 45-48
-
-
Wakabayashi, K.1
Matsumoto, K.2
Takayama, K.3
Yoshimoto, M.4
Takahashi, H.5
-
25
-
-
0017763113
-
Neurology-epitomes of progress: carbidopa-levodopa combination in treatment of Parkinson disease
-
Bounds JA, Hunt GM. Neurology-epitomes of progress: carbidopa-levodopa combination in treatment of Parkinson disease. West J Med 1977; 127: 135-136.
-
(1977)
West J Med
, vol.127
, pp. 135-136
-
-
Bounds, J.A.1
Hunt, G.M.2
-
26
-
-
42549125512
-
Review: Familial Parkinson's disease-genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease
-
Schiesling C, Kieper N, Seidel K, Kruger R. Review: Familial Parkinson's disease-genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease. Neuropathol Appl Neurobiol 2008; 34: 255-271.
-
(2008)
Neuropathol Appl Neurobiol
, vol.34
, pp. 255-271
-
-
Schiesling, C.1
Kieper, N.2
Seidel, K.3
Kruger, R.4
-
27
-
-
33645116252
-
Genetics of Parkinson disease: paradigm shifts and future prospects
-
Farrer MJ. Genetics of Parkinson disease: paradigm shifts and future prospects. Nat Rev Genet 2006; 7: 306-318.
-
(2006)
Nat Rev Genet
, vol.7
, pp. 306-318
-
-
Farrer, M.J.1
-
28
-
-
51649116692
-
Update on the pathogenesis of Parkinson's disease
-
Schulz JB. Update on the pathogenesis of Parkinson's disease. J Neurol 2008; 255(Suppl 5): 3-7.
-
(2008)
J Neurol
, vol.255
, Issue.SUPPL. 5
, pp. 3-7
-
-
Schulz, J.B.1
-
29
-
-
68649097307
-
The genetics of Parkinson's syndromes: a critical review
-
Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C. The genetics of Parkinson's syndromes: a critical review. Curr Opin Genet Dev 2009; 19: 254-265.
-
(2009)
Curr Opin Genet Dev
, vol.19
, pp. 254-265
-
-
Hardy, J.1
Lewis, P.2
Revesz, T.3
Lees, A.4
Paisan-Ruiz, C.5
-
30
-
-
77953229747
-
Missing pieces in the Parkinson's disease puzzle
-
Obeso JA, Rodriguez-Oroz MC, Goetz CG, et al. Missing pieces in the Parkinson's disease puzzle. Nat Med 2010; 16: 653-661.
-
(2010)
Nat Med
, vol.16
, pp. 653-661
-
-
Obeso, J.A.1
Rodriguez-Oroz, M.C.2
Goetz, C.G.3
-
31
-
-
2942687937
-
The cell biology of lysosomal storage disorders
-
Futerman AH, van Meer G. The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol 2004; 5: 554-565.
-
(2004)
Nat Rev Mol Cell Biol
, vol.5
, pp. 554-565
-
-
Futerman, A.H.1
van Meer, G.2
-
32
-
-
77954225471
-
Common and uncommon pathogenic cascades in lysosomal storage diseases
-
Vitner EB, Platt FM, Futerman AH. Common and uncommon pathogenic cascades in lysosomal storage diseases. J Biol Chem 2010; 285: 20423-20427.
-
(2010)
J Biol Chem
, vol.285
, pp. 20423-20427
-
-
Vitner, E.B.1
Platt, F.M.2
Futerman, A.H.3
-
33
-
-
77954933661
-
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders
-
Velayati A, Yu WH, Sidransky E. The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr Neurol Neurosci Rep 2010; 10: 190-198.
-
(2010)
Curr Neurol Neurosci Rep
, vol.10
, pp. 190-198
-
-
Velayati, A.1
Yu, W.H.2
Sidransky, E.3
-
34
-
-
77950672979
-
Lysosomal function in macromolecular homeostasis and bioenergetics in Parkinson's disease
-
Schneider L, Zhang J. Lysosomal function in macromolecular homeostasis and bioenergetics in Parkinson's disease. Mol Neurodegener 2010; 5: 14.
-
(2010)
Mol Neurodegener
, vol.5
, pp. 14
-
-
Schneider, L.1
Zhang, J.2
-
35
-
-
77953499076
-
Multi-system disorders of glycosphingolipid and ganglioside metabolism
-
Xu YH, Barnes S, Sun Y, Grabowski GA. Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res 2010; 51: 1643-1675.
-
(2010)
J Lipid Res
, vol.51
, pp. 1643-1675
-
-
Xu, Y.H.1
Barnes, S.2
Sun, Y.3
Grabowski, G.A.4
-
36
-
-
0029773625
-
Occurrence of Parkinson's syndrome in type I Gaucher disease
-
Neudorfer O, Giladi N, Elstein D, et al. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM 1996; 89: 691-694.
-
(1996)
QJM
, vol.89
, pp. 691-694
-
-
Neudorfer, O.1
Giladi, N.2
Elstein, D.3
-
37
-
-
10844278246
-
Parkinsonism among Gaucher disease carriers
-
Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet 2004; 41: 937-940.
-
(2004)
J Med Genet
, vol.41
, pp. 937-940
-
-
Goker-Alpan, O.1
Schiffmann, R.2
LaMarca, M.E.3
Nussbaum, R.L.4
McInerney-Leo, A.5
Sidransky, E.6
-
38
-
-
12444296116
-
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
-
Tayebi N, Walker J, Stubblefield B, et al. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 2003; 79: 104-109.
-
(2003)
Mol Genet Metab
, vol.79
, pp. 104-109
-
-
Tayebi, N.1
Walker, J.2
Stubblefield, B.3
-
39
-
-
33646837867
-
Increased incidence of Parkinson disease among relatives of patients with Gaucher disease
-
Halperin A, Elstein D, Zimran A. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis 2006; 36: 426-428.
-
(2006)
Blood Cells Mol Dis
, vol.36
, pp. 426-428
-
-
Halperin, A.1
Elstein, D.2
Zimran, A.3
-
40
-
-
77958050398
-
Autosomal recessive mutations in the development of Parkinson's disease
-
Lopez G, Sidransky E. Autosomal recessive mutations in the development of Parkinson's disease. Biomark Med 2010; 4: 713-721.
-
(2010)
Biomark Med
, vol.4
, pp. 713-721
-
-
Lopez, G.1
Sidransky, E.2
-
41
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 2009; 361: 1651-1661.
-
(2009)
N Engl J Med
, vol.361
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
-
42
-
-
60249097449
-
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece
-
Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, Katsarou Z, Hardy J, Fidani L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci Lett 2009; 452: 87-89.
-
(2009)
Neurosci Lett
, vol.452
, pp. 87-89
-
-
Kalinderi, K.1
Bostantjopoulou, S.2
Paisan-Ruiz, C.3
Katsarou, Z.4
Hardy, J.5
Fidani, L.6
-
43
-
-
34248594808
-
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease
-
Ziegler SG, Eblan MJ, Gutti U, et al. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab 2007; 91: 195-200.
-
(2007)
Mol Genet Metab
, vol.91
, pp. 195-200
-
-
Ziegler, S.G.1
Eblan, M.J.2
Gutti, U.3
-
44
-
-
33644935848
-
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela
-
Eblan MJ, Nguyen J, Ziegler SG, et al. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov Disord 2006; 21: 282-283.
-
(2006)
Mov Disord
, vol.21
, pp. 282-283
-
-
Eblan, M.J.1
Nguyen, J.2
Ziegler, S.G.3
-
45
-
-
72749098988
-
Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China
-
Mao XY, Burgunder JM, Zhang ZJ, et al. Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China. Neurosci Lett 2010; 469: 256-259.
-
(2010)
Neurosci Lett
, vol.469
, pp. 256-259
-
-
Mao, X.Y.1
Burgunder, J.M.2
Zhang, Z.J.3
-
46
-
-
46049103214
-
Gaucher and Parkinson diseases: unexpectedly related
-
Rogaeva E, Hardy J. Gaucher and Parkinson diseases: unexpectedly related. Neurology 2008; 70: 2272-2273.
-
(2008)
Neurology
, vol.70
, pp. 2272-2273
-
-
Rogaeva, E.1
Hardy, J.2
-
47
-
-
46049112735
-
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset
-
Gan-Or Z, Giladi N, Rozovski U, et al. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology 2008; 70: 2277-2283.
-
(2008)
Neurology
, vol.70
, pp. 2277-2283
-
-
Gan-Or, Z.1
Giladi, N.2
Rozovski, U.3
-
48
-
-
79956324138
-
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
-
Lesage S, Anheim M, Condroyer C, et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet 2010; 20: 202-210.
-
(2010)
Hum Mol Genet
, vol.20
, pp. 202-210
-
-
Lesage, S.1
Anheim, M.2
Condroyer, C.3
-
50
-
-
54049097933
-
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations
-
Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E. The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol 2008; 65: 1353-1357.
-
(2008)
Arch Neurol
, vol.65
, pp. 1353-1357
-
-
Goker-Alpan, O.1
Lopez, G.2
Vithayathil, J.3
Davis, J.4
Hallett, M.5
Sidransky, E.6
-
51
-
-
38849110222
-
Neurological evaluation of patients with Gaucher disease diagnosed as type 1
-
Capablo JL, Saenz de Cabezon A, Fraile J, Alfonso P, Pocovi M, Giraldo P. Neurological evaluation of patients with Gaucher disease diagnosed as type 1. J Neurol Neurosurg Psychiatry 2008; 79: 219-222.
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, pp. 219-222
-
-
Capablo, J.L.1
Saenz de Cabezon, A.2
Fraile, J.3
Alfonso, P.4
Pocovi, M.5
Giraldo, P.6
-
52
-
-
77954969061
-
Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review
-
Alonso-Canovas A, Katschnig P, Tucci A, et al. Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review. Mov Disord 2010; 25: 1506-1509.
-
(2010)
Mov Disord
, vol.25
, pp. 1506-1509
-
-
Alonso-Canovas, A.1
Katschnig, P.2
Tucci, A.3
-
53
-
-
3242703423
-
Neuropathology provides clues to the pathophysiology of Gaucher disease
-
Wong K, Sidransky E, Verma A, et al. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab 2004; 82: 192-207.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 192-207
-
-
Wong, K.1
Sidransky, E.2
Verma, A.3
-
54
-
-
71049138581
-
Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism
-
Manning-Bog AB, Schule B, Langston JW. Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. Neurotoxicology 2009; 30: 1127-1132.
-
(2009)
Neurotoxicology
, vol.30
, pp. 1127-1132
-
-
Manning-Bog, A.B.1
Schule, B.2
Langston, J.W.3
-
55
-
-
34548039499
-
Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease
-
Balducci C, Pierguidi L, Persichetti E, et al. Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease. Mov Disord 2007; 22: 1481-1484.
-
(2007)
Mov Disord
, vol.22
, pp. 1481-1484
-
-
Balducci, C.1
Pierguidi, L.2
Persichetti, E.3
-
56
-
-
77954972471
-
Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization
-
Saunders-Pullman R, Hagenah J, Dhawan V, et al. Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization. Mov Disord 2010; 25: 1364-1372.
-
(2010)
Mov Disord
, vol.25
, pp. 1364-1372
-
-
Saunders-Pullman, R.1
Hagenah, J.2
Dhawan, V.3
-
57
-
-
77956812150
-
Functional brain imaging in glucocerebrosidase mutation carriers with and without Parkinsonism
-
Kono S, Ouchi Y, Terada T, Ida H, Suzuki M, Miyajima H. Functional brain imaging in glucocerebrosidase mutation carriers with and without Parkinsonism. Mov Disord 2010; 25: 1823-1829.
-
(2010)
Mov Disord
, vol.25
, pp. 1823-1829
-
-
Kono, S.1
Ouchi, Y.2
Terada, T.3
Ida, H.4
Suzuki, M.5
Miyajima, H.6
-
58
-
-
0032190090
-
The ubiquitin pathway in Parkinson's disease
-
Leroy E, Boyer R, Auburger G, et al. The ubiquitin pathway in Parkinson's disease. Nature 1998; 395: 451-452.
-
(1998)
Nature
, vol.395
, pp. 451-452
-
-
Leroy, E.1
Boyer, R.2
Auburger, G.3
-
59
-
-
68649110032
-
Mendelian forms of Parkinson's disease
-
Gasser T. Mendelian forms of Parkinson's disease. Biochim Biophys Acta 2009; 1792: 587-596.
-
(2009)
Biochim Biophys Acta
, vol.1792
, pp. 587-596
-
-
Gasser, T.1
-
60
-
-
12144289221
-
UCHL1 is a Parkinson's disease susceptibility gene
-
Maraganore DM, Lesnick TG, Elbaz A, et al. UCHL1 is a Parkinson's disease susceptibility gene. Ann Neurol 2004; 55: 512-521.
-
(2004)
Ann Neurol
, vol.55
, pp. 512-521
-
-
Maraganore, D.M.1
Lesnick, T.G.2
Elbaz, A.3
-
61
-
-
0037131567
-
The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility
-
Liu Y, Fallon L, Lashuel HA, Liu Z, Lansbury PTJr., The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. Cell 2002; 111: 209-218.
-
(2002)
Cell
, vol.111
, pp. 209-218
-
-
Liu, Y.1
Fallon, L.2
Lashuel, H.A.3
Liu, Z.4
Lansbury Jr, P.T.5
-
62
-
-
33847076127
-
Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway
-
Bifsha P, Landry K, Ashmarina L, et al. Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway. Cell Death Differ 2007; 14: 511-523.
-
(2007)
Cell Death Differ
, vol.14
, pp. 511-523
-
-
Bifsha, P.1
Landry, K.2
Ashmarina, L.3
-
63
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998; 392: 605-608.
-
(1998)
Nature
, vol.392
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
-
64
-
-
77956537090
-
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease
-
Ron I, Rapaport D, Horowitz M. Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease. Hum Mol Genet 2010; 19: 3771-3781.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3771-3781
-
-
Ron, I.1
Rapaport, D.2
Horowitz, M.3
-
65
-
-
27844573882
-
Dystonia and parkinsonism in GM1 type 3 gangliosidosis
-
Roze E, Paschke E, Lopez N, et al. Dystonia and parkinsonism in GM1 type 3 gangliosidosis. Mov Disord 2005; 20: 1366-1369.
-
(2005)
Mov Disord
, vol.20
, pp. 1366-1369
-
-
Roze, E.1
Paschke, E.2
Lopez, N.3
-
66
-
-
8844247891
-
Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases
-
Muthane U, Chickabasaviah Y, Kaneski C, et al. Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases. Mov Disord 2004; 19: 1334-1341.
-
(2004)
Mov Disord
, vol.19
, pp. 1334-1341
-
-
Muthane, U.1
Chickabasaviah, Y.2
Kaneski, C.3
-
67
-
-
0026547660
-
GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients
-
Yoshida K, Oshima A, Sakuraba H, et al. GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients. Ann Neurol 1992; 31: 328-332.
-
(1992)
Ann Neurol
, vol.31
, pp. 328-332
-
-
Yoshida, K.1
Oshima, A.2
Sakuraba, H.3
-
68
-
-
77949873306
-
GM1 ganglioside in Parkinson's disease: Results of a five year open study
-
Schneider JS, Sendek S, Daskalakis C, Cambi F. GM1 ganglioside in Parkinson's disease: Results of a five year open study. J Neurol Sci 2010; 292: 45-51.
-
(2010)
J Neurol Sci
, vol.292
, pp. 45-51
-
-
Schneider, J.S.1
Sendek, S.2
Daskalakis, C.3
Cambi, F.4
-
69
-
-
0028336645
-
Parkinsonism in adult-onset GM2 gangliosidosis
-
Inzelberg R, Korczyn AD. Parkinsonism in adult-onset GM2 gangliosidosis. Mov Disord 1994; 9: 375-377.
-
(1994)
Mov Disord
, vol.9
, pp. 375-377
-
-
Inzelberg, R.1
Korczyn, A.D.2
-
70
-
-
0021270792
-
Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency
-
Argov Z, Navon R. Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency. Ann Neurol 1984; 16: 14-20.
-
(1984)
Ann Neurol
, vol.16
, pp. 14-20
-
-
Argov, Z.1
Navon, R.2
-
71
-
-
0020331661
-
Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype
-
Jellinger K, Anzil AP, Seemann D, Bernheimer H. Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. Clin Neuropathol 1982; 1: 31-44.
-
(1982)
Clin Neuropathol
, vol.1
, pp. 31-44
-
-
Jellinger, K.1
Anzil, A.P.2
Seemann, D.3
Bernheimer, H.4
-
72
-
-
0038298898
-
Neuronal accumulation of alpha- and beta-synucleins in the brain of a GM2 gangliosidosis mouse model
-
Suzuki K, Iseki E, Katsuse O, et al. Neuronal accumulation of alpha- and beta-synucleins in the brain of a GM2 gangliosidosis mouse model. Neuroreport 2003; 14: 551-554.
-
(2003)
Neuroreport
, vol.14
, pp. 551-554
-
-
Suzuki, K.1
Iseki, E.2
Katsuse, O.3
-
73
-
-
34948881759
-
Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses
-
Suzuki K, Iseki E, Togo T, et al. Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses. Acta Neuropathol 2007; 114: 481-489.
-
(2007)
Acta Neuropathol
, vol.114
, pp. 481-489
-
-
Suzuki, K.1
Iseki, E.2
Togo, T.3
-
74
-
-
41949126259
-
Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue
-
Hamano K, Hayashi M, Shioda K, Fukatsu R, Mizutani S. Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue. Acta Neuropathol 2008; 115: 547-559.
-
(2008)
Acta Neuropathol
, vol.115
, pp. 547-559
-
-
Hamano, K.1
Hayashi, M.2
Shioda, K.3
Fukatsu, R.4
Mizutani, S.5
-
75
-
-
37549066697
-
A block of autophagy in lysosomal storage disorders
-
Settembre C, Fraldi A, Jahreiss L, et al. A block of autophagy in lysosomal storage disorders. Hum Mol Genet 2008; 17: 119-129.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 119-129
-
-
Settembre, C.1
Fraldi, A.2
Jahreiss, L.3
-
76
-
-
1842615071
-
Aberrant phosphorylation of alpha-synuclein in human Niemann-Pick type C1 disease
-
Saito Y, Suzuki K, Hulette CM, Murayama S. Aberrant phosphorylation of alpha-synuclein in human Niemann-Pick type C1 disease. J Neuropathol Exp Neurol 2004; 63: 323-328.
-
(2004)
J Neuropathol Exp Neurol
, vol.63
, pp. 323-328
-
-
Saito, Y.1
Suzuki, K.2
Hulette, C.M.3
Murayama, S.4
-
77
-
-
10444286965
-
Heterozygous Niemann-Pick disease type C presenting with tremor
-
Josephs KA, Matsumoto JY, Lindor NM. Heterozygous Niemann-Pick disease type C presenting with tremor. Neurology 2004; 63: 2189-2190.
-
(2004)
Neurology
, vol.63
, pp. 2189-2190
-
-
Josephs, K.A.1
Matsumoto, J.Y.2
Lindor, N.M.3
-
78
-
-
0024200250
-
The diverse neurological features of Niemann-Pick disease type C: a report of two cases
-
Coleman RJ, Robb SA, Lake BD, Brett EM, Harding AE. The diverse neurological features of Niemann-Pick disease type C: a report of two cases. Mov Disord 1988; 3: 295-299.
-
(1988)
Mov Disord
, vol.3
, pp. 295-299
-
-
Coleman, R.J.1
Robb, S.A.2
Lake, B.D.3
Brett, E.M.4
Harding, A.E.5
-
80
-
-
0034903333
-
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease
-
van Diggelen OP, Thobois S, Tilikete C, et al. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. Ann Neurol 2001; 50: 269-272.
-
(2001)
Ann Neurol
, vol.50
, pp. 269-272
-
-
van Diggelen, O.P.1
Thobois, S.2
Tilikete, C.3
-
81
-
-
0036046655
-
The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis
-
Lavrov AY, Ilyna ES, Zakharova EY, Boukina AM, Tishkanina SV. The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol 2002; 6: 161-164.
-
(2002)
Eur J Paediatr Neurol
, vol.6
, pp. 161-164
-
-
Lavrov, A.Y.1
Ilyna, E.S.2
Zakharova, E.Y.3
Boukina, A.M.4
Tishkanina, S.V.5
-
82
-
-
0034646268
-
Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms
-
Aberg L, Liewendahl K, Nikkinen P, Autti T, Rinne JO, Santavuori P. Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms. Neurology 2000; 54: 1069-1074.
-
(2000)
Neurology
, vol.54
, pp. 1069-1074
-
-
Aberg, L.1
Liewendahl, K.2
Nikkinen, P.3
Autti, T.4
Rinne, J.O.5
Santavuori, P.6
-
83
-
-
0035826756
-
A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis
-
Aberg LE, Rinne JO, Rajantie I, Santavuori P. A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis. Neurology 2001; 56: 1236-1239.
-
(2001)
Neurology
, vol.56
, pp. 1236-1239
-
-
Aberg, L.E.1
Rinne, J.O.2
Rajantie, I.3
Santavuori, P.4
-
84
-
-
0030610478
-
[18F]fluorodopa PET shows striatal dopaminergic dysfunction in juvenile neuronal ceroid lipofuscinosis
-
Ruottinen HM, Rinne JO, Haaparanta M, et al. [18F]fluorodopa PET shows striatal dopaminergic dysfunction in juvenile neuronal ceroid lipofuscinosis. J Neurol Neurosurg Psychiatry 1997; 62: 622-625.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.62
, pp. 622-625
-
-
Ruottinen, H.M.1
Rinne, J.O.2
Haaparanta, M.3
-
85
-
-
0037963038
-
Malignant syndrome in Parkinson's disease: concept and review of the literature
-
Mizuno Y, Takubo H, Mizuta E, Kuno S. Malignant syndrome in Parkinson's disease: concept and review of the literature. Parkinsonism Relat Disord 2003; 9(Suppl 1): S3-S9.
-
(2003)
Parkinsonism Relat Disord
, vol.9
, Issue.SUPPL. 1
-
-
Mizuno, Y.1
Takubo, H.2
Mizuta, E.3
Kuno, S.4
-
86
-
-
0038644457
-
Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama
-
Burneo JG, Arnold T, Palmer CA, Kuzniecky RI, Oh SJ, Faught E. Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama. Epilepsia 2003; 44: 841-846.
-
(2003)
Epilepsia
, vol.44
, pp. 841-846
-
-
Burneo, J.G.1
Arnold, T.2
Palmer, C.A.3
Kuzniecky, R.I.4
Oh, S.J.5
Faught, E.6
-
87
-
-
0036589886
-
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction
-
Nijssen PC, Brusse E, Leyten AC, Martin JJ, Teepen JL, Roos RA. Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. Mov Disord 2002; 17: 482-487.
-
(2002)
Mov Disord
, vol.17
, pp. 482-487
-
-
Nijssen, P.C.1
Brusse, E.2
Leyten, A.C.3
Martin, J.J.4
Teepen, J.L.5
Roos, R.A.6
-
88
-
-
79955694568
-
Lysosomal enzyme cathepsin D protects against alpha-synuclein aggregation and toxicity
-
Qiao L, Hamamichi S, Caldwell KA, et al. Lysosomal enzyme cathepsin D protects against alpha-synuclein aggregation and toxicity. Mol Brain 2008; 1: 17.
-
(2008)
Mol Brain
, vol.1
, pp. 17
-
-
Qiao, L.1
Hamamichi, S.2
Caldwell, K.A.3
-
89
-
-
64949185378
-
Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo
-
Cullen V, Lindfors M, Ng J, et al. Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo. Mol Brain 2009; 2: 5.
-
(2009)
Mol Brain
, vol.2
, pp. 5
-
-
Cullen, V.1
Lindfors, M.2
Ng, J.3
-
90
-
-
0028269041
-
Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor
-
Martinelli P, Ippoliti M, Montanari M, et al. Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor. Acta Neurol Scand 1994; 89: 171-174.
-
(1994)
Acta Neurol Scand
, vol.89
, pp. 171-174
-
-
Martinelli, P.1
Ippoliti, M.2
Montanari, M.3
-
91
-
-
0037089940
-
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures
-
Volders P, Van Hove J, Lories RJ, et al. Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures. Am J Med Genet 2002; 109: 42-51.
-
(2002)
Am J Med Genet
, vol.109
, pp. 42-51
-
-
Volders, P.1
Van Hove, J.2
Lories, R.J.3
-
92
-
-
79961209945
-
Nervous system manifestations of Fabry disease: data from FOS-the Fabry Outcome Survey
-
In: Mehta A, Beck M, Sunder-Plassmann G, eds. Oxford, UK: PharmaGenesis.
-
Ginsberg L. Nervous system manifestations of Fabry disease: data from FOS-the Fabry Outcome Survey. In: Mehta A, Beck M, Sunder-Plassmann G, eds. Fabry Disease: Perspectives from 5 Years of FOS. Oxford, UK: PharmaGenesis; 2006.
-
(2006)
Fabry Disease: Perspectives from 5 Years of FOS
-
-
Ginsberg, L.1
-
93
-
-
0036619451
-
Anderson-Fabry disease with cerebrovascular complications in two Italian families
-
Borsini W, Giuliacci G, Torricelli F, Pelo E, Martinelli F, Scordo MR. Anderson-Fabry disease with cerebrovascular complications in two Italian families. Neurol Sci 2002; 23: 49-53.
-
(2002)
Neurol Sci
, vol.23
, pp. 49-53
-
-
Borsini, W.1
Giuliacci, G.2
Torricelli, F.3
Pelo, E.4
Martinelli, F.5
Scordo, M.R.6
-
95
-
-
0028603276
-
[An autopsied case of Fabry's disease presenting with parkinsonism and cardiomegaly as a cardinal clinical manifestation]
-
Orimo S, Iwasaki T, Yoshino H, Arai M, Hiyamuta E. [An autopsied case of Fabry's disease presenting with parkinsonism and cardiomegaly as a cardinal clinical manifestation]. Rinsho Shinkeigaku 1994; 34: 1003-1007.
-
(1994)
Rinsho Shinkeigaku
, vol.34
, pp. 1003-1007
-
-
Orimo, S.1
Iwasaki, T.2
Yoshino, H.3
Arai, M.4
Hiyamuta, E.5
-
96
-
-
0026751048
-
Fabry disease: immunocytochemical characterization of neuronal involvement
-
deVeber GA, Schwarting GA, Kolodny EH, Kowall NW. Fabry disease: immunocytochemical characterization of neuronal involvement. Ann Neurol 1992; 31: 409-415.
-
(1992)
Ann Neurol
, vol.31
, pp. 409-415
-
-
deVeber, G.A.1
Schwarting, G.A.2
Kolodny, E.H.3
Kowall, N.W.4
-
97
-
-
13844309674
-
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients
-
Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med 2005; 7: 119-123.
-
(2005)
Genet Med
, vol.7
, pp. 119-123
-
-
Neudorfer, O.1
Pastores, G.M.2
Zeng, B.J.3
Gianutsos, J.4
Zaroff, C.M.5
Kolodny, E.H.6
-
99
-
-
0015745743
-
Brain dopamine and the syndromes of Parkinson and Huntington. Clinical, morphological and neurochemical correlations
-
Bernheimer H, Birkmayer W, Hornykiewicz O, Jellinger K, Seitelberger F. Brain dopamine and the syndromes of Parkinson and Huntington. Clinical, morphological and neurochemical correlations. J Neurol Sci 1973; 20: 415-455.
-
(1973)
J Neurol Sci
, vol.20
, pp. 415-455
-
-
Bernheimer, H.1
Birkmayer, W.2
Hornykiewicz, O.3
Jellinger, K.4
Seitelberger, F.5
-
100
-
-
45849152046
-
Movement disorders and inborn errors of metabolism in adults: a diagnostic approach
-
Sedel F, Saudubray JM, Roze E, Agid Y, Vidailhet M. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis 2008; 31: 308-318.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 308-318
-
-
Sedel, F.1
Saudubray, J.M.2
Roze, E.3
Agid, Y.4
Vidailhet, M.5
-
101
-
-
77950207658
-
Cellular pathogenesis in sphingolipid storage disorders: the quest for new therapeutic approaches
-
Farfel-Becker T, Futerman AH. Cellular pathogenesis in sphingolipid storage disorders: the quest for new therapeutic approaches. Clin Lipidol 2010; 5: 255-265.
-
(2010)
Clin Lipidol
, vol.5
, pp. 255-265
-
-
Farfel-Becker, T.1
Futerman, A.H.2
-
103
-
-
0036830228
-
The neuropathogenic contributions of lysosomal dysfunction
-
Bahr BA, Bendiske J. The neuropathogenic contributions of lysosomal dysfunction. J Neurochem 2002; 83: 481-489.
-
(2002)
J Neurochem
, vol.83
, pp. 481-489
-
-
Bahr, B.A.1
Bendiske, J.2
-
104
-
-
77956855813
-
Pathogenic lysosomal depletion in Parkinson's disease
-
Dehay B, Bove J, Rodriguez-Muela N, et al. Pathogenic lysosomal depletion in Parkinson's disease. J Neurosci 2010; 30: 12535-12544.
-
(2010)
J Neurosci
, vol.30
, pp. 12535-12544
-
-
Dehay, B.1
Bove, J.2
Rodriguez-Muela, N.3
-
105
-
-
77956131970
-
Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses
-
Vitner EB, Dekel H, Zigdon H, et al. Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses. Hum Mol Genet 2010; 19: 3583-3590.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3583-3590
-
-
Vitner, E.B.1
Dekel, H.2
Zigdon, H.3
-
106
-
-
61349147706
-
Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity
-
Gitler AD, Chesi A, Geddie ML, et al. Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity. Nat Genet 2009; 41: 308-315.
-
(2009)
Nat Genet
, vol.41
, pp. 308-315
-
-
Gitler, A.D.1
Chesi, A.2
Geddie, M.L.3
-
107
-
-
0041589248
-
Alpha-synuclein is degraded by both autophagy and the proteasome
-
Webb JL, Ravikumar B, Atkins J, Skepper JN, Rubinsztein DC. Alpha-synuclein is degraded by both autophagy and the proteasome. J Biol Chem 2003; 278: 25009-25013.
-
(2003)
J Biol Chem
, vol.278
, pp. 25009-25013
-
-
Webb, J.L.1
Ravikumar, B.2
Atkins, J.3
Skepper, J.N.4
Rubinsztein, D.C.5
-
108
-
-
77649211816
-
Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders
-
Ballabio A. Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders. Int J Clin Pharmacol Ther 2009; 47(Suppl 1): S34-S38.
-
(2009)
Int J Clin Pharmacol Ther
, vol.47
, Issue.SUPPL. 1
-
-
Ballabio, A.1
-
109
-
-
41549114279
-
The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease
-
Pan T, Kondo S, Le W, Jankovic J. The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease. Brain 2008; 131: 1969-1978.
-
(2008)
Brain
, vol.131
, pp. 1969-1978
-
-
Pan, T.1
Kondo, S.2
Le, W.3
Jankovic, J.4
-
110
-
-
33847048316
-
Regulation of autophagy by extracellular signal-regulated protein kinases during 1-methyl-4-phenylpyridinium-induced cell death
-
Zhu JH, Horbinski C, Guo F, Watkins S, Uchiyama Y, Chu CT. Regulation of autophagy by extracellular signal-regulated protein kinases during 1-methyl-4-phenylpyridinium-induced cell death. Am J Pathol 2007; 170: 75-86.
-
(2007)
Am J Pathol
, vol.170
, pp. 75-86
-
-
Zhu, J.H.1
Horbinski, C.2
Guo, F.3
Watkins, S.4
Uchiyama, Y.5
Chu, C.T.6
-
111
-
-
0031036896
-
Apoptosis and autophagy in nigral neurons of patients with Parkinson's disease
-
Anglade P, Vyas S, Javoy-Agid F, et al. Apoptosis and autophagy in nigral neurons of patients with Parkinson's disease. Histol Histopathol 1997; 12: 25-31.
-
(1997)
Histol Histopathol
, vol.12
, pp. 25-31
-
-
Anglade, P.1
Vyas, S.2
Javoy-Agid, F.3
-
113
-
-
78149282263
-
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders
-
Fraldi A, Annunziata F, Lombardi A, et al. Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. EMBO J 2010; 29: 3607-3620.
-
(2010)
EMBO J
, vol.29
, pp. 3607-3620
-
-
Fraldi, A.1
Annunziata, F.2
Lombardi, A.3
-
114
-
-
77954379317
-
SNARE protein redistribution and synaptic failure in a transgenic mouse model of Parkinson's disease
-
Garcia-Reitbock P, Anichtchik O, Bellucci A, et al. SNARE protein redistribution and synaptic failure in a transgenic mouse model of Parkinson's disease. Brain 2010; 133: 2032-2044.
-
(2010)
Brain
, vol.133
, pp. 2032-2044
-
-
Garcia-Reitbock, P.1
Anichtchik, O.2
Bellucci, A.3
-
115
-
-
77956596883
-
Proteasome inhibition modeling nigral neuron degeneration in Parkinson's disease
-
Xie W, Li X, Li C, Zhu W, Jankovic J, Le W. Proteasome inhibition modeling nigral neuron degeneration in Parkinson's disease. J Neurochem 2010; 115: 188-199.
-
(2010)
J Neurochem
, vol.115
, pp. 188-199
-
-
Xie, W.1
Li, X.2
Li, C.3
Zhu, W.4
Jankovic, J.5
Le, W.6
-
116
-
-
0025326719
-
Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases
-
Lowe J, McDermott H, Landon M, Mayer RJ, Wilkinson KD. Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases. J Pathol 1990; 161: 153-160.
-
(1990)
J Pathol
, vol.161
, pp. 153-160
-
-
Lowe, J.1
McDermott, H.2
Landon, M.3
Mayer, R.J.4
Wilkinson, K.D.5
-
117
-
-
78649743957
-
HSP70 and lysosomal storage disorders: novel therapeutic opportunities
-
Petersen NH, Kirkegaard T. HSP70 and lysosomal storage disorders: novel therapeutic opportunities. Biochem Soc Trans 2010; 38: 1479-1483.
-
(2010)
Biochem Soc Trans
, vol.38
, pp. 1479-1483
-
-
Petersen, N.H.1
Kirkegaard, T.2
-
118
-
-
75749102680
-
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology
-
Kirkegaard T, Roth AG, Petersen NH, et al. Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. Nature 2010; 463: 549-553.
-
(2010)
Nature
, vol.463
, pp. 549-553
-
-
Kirkegaard, T.1
Roth, A.G.2
Petersen, N.H.3
-
119
-
-
77954164469
-
Connecting Hsp70, sphingolipid metabolism and lysosomal stability
-
Petersen NH, Kirkegaard T, Olsen OD, Jaattela M. Connecting Hsp70, sphingolipid metabolism and lysosomal stability. Cell Cycle 2010; 9.
-
(2010)
Cell Cycle
, pp. 9
-
-
Petersen, N.H.1
Kirkegaard, T.2
Olsen, O.D.3
Jaattela, M.4
-
120
-
-
77953386183
-
Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities
-
Suzuki Y, Ogawa S, Sakakibara Y. Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities. Perspect Medicin Chem 2009; 3: 7-19.
-
(2009)
Perspect Medicin Chem
, vol.3
, pp. 7-19
-
-
Suzuki, Y.1
Ogawa, S.2
Sakakibara, Y.3
-
121
-
-
77949643182
-
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
-
Khanna R, Benjamin ER, Pellegrino L, et al. The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. FEBS J 2010; 277: 1618-1638.
-
(2010)
FEBS J
, vol.277
, pp. 1618-1638
-
-
Khanna, R.1
Benjamin, E.R.2
Pellegrino, L.3
-
122
-
-
39149092364
-
Chemical chaperone therapy for GM1-gangliosidosis
-
Suzuki Y. Chemical chaperone therapy for GM1-gangliosidosis. Cell Mol Life Sci 2008; 65: 351-353.
-
(2008)
Cell Mol Life Sci
, vol.65
, pp. 351-353
-
-
Suzuki, Y.1
-
123
-
-
78649239916
-
Molecular chaperones as rational drug targets for Parkinson's disease therapeutics
-
Kalia SK, Kalia LV, McLean PJ. Molecular chaperones as rational drug targets for Parkinson's disease therapeutics. CNS Neurol Disord Drug Targets 2010; 9: 741-753.
-
(2010)
CNS Neurol Disord Drug Targets
, vol.9
, pp. 741-753
-
-
Kalia, S.K.1
Kalia, L.V.2
McLean, P.J.3
-
124
-
-
0032936755
-
Etiology and pathogenesis of Parkinson's disease
-
Olanow CW, Tatton WG. Etiology and pathogenesis of Parkinson's disease. Annu Rev Neurosci 1999; 22: 123-144.
-
(1999)
Annu Rev Neurosci
, vol.22
, pp. 123-144
-
-
Olanow, C.W.1
Tatton, W.G.2
-
125
-
-
77956699395
-
New insights into the role of mitochondrial dysfunction and protein aggregation in Parkinson's disease
-
Xie W, Wan OW, Chung KK. New insights into the role of mitochondrial dysfunction and protein aggregation in Parkinson's disease. Biochim Biophys Acta 2010; 1802: 935-941.
-
(2010)
Biochim Biophys Acta
, vol.1802
, pp. 935-941
-
-
Xie, W.1
Wan, O.W.2
Chung, K.K.3
-
126
-
-
33644543761
-
Expanding insights of mitochondrial dysfunction in Parkinson's disease
-
Abou-Sleiman PM, Muqit MM, Wood NW. Expanding insights of mitochondrial dysfunction in Parkinson's disease. Nat Rev Neurosci 2006; 7: 207-219.
-
(2006)
Nat Rev Neurosci
, vol.7
, pp. 207-219
-
-
Abou-Sleiman, P.M.1
Muqit, M.M.2
Wood, N.W.3
-
127
-
-
0036176571
-
Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease)
-
Jolly RD, Brown S, Das AM, Walkley SU. Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease). Neurochem Int 2002; 40: 565-571.
-
(2002)
Neurochem Int
, vol.40
, pp. 565-571
-
-
Jolly, R.D.1
Brown, S.2
Das, A.M.3
Walkley, S.U.4
-
128
-
-
1942503219
-
Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts
-
Lucke T, Hoppner W, Schmidt E, Illsinger S, Das AM. Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol Genet Metab 2004; 82: 93-97.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 93-97
-
-
Lucke, T.1
Hoppner, W.2
Schmidt, E.3
Illsinger, S.4
Das, A.M.5
-
129
-
-
38649117272
-
Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis
-
Takamura A, Higaki K, Kajimaki K, et al. Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis. Biochem Biophys Res Commun 2008; 367: 616-622.
-
(2008)
Biochem Biophys Res Commun
, vol.367
, pp. 616-622
-
-
Takamura, A.1
Higaki, K.2
Kajimaki, K.3
-
130
-
-
67349093250
-
Critical role of iron in the pathogenesis of the murine gangliosidoses
-
Jeyakumar M, Williams I, Smith D, Cox TM, Platt FM. Critical role of iron in the pathogenesis of the murine gangliosidoses. Neurobiol Dis 2009; 34: 406-416.
-
(2009)
Neurobiol Dis
, vol.34
, pp. 406-416
-
-
Jeyakumar, M.1
Williams, I.2
Smith, D.3
Cox, T.M.4
Platt, F.M.5
-
131
-
-
11844278539
-
Enhanced calcium release in the acute neuronopathic form of Gaucher disease
-
Pelled D, Trajkovic-Bodennec S, Lloyd-Evans E, Sidransky E, Schiffmann R, Futerman AH. Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis 2005; 18: 83-88.
-
(2005)
Neurobiol Dis
, vol.18
, pp. 83-88
-
-
Pelled, D.1
Trajkovic-Bodennec, S.2
Lloyd-Evans, E.3
Sidransky, E.4
Schiffmann, R.5
Futerman, A.H.6
-
132
-
-
0033618336
-
Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons
-
Korkotian E, Schwarz A, Pelled D, Schwarzmann G, Segal M, Futerman AH. Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons. J Biol Chem 1999; 274: 21673-21678.
-
(1999)
J Biol Chem
, vol.274
, pp. 21673-21678
-
-
Korkotian, E.1
Schwarz, A.2
Pelled, D.3
Schwarzmann, G.4
Segal, M.5
Futerman, A.H.6
-
133
-
-
77952648551
-
Cell-produced alpha-synuclein is secreted in a calcium-dependent manner by exosomes and impacts neuronal survival
-
Emmanouilidou E, Melachroinou K, Roumeliotis T, et al. Cell-produced alpha-synuclein is secreted in a calcium-dependent manner by exosomes and impacts neuronal survival. J Neurosci 2010; 30: 6838-6851.
-
(2010)
J Neurosci
, vol.30
, pp. 6838-6851
-
-
Emmanouilidou, E.1
Melachroinou, K.2
Roumeliotis, T.3
-
134
-
-
34548172773
-
Different species of alpha-synuclein oligomers induce calcium influx and seeding
-
Danzer KM, Haasen D, Karow AR, et al. Different species of alpha-synuclein oligomers induce calcium influx and seeding. J Neurosci 2007; 27: 9220-9232.
-
(2007)
J Neurosci
, vol.27
, pp. 9220-9232
-
-
Danzer, K.M.1
Haasen, D.2
Karow, A.R.3
-
135
-
-
77549084979
-
Calcium, cellular aging, and selective neuronal vulnerability in Parkinson's disease
-
Surmeier DJ, Guzman JN, Sanchez-Padilla J. Calcium, cellular aging, and selective neuronal vulnerability in Parkinson's disease. Cell Calcium 2010; 47: 175-182.
-
(2010)
Cell Calcium
, vol.47
, pp. 175-182
-
-
Surmeier, D.J.1
Guzman, J.N.2
Sanchez-Padilla, J.3
-
136
-
-
65349159205
-
Calcium homeostasis, selective vulnerability and Parkinson's disease
-
Chan CS, Gertler TS, Surmeier DJ. Calcium homeostasis, selective vulnerability and Parkinson's disease. Trends Neurosci 2009; 32: 249-256.
-
(2009)
Trends Neurosci
, vol.32
, pp. 249-256
-
-
Chan, C.S.1
Gertler, T.S.2
Surmeier, D.J.3
-
137
-
-
67649329442
-
Oxidative stress and Parkinson's disease
-
Jenner P. Oxidative stress and Parkinson's disease. Handb Clin Neurol 2007; 83: 507-520.
-
(2007)
Handb Clin Neurol
, vol.83
, pp. 507-520
-
-
Jenner, P.1
-
138
-
-
68649112842
-
Oxidative and nitrosative stress in Parkinson's disease
-
Tsang AH, Chung KK. Oxidative and nitrosative stress in Parkinson's disease. Biochim Biophys Acta 2009; 1792: 643-650.
-
(2009)
Biochim Biophys Acta
, vol.1792
, pp. 643-650
-
-
Tsang, A.H.1
Chung, K.K.2
-
139
-
-
0029751104
-
Oxidative stress and the pathogenesis of Parkinson's disease
-
Jenner P, Olanow CW. Oxidative stress and the pathogenesis of Parkinson's disease. Neurology 1996; 47: S161-170.
-
(1996)
Neurology
, vol.47
-
-
Jenner, P.1
Olanow, C.W.2
-
140
-
-
0028174370
-
The roles of neuromelanin, binding of metal ions, and oxidative cytotoxicity in the pathogenesis of Parkinson's disease: a hypothesis
-
Enochs WS, Sarna T, Zecca L, Riley PA, Swartz HM. The roles of neuromelanin, binding of metal ions, and oxidative cytotoxicity in the pathogenesis of Parkinson's disease: a hypothesis. J Neural Transm Park Dis Dement Sect 1994; 7: 83-100.
-
(1994)
J Neural Transm Park Dis Dement Sect
, vol.7
, pp. 83-100
-
-
Enochs, W.S.1
Sarna, T.2
Zecca, L.3
Riley, P.A.4
Swartz, H.M.5
-
141
-
-
0036278335
-
Dopamine-dependent neurotoxicity of alpha-synuclein: a mechanism for selective neurodegeneration in Parkinson disease
-
Xu J, Kao SY, Lee FJ, Song W, Jin LW, Yankner BA. Dopamine-dependent neurotoxicity of alpha-synuclein: a mechanism for selective neurodegeneration in Parkinson disease. Nat Med 2002; 8: 600-606.
-
(2002)
Nat Med
, vol.8
, pp. 600-606
-
-
Xu, J.1
Kao, S.Y.2
Lee, F.J.3
Song, W.4
Jin, L.W.5
Yankner, B.A.6
-
142
-
-
55949119836
-
Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease
-
Bras J, Singleton A, Cookson MR, Hardy J. Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J 2008; 275: 5767-5773.
-
(2008)
FEBS J
, vol.275
, pp. 5767-5773
-
-
Bras, J.1
Singleton, A.2
Cookson, M.R.3
Hardy, J.4
-
143
-
-
41949097891
-
C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging
-
van Ham TJ, Thijssen KL, Breitling R, Hofstra RM, Plasterk RH, Nollen EA. C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging. PLoS Genet 2008; 4: e1000027.
-
(2008)
PLoS Genet
, vol.4
-
-
van Ham, T.J.1
Thijssen, K.L.2
Breitling, R.3
Hofstra, R.M.4
Plasterk, R.H.5
Nollen, E.A.6
-
144
-
-
78649790713
-
The role of the ceramide acyl chain length in neurodegeneration: involvement of ceramide synthases
-
Ben-David O, Futerman AH. The role of the ceramide acyl chain length in neurodegeneration: involvement of ceramide synthases. Neuromolecular Med 2010; 12: 341-350.
-
(2010)
Neuromolecular Med
, vol.12
, pp. 341-350
-
-
Ben-David, O.1
Futerman, A.H.2
-
145
-
-
0030066567
-
Ceramide induces apoptosis in cultured mesencephalic neurons
-
Brugg B, Michel PP, Agid Y, Ruberg M. Ceramide induces apoptosis in cultured mesencephalic neurons. J Neurochem 1996; 66: 733-739.
-
(1996)
J Neurochem
, vol.66
, pp. 733-739
-
-
Brugg, B.1
Michel, P.P.2
Agid, Y.3
Ruberg, M.4
-
146
-
-
0030953594
-
Distinct roles for ceramide and glucosylceramide at different stages of neuronal growth
-
Schwarz A, Futerman AH. Distinct roles for ceramide and glucosylceramide at different stages of neuronal growth. J Neurosci 1997; 17: 2929-2938.
-
(1997)
J Neurosci
, vol.17
, pp. 2929-2938
-
-
Schwarz, A.1
Futerman, A.H.2
-
147
-
-
0037338634
-
Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death
-
Darios F, Corti O, Lucking CB, et al. Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death. Hum Mol Genet 2003; 12: 517-526.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 517-526
-
-
Darios, F.1
Corti, O.2
Lucking, C.B.3
-
148
-
-
67649380327
-
Multiple tight phospholipid-binding modes of alpha-synuclein revealed by solution NMR spectroscopy
-
Bodner CR, Dobson CM, Bax A. Multiple tight phospholipid-binding modes of alpha-synuclein revealed by solution NMR spectroscopy. J Mol Biol 2009; 390: 775-790.
-
(2009)
J Mol Biol
, vol.390
, pp. 775-790
-
-
Bodner, C.R.1
Dobson, C.M.2
Bax, A.3
-
149
-
-
75749093356
-
Differential phospholipid binding of alpha-synuclein variants implicated in Parkinson's disease revealed by solution NMR spectroscopy
-
Bodner CR, Maltsev AS, Dobson CM, Bax A. Differential phospholipid binding of alpha-synuclein variants implicated in Parkinson's disease revealed by solution NMR spectroscopy. Biochemistry 2010; 49: 862-871.
-
(2010)
Biochemistry
, vol.49
, pp. 862-871
-
-
Bodner, C.R.1
Maltsev, A.S.2
Dobson, C.M.3
Bax, A.4
-
150
-
-
0035928748
-
Membrane binding and self-association of alpha-synucleins
-
Narayanan V, Scarlata S. Membrane binding and self-association of alpha-synucleins. Biochemistry 2001; 40: 9927-9934.
-
(2001)
Biochemistry
, vol.40
, pp. 9927-9934
-
-
Narayanan, V.1
Scarlata, S.2
-
151
-
-
77956258196
-
The lipid-binding domain of wild type and mutant alpha-synuclein: compactness and interconversion between the broken and extended helix forms
-
Georgieva ER, Ramlall TF, Borbat PP, Freed JH, Eliezer D. The lipid-binding domain of wild type and mutant alpha-synuclein: compactness and interconversion between the broken and extended helix forms. J Biol Chem 2010; 285: 28261-28274.
-
(2010)
J Biol Chem
, vol.285
, pp. 28261-28274
-
-
Georgieva, E.R.1
Ramlall, T.F.2
Borbat, P.P.3
Freed, J.H.4
Eliezer, D.5
-
152
-
-
37549068169
-
Alpha-synuclein selectively binds to anionic phospholipids embedded in liquid-disordered domains
-
Stockl M, Fischer P, Wanker E, Herrmann A. Alpha-synuclein selectively binds to anionic phospholipids embedded in liquid-disordered domains. J Mol Biol 2008; 375: 1394-1404.
-
(2008)
J Mol Biol
, vol.375
, pp. 1394-1404
-
-
Stockl, M.1
Fischer, P.2
Wanker, E.3
Herrmann, A.4
-
153
-
-
77958482255
-
The N-terminus of the intrinsically disordered protein alpha-synuclein triggers membrane binding and helix folding
-
Bartels T, Ahlstrom LS, Leftin A, et al. The N-terminus of the intrinsically disordered protein alpha-synuclein triggers membrane binding and helix folding. Biophys J 2010; 99: 2116-2124.
-
(2010)
Biophys J
, vol.99
, pp. 2116-2124
-
-
Bartels, T.1
Ahlstrom, L.S.2
Leftin, A.3
-
154
-
-
3342951965
-
Lipid rafts mediate the synaptic localization of alpha-synuclein
-
Fortin DL, Troyer MD, Nakamura K, Kubo S, Anthony MD, Edwards RH. Lipid rafts mediate the synaptic localization of alpha-synuclein. J Neurosci 2004; 24: 6715-6723.
-
(2004)
J Neurosci
, vol.24
, pp. 6715-6723
-
-
Fortin, D.L.1
Troyer, M.D.2
Nakamura, K.3
Kubo, S.4
Anthony, M.D.5
Edwards, R.H.6
-
155
-
-
33744788870
-
Quantification of alpha-synuclein binding to lipid vesicles using fluorescence correlation spectroscopy
-
Rhoades E, Ramlall TF, Webb WW, Eliezer D. Quantification of alpha-synuclein binding to lipid vesicles using fluorescence correlation spectroscopy. Biophys J 2006; 90: 4692-4700.
-
(2006)
Biophys J
, vol.90
, pp. 4692-4700
-
-
Rhoades, E.1
Ramlall, T.F.2
Webb, W.W.3
Eliezer, D.4
-
156
-
-
2942672495
-
Secondary accumulation of gangliosides in lysosomal storage disorders
-
Walkley SU. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol 2004; 15: 433-444.
-
(2004)
Semin Cell Dev Biol
, vol.15
, pp. 433-444
-
-
Walkley, S.U.1
-
157
-
-
48249146962
-
Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis
-
Jabs S, Quitsch A, Kakela R, et al. Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis. J Neurochem 2008; 106: 1415-1425.
-
(2008)
J Neurochem
, vol.106
, pp. 1415-1425
-
-
Jabs, S.1
Quitsch, A.2
Kakela, R.3
-
158
-
-
33847238458
-
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer
-
Sevin C, Verot L, Benraiss A, et al. Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer. Gene Ther 2007; 14: 405-414.
-
(2007)
Gene Ther
, vol.14
, pp. 405-414
-
-
Sevin, C.1
Verot, L.2
Benraiss, A.3
-
159
-
-
79961209378
-
Pharmacological chaperones for the treatment of CNS disorders
-
In: Sacramento, CA.
-
Wustman BA. Pharmacological chaperones for the treatment of CNS disorders. In: Lysosomal Diseases and the Brain. conference. Sacramento, CA; 2008.
-
(2008)
Lysosomal Diseases and the Brain. conference
-
-
Wustman, B.A.1
-
160
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105: 151-156.
-
(1999)
Hum Genet
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.1
Wevers, R.A.2
Kleijer, W.J.3
-
161
-
-
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
-
162
-
-
77956060447
-
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
-
Poupetova H, Ledvinova J, Berna L, Dvorakova L, Kozich V, Elleder M. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 2010; 33: 387-396.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 387-396
-
-
Poupetova, H.1
Ledvinova, J.2
Berna, L.3
Dvorakova, L.4
Kozich, V.5
Elleder, M.6
|