-
1
-
-
52449086856
-
Second consensus statement on the diagnosis of multiple system atrophy
-
Gilman S, Wenning GK, Low PA, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology 2008;71:670-676.
-
(2008)
Neurology
, vol.71
, pp. 670-676
-
-
Gilman, S.1
Wenning, G.K.2
Low, P.A.3
-
2
-
-
0024843373
-
Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome)
-
Papp MI, Kahn JE, Lantos PL. Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome). J Neurol Sci 1989;94:79-100.
-
(1989)
J Neurol Sci
, vol.94
, pp. 79-100
-
-
Papp, M.I.1
Kahn, J.E.2
Lantos, P.L.3
-
3
-
-
11944253337
-
Oligodendroglial microtubular tangles in olivopontocerebellar atrophy
-
Nakazato Y, Yamazaki H, Hirato J, et al. Oligodendroglial microtubular tangles in olivopontocerebellar atrophy. J Neuropathol Exp Neurol 1990;49:521-530.
-
(1990)
J Neuropathol Exp Neurol
, vol.49
, pp. 521-530
-
-
Nakazato, Y.1
Yamazaki, H.2
Hirato, J.3
-
4
-
-
0031713491
-
Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein
-
Tu PH, Galvin JE, Baba M, et al. Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein. Ann Neurol 1998;44:415-422.
-
(1998)
Ann Neurol
, vol.44
, pp. 415-422
-
-
Tu, P.H.1
Galvin, J.E.2
Baba, M.3
-
5
-
-
0032546895
-
Alpha-synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy
-
Wakabayashi K, Yoshimoto M, Tsuji S, Takahashi H. Alpha-synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy. Neurosci Lett 1998;249:180-182.
-
(1998)
Neurosci Lett
, vol.249
, pp. 180-182
-
-
Wakabayashi, K.1
Yoshimoto, M.2
Tsuji, S.3
Takahashi, H.4
-
6
-
-
70349578343
-
Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy
-
Al-Chalabi A, Durr A, Wood NW, et al. Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy. PLoS One 2009;4:e7114.
-
(2009)
Plos One
, vol.4
-
-
Al-Chalabi, A.1
Durr, A.2
Wood, N.W.3
-
7
-
-
67249139655
-
SNCA variants are associated with increased risk for multiple system atrophy
-
Scholz SW, Houlden H, Schulte C, et al. SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol 2009;65:610-614.
-
(2009)
Ann Neurol
, vol.65
, pp. 610-614
-
-
Scholz, S.W.1
Houlden, H.2
Schulte, C.3
-
8
-
-
84880440278
-
Mutations in COQ2 in familial and sporadic multiplesystem atrophy
-
The Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiplesystem atrophy. N Engl J Med 2013;369:233-244.
-
(2013)
N Engl J Med
, vol.369
, pp. 233-244
-
-
-
10
-
-
0031789960
-
Lewy body diseases and multiple system atrophy as alpha-synucleinopathies
-
Goedert M, Spillantini MG. Lewy body diseases and multiple system atrophy as alpha-synucleinopathies. Mol Psychiatry 1998;3:462-465.
-
(1998)
Mol Psychiatry
, vol.3
, pp. 462-465
-
-
Goedert, M.1
Spillantini, M.G.2
-
11
-
-
84885461450
-
Kara E, et al. a-Synucleinopathy associated with G51D SNCA mutation: A link between Parkinson’s disease and multiple system atrophy?
-
Kiely AP, Asi YT, Kara E, et al. a-Synucleinopathy associated with G51D SNCA mutation: A link between Parkinson’s disease and multiple system atrophy? Acta Neuropathol 2013;125:753-769.
-
(2013)
Acta Neuropathol
, vol.125
, pp. 753-769
-
-
Kiely, A.P.1
Asi, Y.T.2
-
12
-
-
84902118984
-
A novel asynuclein mutation A53E associated with atypical multiple system atrophy and Parkinson’s disease-type pathology
-
Pasanen P, Myllykangas L, Siitonen M, et al. A novel asynuclein mutation A53E associated with atypical multiple system atrophy and Parkinson’s disease-type pathology. Neurobiol Aging 2014;35:2180.e1-2180.e5.
-
(2014)
Neurobiol Aging
, vol.35
, pp. e1-2180
-
-
Pasanen, P.1
Myllykangas, L.2
Siitonen, M.3
-
13
-
-
77955922489
-
Familial aggregation in atypical Parkinson’s disease: A case control study in multiple system atrophy and progressive supranuclear palsy
-
Vidal JS, Vidailhet M, Derkinderen P, et al. Familial aggregation in atypical Parkinson’s disease: A case control study in multiple system atrophy and progressive supranuclear palsy. J Neurol 2010;257:1388-1393.
-
(2010)
J Neurol
, vol.257
, pp. 1388-1393
-
-
Vidal, J.S.1
Vidailhet, M.2
Derkinderen, P.3
-
14
-
-
0026115598
-
Environmentaloccupational risk factors and familial associations in multiple system atrophy: A preliminary investigation
-
Nee LE, Gomez MR, Dambrosia J, et al. Environmentaloccupational risk factors and familial associations in multiple system atrophy: A preliminary investigation. Clin Auton Res 1991;1:9-13.
-
(1991)
Clin Auton Res
, vol.1
, pp. 9-13
-
-
Nee, L.E.1
Gomez, M.R.2
Dambrosia, J.3
-
15
-
-
84887903040
-
Update on novel familial forms of Parkinson’s disease and multiple system atrophy
-
Fujioka S, Ogaki K, Tacik PM, et al. Update on novel familial forms of Parkinson’s disease and multiple system atrophy. Parkinsonism Relat Disord 2014;20(Suppl 1):S29-S34.
-
(2014)
Parkinsonism Relat Disord
, vol.20
, pp. S29-S34
-
-
Fujioka, S.1
Ogaki, K.2
Tacik, P.M.3
-
16
-
-
66249109910
-
Mutations for Gaucher disease confer high susceptibility to Parkinson disease
-
Mitsui J, Mizuta I, Toyoda A, et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol 2009;66:571-576.
-
(2009)
Arch Neurol
, vol.66
, pp. 571-576
-
-
Mitsui, J.1
Mizuta, I.2
Toyoda, A.3
-
17
-
-
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
-
18
-
-
84878798127
-
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies
-
Nalls MA, Duran R, Lopez G, et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol 2013;70:727-735.
-
(2013)
JAMA Neurol
, vol.70
, pp. 727-735
-
-
Nalls, M.A.1
Duran, R.2
Lopez, G.3
-
20
-
-
0033911997
-
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
-
Koprivica V, Stone DL, Park JK, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000;66:1777-1786.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1777-1786
-
-
Koprivica, V.1
Stone, D.L.2
Park, J.K.3
-
21
-
-
0022650774
-
Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase
-
Tsuji S, Choudary PV, Martin BM, et al. Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. J Biol Chem 1986;261:50-53.
-
(1986)
J Biol Chem
, vol.261
, pp. 50-53
-
-
Tsuji, S.1
Choudary, P.V.2
Martin, B.M.3
-
23
-
-
84868648317
-
Simultaneous detection of Gaucher’s disease and renal involvement of non-Hodgkin’s lymphoma: The first Asian case report and a review of literature
-
Kim MJ, Suh JT, Lee HJ, et al. Simultaneous detection of Gaucher’s disease and renal involvement of non-Hodgkin’s lymphoma: The first Asian case report and a review of literature. Ann Clin Lab Sci 2012;42:293-301.
-
(2012)
Ann Clin Lab Sci
, vol.42
, pp. 293-301
-
-
Kim, M.J.1
Suh, J.T.2
Lee, H.J.3
-
24
-
-
0027035014
-
Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants
-
He GS, Grace ME, Grabowski GA. Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants. Hum Mutat 1992;1:423-427.
-
(1992)
Hum Mutat
, vol.1
, pp. 423-427
-
-
He, G.S.1
Grace, M.E.2
Grabowski, G.A.3
-
25
-
-
0031005312
-
Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses
-
Cormand B, Grinberg D, Gort L, et al. Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses. Am J Med Genet 1997;70:437-443.
-
(1997)
Am J Med Genet
, vol.70
, pp. 437-443
-
-
Cormand, B.1
Grinberg, D.2
Gort, L.3
-
26
-
-
0034103259
-
Gaucher disease: Expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients
-
Amaral O, Marcao A, Sa Miranda M, et al. Gaucher disease: Expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. Eur J Hum Genet 2000;8:95-102.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 95-102
-
-
Amaral, O.1
Marcao, A.2
Sa Miranda, M.3
-
27
-
-
0028860605
-
Characterization of glucocerebrosidase in Greek Gaucher disease patients: Mutation analysis and biochemical studies
-
Michelakakis H, Dimitriou E, Van Weely S, et al. Characterization of glucocerebrosidase in Greek Gaucher disease patients: Mutation analysis and biochemical studies. J Inherit Metab Dis 1995;18:609-615.
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 609-615
-
-
Michelakakis, H.1
Dimitriou, E.2
Van Weely, S.3
-
28
-
-
0027419091
-
Gaucher’s disease in the United Kingdom: Screening non-Jewish patients for the two common mutations
-
Walley AJ, Barth ML, Ellis I, et al. Gaucher’s disease in the United Kingdom: Screening non-Jewish patients for the two common mutations. J Med Genet 1993;30:280-283.
-
(1993)
J Med Genet
, vol.30
, pp. 280-283
-
-
Walley, A.J.1
Barth, M.L.2
Ellis, I.3
-
29
-
-
0028352317
-
New Gaucher disease mutations in exon 10: A novel L444R mutation produces a new NciI site the same as L444P
-
Uchiyama A, Tomatsu S, Kondo N, et al. New Gaucher disease mutations in exon 10: A novel L444R mutation produces a new NciI site the same as L444P. Hum Mol Genet 1994;3:1183-1184.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1183-1184
-
-
Uchiyama, A.1
Tomatsu, S.2
Kondo, N.3
-
31
-
-
65249115797
-
Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy
-
Segarane B, Li A, Paudel R, et al. Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy. Neurology 2009;72:1185-1186.
-
(2009)
Neurology
, vol.72
, pp. 1185-1186
-
-
Segarane, B.1
Li, A.2
Paudel, R.3
-
32
-
-
77951204198
-
Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients
-
Jamrozik Z, Lugowska A, Slawek J, Kwiecinski H. Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients. J Neurol 2010;257:459-460.
-
(2010)
J Neurol
, vol.257
, pp. 459-460
-
-
Jamrozik, Z.1
Lugowska, A.2
Slawek, J.3
Kwiecinski, H.4
-
33
-
-
84872332641
-
Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China
-
Sun QY, Guo JF, Han WW, et al. Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China. J Clin Neurosci 2013;20:217-219.
-
(2013)
J Clin Neurosci
, vol.20
, pp. 217-219
-
-
Sun, Q.Y.1
Guo, J.F.2
Han, W.W.3
-
34
-
-
84875020947
-
No association of GBA mutations and multiple system atrophy
-
Srulijes K, Hauser AK, Guella I, et al. No association of GBA mutations and multiple system atrophy. Eur J Neurol 2013;20:e61-e62.
-
(2013)
Eur J Neurol
, vol.20
, pp. e61-e62
-
-
Srulijes, K.1
Hauser, A.K.2
Guella, I.3
-
35
-
-
84902201548
-
iPSCderived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis
-
Schöndorf DC, Aureli M, McAllister FE, et al. iPSCderived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis. Nat Commun 2014;5:4028.
-
(2014)
Nat Commun
, vol.5
, pp. 4028
-
-
Schöndorf, D.C.1
Aureli, M.2
McAllister, F.E.3
-
36
-
-
84894528843
-
Reduced glucocerebrosidase is associated with increased a-synuclein in sporadic Parkinson’s disease
-
Murphy KE, Gysbers AM, Abbott SK, et al. Reduced glucocerebrosidase is associated with increased a-synuclein in sporadic Parkinson’s disease. Brain 2014;137:834-848.
-
(2014)
Brain
, vol.137
, pp. 834-848
-
-
Murphy, K.E.1
Gysbers, A.M.2
Abbott, S.K.3
|