-
1
-
-
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
-
2
-
-
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
-
3
-
-
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
-
5
-
-
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. (Pubitemid 26319021)
-
(1996)
QJM - Monthly Journal of the Association of Physicians
, vol.89
, Issue.9
, pp. 691-694
-
-
Neudorfer, O.1
Giladi, N.2
Elstein, D.3
Abrahamov, A.4
Turezkite, T.5
Achai, E.6
Reches, A.7
Bembi, B.8
Zimran, A.9
-
6
-
-
33750732274
-
Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed?
-
Paris
-
Cherin P, Sedel F, Mignot C, et al. Neurological manifestations of type 1 Gaucher's disease: is a revision of disease classification needed? Rev Neurol (Paris) 2006;162:1076-1083.
-
(2006)
Rev Neurol
, vol.162
, pp. 1076-1083
-
-
Cherin, P.1
Sedel, F.2
Mignot, C.3
-
7
-
-
34548726339
-
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
-
DOI 10.1212/01.wnl.0000276989.17578.02, PII 0000611420070918000013
-
Clark LN, Ross BM, Wang Y, et al. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology 2007;69:1270-1277. (Pubitemid 47429028)
-
(2007)
Neurology
, vol.69
, Issue.12
, pp. 1270-1277
-
-
Clark, L.N.1
Ross, B.M.2
Wang, Y.3
Mejia-Santana, H.4
Harris, J.5
Louis, E.D.6
Cote, L.J.7
Andrews, H.8
Fahn, S.9
Waters, C.10
Ford, B.11
Frucht, S.12
Ottman, R.13
Marder, K.14
-
8
-
-
0032996131
-
Parkinson's syndrome preceding clinical manifestation of Gaucher's disease
-
Machaczka M, Rucinska M, Skotnicki AB, Jurczak W. Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am J Hematol 1999;61:216-217.
-
(1999)
Am J Hematol
, vol.61
, pp. 216-217
-
-
Machaczka, M.1
Rucinska, M.2
Skotnicki, A.B.3
Jurczak, W.4
-
9
-
-
0034848419
-
Gaucher disease and parkinsonism: A phenotypic and genotypic characterization
-
Tayebi N, Callahan M, Madike V, et al. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 2001;73:313-321.
-
(2001)
Mol Genet Metab
, vol.73
, pp. 313-321
-
-
Tayebi, N.1
Callahan, M.2
Madike, V.3
-
10
-
-
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
-
11
-
-
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
-
12
-
-
0346059412
-
Glucocerebrosidase mutations in subjects with parkinsonism
-
Lwin A, Orvisky E, Goker-Alpan O, Lamarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 2004;81:70-73.
-
(2004)
Mol Genet Metab
, vol.81
, pp. 70-73
-
-
Lwin, A.1
Orvisky, E.2
Goker-Alpan, O.3
Lamarca, M.E.4
Sidransky, E.5
-
13
-
-
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
-
14
-
-
7444237665
-
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004;351:1972-1977.
-
(2004)
N Engl J Med
, vol.351
, pp. 1972-1977
-
-
Aharon-Peretz, J.1
Rosenbaum, H.2
Gershoni-Baruch, R.3
-
15
-
-
14044262300
-
Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity
-
Clark LN, Nicolai A, Afridi S, et al. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Mov Disord 2005;20:100-103.
-
(2005)
Mov Disord
, vol.20
, pp. 100-103
-
-
Clark, L.N.1
Nicolai, A.2
Afridi, S.3
-
16
-
-
20944434070
-
Analysis of the glucocerebrosidase gene in Parkinson's disease
-
Sato C, Morgan A, Lang AE, et al. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov Disord 2005;20:367-370.
-
(2005)
Mov Disord
, vol.20
, pp. 367-370
-
-
Sato, C.1
Morgan, A.2
Lang, A.E.3
-
17
-
-
60549098601
-
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset
-
Nichols WC, Pankratz N, Marek DK, et al. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009;72:310-316.
-
(2009)
Neurology
, vol.72
, pp. 310-316
-
-
Nichols, W.C.1
Pankratz, N.2
Marek, D.K.3
-
18
-
-
33745920808
-
Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with Parkinsonism
-
Eblan MJ, Scholz S, Stubblefield B, et al. Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with Parkinsonism. Neurosci Lett 2006;404:163-165.
-
(2006)
Neurosci Lett
, vol.404
, pp. 163-165
-
-
Eblan, M.J.1
Scholz, S.2
Stubblefield, B.3
-
19
-
-
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
-
20
-
-
34447273298
-
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients
-
Tan EK, Tong J, Fook-Chong S, et al. Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Arch Neurol 2007;64:1056-1058.
-
(2007)
Arch Neurol
, vol.64
, pp. 1056-1058
-
-
Tan, E.K.1
Tong, J.2
Fook-Chong, S.3
-
21
-
-
63149102361
-
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
-
Bras J, Paisan-Ruiz C, Guerreiro R, et al. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging 2007.
-
(2007)
Neurobiol Aging
-
-
Bras, J.1
Paisan-Ruiz, C.2
Guerreiro, R.3
-
22
-
-
33646171709
-
Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population
-
Toft M, Pielsticker L, Ross OA, Aasly JO, Farrer MJ. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology 2006;66:415-417.
-
(2006)
Neurology
, vol.66
, pp. 415-417
-
-
Toft, M.1
Pielsticker, L.2
Ross, O.A.3
Aasly, J.O.4
Farrer, M.J.5
-
23
-
-
43049170734
-
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy
-
De Marco EV, Annesi G, Tarantino P, et al. Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov Disord 2008;23:460-463.
-
(2008)
Mov Disord
, vol.23
, pp. 460-463
-
-
De Marco, E.V.1
Annesi, G.2
Tarantino, P.3
-
24
-
-
67650087652
-
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
-
Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009.
-
(2009)
Brain
-
-
Neumann, J.1
Bras, J.2
Deas, E.3
-
25
-
-
66249129677
-
Association of glucocerebrosidase mutations with dementia with Lewy bodies
-
Clark LN, Kartsaklis LA, Wolf Gilbert R, et al. Association of glucocerebrosidase mutations with dementia with Lewy bodies. Arch Neurol 2009;66:578-583.
-
(2009)
Arch Neurol
, vol.66
, pp. 578-583
-
-
Clark, L.N.1
Kartsaklis, L.A.2
Wolf Gilbert, R.3
-
26
-
-
18444364221
-
Genome screen to identify susceptibility genes for Parkinson disease in a sample without Parkin mutations
-
Pankratz N, Nichols WC, Uniacke SK, et al. Genome screen to identify susceptibility genes for Parkinson disease in a sample without Parkin mutations. Am J Hum Genet 2002;71:124-135.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 124-135
-
-
Pankratz, N.1
Nichols, W.C.2
Uniacke, S.K.3
-
27
-
-
31344439221
-
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews
-
Ozelius LJ, Senthil G, Saunders-Pullman R, et al. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med 2006;354:424-425.
-
(2006)
N Engl J Med
, vol.354
, pp. 424-425
-
-
Ozelius, L.J.1
Senthil, G.2
Saunders-Pullman, R.3
-
28
-
-
0014082977
-
Parkinsonism: Onset, progression and mortality
-
Hoehn MM, Yahr MD. Parkinsonism: onset, progression and mortality. Neurology 1967;17:427-442.
-
(1967)
Neurology
, vol.17
, pp. 427-442
-
-
Hoehn, M.M.1
Yahr, M.D.2
-
29
-
-
0000224448
-
Unified Parkinson's disease rating scale
-
Members of the UPDRS Development Committee Fahn S, Marsden CD, Goldstein M, Caine DB, editors. New Jersey: Macmillan Healthcare Information
-
Fahn S, Elton RL. Members of the UPDRS Development Committee. Unified Parkinson's disease rating scale. In: Fahn S, Marsden CD, Goldstein M, Caine DB, editors. Recent developments in Parkinson's disease. New Jersey: Macmillan Healthcare Information; 1987. p 153-163.
-
(1987)
Recent Developments in Parkinson's Disease
, pp. 153-163
-
-
Fahn, S.1
Elton, R.L.2
-
34
-
-
0000300145
-
A demographically based index of premorbid intelligence for the WAIS-R
-
Barona A, Reynolds C, Chastain R. A demographically based index of premorbid intelligence for the WAIS-R. J Consulting Clin Psychology 1984;52:885-887.
-
(1984)
J Consulting Clin Psychology
, vol.52
, pp. 885-887
-
-
Barona, A.1
Reynolds, C.2
Chastain, R.3
-
36
-
-
0032436088
-
Normative data for equivalent, parallel forms of the judgment of line orientation test
-
Woodard JL, Benedict RH, Salthouse TA, Toth JP, Zgaljardic DJ, Hancock HE. Normative data for equivalent, parallel forms of the judgment of line orientation test. J Clin Exp Neuropsychol 1998;20:457-462.
-
(1998)
J Clin Exp Neuropsychol
, vol.20
, pp. 457-462
-
-
Woodard, J.L.1
Benedict, R.H.2
Salthouse, T.A.3
Toth, J.P.4
Zgaljardic, D.J.5
Hancock, H.E.6
-
37
-
-
77954976299
-
-
Third ed. Texas: The Psychological Corporation
-
Wechsler D. Wechler memory scale, Third ed. Texas: The Psychological Corporation; 1997.
-
(1997)
Wechler Memory Scale
-
-
Wechsler, D.1
-
38
-
-
0029401262
-
Early differential diagnosis of Parkinson's disease with 18F-fluorodeoxyglucose and positron emission tomography
-
Eidelberg D, Moeller JR, Ishikawa T, et al. Early differential diagnosis of Parkinson's disease with 18F-fluorodeoxyglucose and positron emission tomography. Neurology 1995;45:1995-2004.
-
(1995)
Neurology
, vol.45
, pp. 1995-2004
-
-
Eidelberg, D.1
Moeller, J.R.2
Ishikawa, T.3
-
39
-
-
0036789430
-
Comparative analysis of striatal FDOPA uptake in Parkinson's disease: Ratio method versus graphical approach
-
Dhawan V, Ma Y, Pillai V, et al. Comparative analysis of striatal FDOPA uptake in Parkinson's disease: ratio method versus graphical approach. J Nucl Med 2002;43:1324-1330.
-
(2002)
J Nucl Med
, vol.43
, pp. 1324-1330
-
-
Dhawan, V.1
Ma, Y.2
Pillai, V.3
-
40
-
-
0021326210
-
Development of the University of Pennsylvania smell identification test: A standardized microencapsulated test of olfactory function
-
Doty RL, Shaman P, Dann M. Development of the University of Pennsylvania smell identification test: a standardized microencapsulated test of olfactory function. Physiol Behav 1984;32:489-502.
-
(1984)
Physiol Behav
, vol.32
, pp. 489-502
-
-
Doty, R.L.1
Shaman, P.2
Dann, M.3
-
41
-
-
36148995473
-
Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles
-
Hagenah JM, Konig IR, Becker B, et al. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol 2007;254:1407-1413.
-
(2007)
J Neurol
, vol.254
, pp. 1407-1413
-
-
Hagenah, J.M.1
Konig, I.R.2
Becker, B.3
-
42
-
-
50449095891
-
Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations
-
Hagenah JM, Becker B, Bruggemann N, et al. Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations. J Neurol Neurosurg Psychiatry 2008; 79:1071-1074.
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, pp. 1071-1074
-
-
Hagenah, J.M.1
Becker, B.2
Bruggemann, N.3
-
43
-
-
14544302671
-
Differentiation of Parkinson's disease and atypical parkinsonian syndromes by transcranial ultrasound
-
Behnke S, Berg D, Naumann M, Becker G. Differentiation of Parkinson's disease and atypical parkinsonian syndromes by transcranial ultrasound. J Neurol Neurosurg Psychiatry 2005;76: 423-425.
-
(2005)
J Neurol Neurosurg Psychiatry
, vol.76
, pp. 423-425
-
-
Behnke, S.1
Berg, D.2
Naumann, M.3
Becker, G.4
-
44
-
-
34047223232
-
DLB and PDD boundary issues: Diagnosis, treatment, molecular pathology, and biomarkers
-
Lippa CF, Duda JE, Grossman M, et al. DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology 2007;68:812-819.
-
(2007)
Neurology
, vol.68
, pp. 812-819
-
-
Lippa, C.F.1
Duda, J.E.2
Grossman, M.3
-
45
-
-
3543098625
-
Sonographic discrimination of corticobasal degeneration vs progressive supranuclear palsy
-
Walter U, Dressler D, Wolters A, Probst T, Grossmann A, Benecke R. Sonographic discrimination of corticobasal degeneration vs progressive supranuclear palsy. Neurology 2004;63:504-509.
-
(2004)
Neurology
, vol.63
, pp. 504-509
-
-
Walter, U.1
Dressler, D.2
Wolters, A.3
Probst, T.4
Grossmann, A.5
Benecke, R.6
-
46
-
-
27844547163
-
In vivo detection of iron and neuromelanin by transcranial sonography: A new approach for early detection of substantia nigra damage
-
Zecca L, Berg D, Arzberger T, et al. In vivo detection of iron and neuromelanin by transcranial sonography: a new approach for early detection of substantia nigra damage. Mov Disord 2005;20:1278-1285.
-
(2005)
Mov Disord
, vol.20
, pp. 1278-1285
-
-
Zecca, L.1
Berg, D.2
Arzberger, T.3
-
47
-
-
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
-
48
-
-
33745642481
-
Sonographic discrimination of dementia with Lewy bodies and Parkinson's disease with dementia
-
Walter U, Dressler D, Wolters A, Wittstock M, Greim B, Benecke R. Sonographic discrimination of dementia with Lewy bodies and Parkinson's disease with dementia. J Neurol 2006; 253:448-454.
-
(2006)
J Neurol
, vol.253
, pp. 448-454
-
-
Walter, U.1
Dressler, D.2
Wolters, A.3
Wittstock, M.4
Greim, B.5
Benecke, R.6
-
49
-
-
0037333666
-
Staging of brain pathology related to sporadic Parkinson's disease
-
Braak H, Del Tredici K, Rub U, De Vos RA, Jansen Steur EN, Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging 2003;24:197-211.
-
(2003)
Neurobiol Aging
, vol.24
, pp. 197-211
-
-
Braak, H.1
Del Tredici, K.2
Rub, U.3
De Vos, R.A.4
Jansen Steur, E.N.5
Braak, E.6
-
50
-
-
33845994703
-
Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier
-
Kono S, Shirakawa K, Ouchi Y, et al. Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier. J Neurol Sci 2007;252: 181-184.
-
(2007)
J Neurol Sci
, vol.252
, pp. 181-184
-
-
Kono, S.1
Shirakawa, K.2
Ouchi, Y.3
-
51
-
-
33748304674
-
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
-
Goker-Alpan O, Giasson BI, Eblan MJ, et al. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology 2006;67:908-910.
-
(2006)
Neurology
, vol.67
, pp. 908-910
-
-
Goker-Alpan, O.1
Giasson, B.I.2
Eblan, M.J.3
-
52
-
-
77954991074
-
LRRK2 mutations in patients with Parkinson's disease from Peru and Uruguay
-
Mata IF, Cosentino C, Marca V, et al. LRRK2 mutations in patients with Parkinson's disease from Peru and Uruguay. Parkinsonism Relat Disord 2008.
-
(2008)
Parkinsonism Relat Disord
-
-
Mata, I.F.1
Cosentino, C.2
Marca, V.3
-
53
-
-
13844317890
-
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
Zimran A, Neudorfer O, Elstein D. The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2005; 352:728-731.
-
(2005)
N Engl J Med
, vol.352
, pp. 728-731
-
-
Zimran, A.1
Neudorfer, O.2
Elstein, D.3
-
54
-
-
34547661700
-
Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: A case report of 24 months' oral substrate reduction therapy with miglustat
-
Hughes DA, Ginsberg L, Baker R, et al. Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: a case report of 24 months' oral substrate reduction therapy with miglustat. Parkinsonism Relat Disord 2007;13:365-368.
-
(2007)
Parkinsonism Relat Disord
, vol.13
, pp. 365-368
-
-
Hughes, D.A.1
Ginsberg, L.2
Baker, R.3
-
55
-
-
38349111128
-
Treating patients with Gaucher disease and parkinsonism: Misrepresentation in a title
-
Goker-Alpan O, Sidransky E. Treating patients with Gaucher disease and parkinsonism: misrepresentation in a title. Parkinsonism Relat Disord 2008;14:81.
-
(2008)
Parkinsonism Relat Disord
, vol.14
, pp. 81
-
-
Goker-Alpan, O.1
Sidransky, E.2
|