-
1
-
-
84942256076
-
Gaucher disease: A lysosomal neurodegenerative disorder
-
Huang WJ, Zhang X, Chen WW: Gaucher disease: a lysosomal neurodegenerative disorder. Eur Rev Med Pharmacol Sci 2015; 19: 1219-1226.
-
(2015)
Eur Rev Med Pharmacol Sci
, vol.19
, pp. 1219-1226
-
-
Huang, W.J.1
Zhang, X.2
Chen, W.W.3
-
2
-
-
84986885539
-
The neuropsychiatric and motor profile of GBAassociated Parkinson's disease: A review
-
Pal G, Robertson E, O'Keefe J, Hall D: The neuropsychiatric and motor profile of GBAassociated Parkinson's disease: a review. Mov Disord Clin Pract 2016; 3: 4-8.
-
(2016)
Mov Disord Clin Pract
, vol.3
, pp. 4-8
-
-
Pal, G.1
Robertson, E.2
O'Keefe, J.3
Hall, D.4
-
3
-
-
84905054113
-
Visual short-term memory deficits associated with GBA mutation and Parkinson's disease
-
Zokaei N, McNeill A, Proukakis C, Beavan M, Jarman P, et al: Visual short-term memory deficits associated with GBA mutation and Parkinson's disease. Brain 2014; 137(pt 8):2303-2311.
-
(2014)
Brain
, vol.137
, pp. 2303-2311
-
-
Zokaei, N.1
McNeill, A.2
Proukakis, C.3
Beavan, M.4
Jarman, P.5
Et, A.L.6
-
4
-
-
84945189692
-
Variants associated with Gaucher disease in multiple system atrophy
-
Mitsui J, Matsukawa T, Sasaki H, Yabe I, Matsushima M, et al: Variants associated with Gaucher disease in multiple system atrophy. Ann Clin Transl Neurol 2015; 2: 417-426.
-
(2015)
Ann Clin Transl Neurol
, vol.2
, pp. 417-426
-
-
Mitsui, J.1
Matsukawa, T.2
Sasaki, H.3
Yabe, I.4
Matsushima, M.5
Et, A.L.6
-
5
-
-
84929703186
-
Glucocerebrosidase and Parkinson disease: Recent advances
-
Schapira AH: Glucocerebrosidase and Parkinson disease: recent advances. Mol Cell Neurosci 2015; 66(pt A):37-42.
-
(2015)
Mol Cell Neurosci
, vol.66
, pp. 37-42
-
-
Schapira, A.H.1
-
6
-
-
84922971361
-
Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort
-
Beavan M, McNeill A, Proukakis C, Hughes DA, Mehta A, Schapira AH: Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort. JAMA Neurol 2015; 72: 201-208.
-
(2015)
JAMA Neurol
, vol.72
, pp. 201-208
-
-
Beavan, M.1
McNeill, A.2
Proukakis, C.3
Hughes, D.A.4
Mehta, A.5
Schapira, A.H.6
-
7
-
-
0036155174
-
Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards
-
Chamoles NA, Blanco M, Gaggioli D, Casentini C: Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta 2002; 317: 191-197.
-
(2002)
Clin Chim Acta
, vol.317
, pp. 191-197
-
-
Chamoles, N.A.1
Blanco, M.2
Gaggioli, D.3
Casentini, C.4
-
8
-
-
0018895371
-
Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease
-
Raghavan SS, Topol J, Kolodny EH: Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease. Am J Hum Genet 1980; 32: 158-173.
-
(1980)
Am J Hum Genet
, vol.32
, pp. 158-173
-
-
Raghavan, S.S.1
Topol, J.2
Kolodny, E.H.3
-
9
-
-
84862667387
-
A single-question screen for rapid eye movement sleep behavior disorder: A multicenter validation study
-
Postuma RB, Arnulf I, Hogl B, Iranzo A, Miyamoto T, Dauvilliers Y, et al: A single-question screen for rapid eye movement sleep behavior disorder: a multicenter validation study. Mov Disord 2012; 27: 913-916.
-
(2012)
Mov Disord
, vol.27
, pp. 913-916
-
-
Postuma, R.B.1
Arnulf, I.2
Hogl, B.3
Iranzo, A.4
Miyamoto, T.5
Dauvilliers, Y.6
-
10
-
-
84860355426
-
Validation of a new scale to assess olfactory dysfunction in patients with Parkinson's disease
-
Millar Vernetti P, Perez Lloret S, Rossi M, Cerquetti D, Merello M: Validation of a new scale to assess olfactory dysfunction in patients with Parkinson's disease. Parkinsonism Relat Disord 2012; 18: 358-361.
-
(2012)
Parkinsonism Relat Disord
, vol.18
, pp. 358-361
-
-
Millar Vernetti, P.1
Perez Lloret, S.2
Rossi, M.3
Cerquetti, D.4
Merello, M.5
-
11
-
-
61449165975
-
Movement disorder society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): Scale presentation and clinimetric testing results
-
Movement Disorder Society UPDRS Revision Task Force
-
Goetz CG, Tilley BC, Shaftman SR, Stebbins GT, Fahn S, Martinez-Martin P, et al; Movement Disorder Society UPDRS Revision Task Force: Movement disorder society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): scale presentation and clinimetric testing results. Mov Disord 2008; 15: 2129-2170.
-
(2008)
Mov Disord
, vol.15
, pp. 2129-2170
-
-
Goetz, C.G.1
Tilley, B.C.2
Shaftman, S.R.3
Stebbins, G.T.4
Fahn, S.5
Martinez-Martin, P.6
Et, A.L.7
-
12
-
-
43549092396
-
Development and validation of the Munich Parasomnia Screening (MUPS)
-
Fulda S, Hornyak M, Muller K, Cerny L, Beitinger P, Wetter T: Development and validation of the Munich Parasomnia Screening (MUPS). Somnologie 2008; 12: 56-65.
-
(2008)
Somnologie
, vol.12
, pp. 56-65
-
-
Fulda, S.1
Hornyak, M.2
Muller, K.3
Cerny, L.4
Beitinger, P.5
Wetter, T.6
-
13
-
-
0026514953
-
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases
-
Hughes AJ, Daniel SE, Kilford L, Lees AJ: Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181-184.
-
(1992)
J Neurol Neurosurg Psychiatry
, vol.55
, pp. 181-184
-
-
Hughes, A.J.1
Daniel, S.E.2
Kilford, L.3
Lees, A.J.4
-
14
-
-
84932136637
-
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher registry
-
Grabowski GA, Zimran A, Ida H: Gaucher disease types 1 and 3: phenotypic characterization of large populations from the ICGG Gaucher registry. Am J Hematol 2015; 90(suppl 1):S12-S18.
-
(2015)
Am J Hematol
, vol.90
, pp. S12-S18
-
-
Grabowski, G.A.1
Zimran, A.2
Ida, H.3
-
15
-
-
85050577476
-
Clinical studies of GBA1-associated Parkinsonism: Progress and challenges
-
Lopez G, Monestime G, Sidransky E: Clinical studies of GBA1-associated Parkinsonism: progress and challenges. Neurodegener Dis Manag 2016; 6: 1-4.
-
(2016)
Neurodegener Dis Manag
, vol.6
, pp. 1-4
-
-
Lopez, G.1
Monestime, G.2
Sidransky, E.3
-
16
-
-
84986892467
-
Clinical course and prognosis in patients with Gaucher disease and Parkinsonism
-
Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N, et al: Clinical course and prognosis in patients with Gaucher disease and Parkinsonism. Neurol Genet 2016; 2:e57.
-
(2016)
Neurol Genet
, vol.2
, pp. e57
-
-
Lopez, G.1
Kim, J.2
Wiggs, E.3
Cintron, D.4
Groden, C.5
Tayebi, N.6
Et, A.L.7
-
17
-
-
84899819100
-
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
-
McNeill A, Magalhaes J, Shen C, Chau KY, Hughes D, Mehta A, Foltynie T, Cooper JM, Abramov AY, Gegg M, Schapira AH: Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain 2014; 137(pt 5):1481-1495.
-
(2014)
Brain
, vol.137
, pp. 1481-1495
-
-
McNeill, A.1
Magalhaes, J.2
Shen, C.3
Chau, K.Y.4
Hughes, D.5
Mehta, A.6
Foltynie, T.7
Cooper, J.M.8
Abramov, A.Y.9
Gegg, M.10
Schapira, A.H.11
|