-
1
-
-
0038147327
-
Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders
-
Litvan I, Bhatia KP, Burn DJ, et al. Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord 2003;18:467-486.
-
(2003)
Mov Disord
, vol.18
, pp. 467-486
-
-
Litvan, I.1
Bhatia, K.P.2
Burn, D.J.3
-
2
-
-
0029967196
-
Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: a clinicopathological study
-
Litvan I, Mangone CA, McKee A, et al. Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: a clinicopathological study. J Neurol Neurosurg Psychiatry 1996;60:615-620.
-
(1996)
J Neurol Neurosurg Psychiatry
, vol.60
, pp. 615-620
-
-
Litvan, I.1
Mangone, C.A.2
McKee, A.3
-
3
-
-
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
-
4
-
-
77954362718
-
Does corticobasal degeneration exist? A clinicopathological re-evaluation
-
Ling H, O'Sullivan SS, Holton JL, et al. Does corticobasal degeneration exist? A clinicopathological re-evaluation. Brain 2010;133(Pt 7):2045-2057.
-
(2010)
Brain
, vol.133
, Issue.PART 7
, pp. 2045-2057
-
-
Ling, H.1
O'Sullivan, S.S.2
Holton, J.L.3
-
5
-
-
54849425351
-
Multiple system atrophy: a primary oligodendrogliopathy
-
Wenning GK, Stefanova N, Jellinger KA, Poewe W, Schlossmacher MG. Multiple system atrophy: a primary oligodendrogliopathy. Ann Neurol 2008;64:239-246.
-
(2008)
Ann Neurol
, vol.64
, pp. 239-246
-
-
Wenning, G.K.1
Stefanova, N.2
Jellinger, K.A.3
Poewe, W.4
Schlossmacher, M.G.5
-
6
-
-
60249088182
-
Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges
-
Williams DR, Lees AJ. Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges. Lancet Neurol 2009;8:270-279.
-
(2009)
Lancet Neurol
, vol.8
, pp. 270-279
-
-
Williams, D.R.1
Lees, A.J.2
-
7
-
-
20444436764
-
Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism
-
Williams DR, de Silva R, Paviour DC, et al. Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism. Brain 2005;128(Pt 6):1247-1258.
-
(2005)
Brain
, vol.128
, Issue.PART 6
, pp. 1247-1258
-
-
Williams, D.R.1
de Silva, R.2
Paviour, D.C.3
-
8
-
-
0028942610
-
Clinicopathological study of 35 cases of multiple system atrophy
-
Wenning GK, Ben-Shlomo Y, Magalhaes M, Daniel SE, Quinn NP. Clinicopathological study of 35 cases of multiple system atrophy. J Neurol Neurosurg Psychiatry 1995;58:160-166.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.58
, pp. 160-166
-
-
Wenning, G.K.1
Ben-Shlomo, Y.2
Magalhaes, M.3
Daniel, S.E.4
Quinn, N.P.5
-
9
-
-
0032827163
-
Time course of symptomatic orthostatic hypotension and urinary incontinence in patients with postmortem confirmed parkinsonian syndromes: a clinicopathological study
-
Wenning GK, Scherfler C, Granata R, et al. Time course of symptomatic orthostatic hypotension and urinary incontinence in patients with postmortem confirmed parkinsonian syndromes: a clinicopathological study. J Neurol Neurosurg Psychiatry 1999;67:620-623.
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.67
, pp. 620-623
-
-
Wenning, G.K.1
Scherfler, C.2
Granata, R.3
-
10
-
-
0030986997
-
Multiple system atrophy: a review of 203 pathologically proven cases
-
Wenning GK, Tison F, Ben Shlomo Y, Daniel SE, Quinn NP. Multiple system atrophy: a review of 203 pathologically proven cases. Mov Disord 1997;12:133-147.
-
(1997)
Mov Disord
, vol.12
, pp. 133-147
-
-
Wenning, G.K.1
Tison, F.2
Ben Shlomo, Y.3
Daniel, S.E.4
Quinn, N.P.5
-
11
-
-
84876332892
-
The natural history of multiple system atrophy: a prospective European cohort study
-
Wenning GK, Geser F, Krismer F, et al. The natural history of multiple system atrophy: a prospective European cohort study. Lancet Neurol 2013;12:264-274.
-
(2013)
Lancet Neurol
, vol.12
, pp. 264-274
-
-
Wenning, G.K.1
Geser, F.2
Krismer, F.3
-
12
-
-
80052271651
-
Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation
-
Tremolizzo L, Bertola F, Casati G, Piperno A, Ferrarese C, Appollonio I. Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation. Mov Disord 2011;26:1964-1966.
-
(2011)
Mov Disord
, vol.26
, pp. 1964-1966
-
-
Tremolizzo, L.1
Bertola, F.2
Casati, G.3
Piperno, A.4
Ferrarese, C.5
Appollonio, I.6
-
13
-
-
84874019770
-
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
-
Lindquist S, Duno M, Batbayli M, et al. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 2013;83:279-283.
-
(2013)
Clin Genet
, vol.83
, pp. 279-283
-
-
Lindquist, S.1
Duno, M.2
Batbayli, M.3
-
14
-
-
84863999288
-
C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism
-
O'Dowd S, Curtin D, Waite AJ, et al. C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism. Mov Disord 2012;27:1072-1074.
-
(2012)
Mov Disord
, vol.27
, pp. 1072-1074
-
-
O'Dowd, S.1
Curtin, D.2
Waite, A.J.3
-
15
-
-
0028298816
-
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome
-
Najim al-Din AS, Wriekat A, Mubaidin A, Dasouki M, Hiari M. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol Scand 1994;89:347-352.
-
(1994)
Acta Neurol Scand
, vol.89
, pp. 347-352
-
-
Najim al-Din, A.S.1
Wriekat, A.2
Mubaidin, A.3
Dasouki, M.4
Hiari, M.5
-
16
-
-
77951841861
-
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure
-
Newsway V, Fish M, Rohrer JD, et al. Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Mov Disord 2010;25:767-770.
-
(2010)
Mov Disord
, vol.25
, pp. 767-770
-
-
Newsway, V.1
Fish, M.2
Rohrer, J.D.3
-
17
-
-
77952973586
-
Rational therapeutic approaches to progressive supranuclear palsy
-
Stamelou M, de Silva R, Arias-Carrion O, et al. Rational therapeutic approaches to progressive supranuclear palsy. Brain 2010;133(Pt 6):1578-1590.
-
(2010)
Brain
, vol.133
, Issue.PART 6
, pp. 1578-1590
-
-
Stamelou, M.1
de Silva, R.2
Arias-Carrion, O.3
-
18
-
-
77953512439
-
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
-
Paisan-Ruiz C, Guevara R, Federoff M, et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord 2010;25:1791-1800.
-
(2010)
Mov Disord
, vol.25
, pp. 1791-1800
-
-
Paisan-Ruiz, C.1
Guevara, R.2
Federoff, M.3
-
19
-
-
84855962257
-
Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations
-
Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord 2012;27:42-53.
-
(2012)
Mov Disord
, vol.27
, pp. 42-53
-
-
Schneider, S.A.1
Hardy, J.2
Bhatia, K.P.3
-
20
-
-
70450194705
-
Hereditary parkinsonism: Parkinson disease look-alikes-an algorithm for clinicians to "PARK" genes and beyond
-
Klein C, Schneider SA, Lang AE. Hereditary parkinsonism: Parkinson disease look-alikes-an algorithm for clinicians to "PARK" genes and beyond. Mov Disord 2009;24:2042-2058.
-
(2009)
Mov Disord
, vol.24
, pp. 2042-2058
-
-
Klein, C.1
Schneider, S.A.2
Lang, A.E.3
-
21
-
-
67651156095
-
Complicated recessive dystonia parkinsonism syndromes
-
Schneider SA, Bhatia KP, Hardy J. Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009;24:490-499.
-
(2009)
Mov Disord
, vol.24
, pp. 490-499
-
-
Schneider, S.A.1
Bhatia, K.P.2
Hardy, J.3
-
23
-
-
84859026018
-
Improving the diagnostic accuracy in parkinsonism: a three-pronged approach
-
Aerts MB, Esselink RA, Post B, van de Warrenburg BP, Bloem BR. Improving the diagnostic accuracy in parkinsonism: a three-pronged approach. Pract Neurol 2012;12:77-87.
-
(2012)
Pract Neurol
, vol.12
, pp. 77-87
-
-
Aerts, M.B.1
Esselink, R.A.2
Post, B.3
van de Warrenburg, B.P.4
Bloem, B.R.5
-
24
-
-
33645729013
-
Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP
-
Josephs KA, Petersen RC, Knopman DS, et al. Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. Neurology 2006;66:41-48.
-
(2006)
Neurology
, vol.66
, pp. 41-48
-
-
Josephs, K.A.1
Petersen, R.C.2
Knopman, D.S.3
-
26
-
-
0037465718
-
Clinical features and natural history of progressive supranuclear palsy: a clinical cohort study
-
Nath U, Ben-Shlomo Y, Thomson RG, Lees AJ, Burn DJ. Clinical features and natural history of progressive supranuclear palsy: a clinical cohort study. Neurology 2003;60:910-916.
-
(2003)
Neurology
, vol.60
, pp. 910-916
-
-
Nath, U.1
Ben-Shlomo, Y.2
Thomson, R.G.3
Lees, A.J.4
Burn, D.J.5
-
27
-
-
24944566320
-
Natural history of progressive supranuclear palsy: a clinicopathologic study from a population of brain donors
-
Papapetropoulos S, Gonzalez J, Mash DC. Natural history of progressive supranuclear palsy: a clinicopathologic study from a population of brain donors. Eur Neurol 2005;54:1-9.
-
(2005)
Eur Neurol
, vol.54
, pp. 1-9
-
-
Papapetropoulos, S.1
Gonzalez, J.2
Mash, D.C.3
-
28
-
-
80051535251
-
Clinicopathological correlations in corticobasal degeneration
-
Lee SE, Rabinovici GD, Mayo MC, et al. Clinicopathological correlations in corticobasal degeneration. Ann Neurol 2011;70:327-340.
-
(2011)
Ann Neurol
, vol.70
, pp. 327-340
-
-
Lee, S.E.1
Rabinovici, G.D.2
Mayo, M.C.3
-
29
-
-
84861717261
-
Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases
-
Stamelou M, Alonso-Canovas A, Bhatia KP. Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases. Mov Disord 2012;27:696-702.
-
(2012)
Mov Disord
, vol.27
, pp. 696-702
-
-
Stamelou, M.1
Alonso-Canovas, A.2
Bhatia, K.P.3
-
30
-
-
61849183707
-
How do patients with parkinsonism present? A clinicopathological study
-
Williams DR, Lees AJ. How do patients with parkinsonism present? A clinicopathological study. Intern Med J 2009;39:7-12.
-
(2009)
Intern Med J
, vol.39
, pp. 7-12
-
-
Williams, D.R.1
Lees, A.J.2
-
31
-
-
84873639356
-
Criteria for the diagnosis of corticobasal degeneration
-
Armstrong MJ, Litvan I, Lang AE, et al. Criteria for the diagnosis of corticobasal degeneration. Neurology 2013;80:496-503.
-
(2013)
Neurology
, vol.80
, pp. 496-503
-
-
Armstrong, M.J.1
Litvan, I.2
Lang, A.E.3
-
32
-
-
80855162337
-
Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome
-
Kouri N, Murray ME, Hassan A, et al. Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. Brain 2011;134(Pt 11):3264-3275.
-
(2011)
Brain
, vol.134
, Issue.PART 11
, pp. 3264-3275
-
-
Kouri, N.1
Murray, M.E.2
Hassan, A.3
-
33
-
-
79955076348
-
Hypodipsia discriminates progressive supranuclear palsy from other parkinsonian syndromes
-
Stamelou M, Christ H, Reuss A, Oertel W, Hoglinger G. Hypodipsia discriminates progressive supranuclear palsy from other parkinsonian syndromes. Mov Disord 2011;26:901-905.
-
(2011)
Mov Disord
, vol.26
, pp. 901-905
-
-
Stamelou, M.1
Christ, H.2
Reuss, A.3
Oertel, W.4
Hoglinger, G.5
-
34
-
-
84860176025
-
Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's disease
-
Ling H, Massey LA, Lees AJ, Brown P, Day BL. Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's disease. Brain 2012;135(Pt 4):1141-1153.
-
(2012)
Brain
, vol.135
, Issue.PART 4
, pp. 1141-1153
-
-
Ling, H.1
Massey, L.A.2
Lees, A.J.3
Brown, P.4
Day, B.L.5
-
35
-
-
84871768775
-
Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy
-
Massey LA, Micallef C, Paviour DC, et al. Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy. Mov Disord 2012;27:1754-1762.
-
(2012)
Mov Disord
, vol.27
, pp. 1754-1762
-
-
Massey, L.A.1
Micallef, C.2
Paviour, D.C.3
-
36
-
-
77649138106
-
What features improve the accuracy of the clinical diagnosis of progressive supranuclear palsy-parkinsonism (PSP-P)?
-
Williams DR, Lees AJ. What features improve the accuracy of the clinical diagnosis of progressive supranuclear palsy-parkinsonism (PSP-P)? Mov Disord 2010;25:357-362.
-
(2010)
Mov Disord
, vol.25
, pp. 357-362
-
-
Williams, D.R.1
Lees, A.J.2
-
37
-
-
84877630721
-
The differential diagnosis of Huntington's disease-like syndromes: "red flags" for the clinician
-
[Epub Sep 19. DOI:10.1136/jnnp-2012-302532].
-
Martino D, Stamelou M, Bhatia KP. The differential diagnosis of Huntington's disease-like syndromes: "red flags" for the clinician. J Neurol Neurosurg Psychiatry (in press) [Epub 2012 Sep 19. DOI:10.1136/jnnp-2012-302532].
-
(2012)
J Neurol Neurosurg Psychiatry
-
-
Martino, D.1
Stamelou, M.2
Bhatia, K.P.3
-
38
-
-
0033910741
-
Neurosyphilis presenting as progressive supranuclear palsy
-
Murialdo A, Marchese R, Abbruzzese G, Tabaton M, Michelozzi G, Schiavoni S. Neurosyphilis presenting as progressive supranuclear palsy. Mov Disord 2000;15:730-731.
-
(2000)
Mov Disord
, vol.15
, pp. 730-731
-
-
Murialdo, A.1
Marchese, R.2
Abbruzzese, G.3
Tabaton, M.4
Michelozzi, G.5
Schiavoni, S.6
-
40
-
-
80855123673
-
Parkinsonism and frontotemporal dementia: the clinical overlap
-
Espay AJ, Litvan I. Parkinsonism and frontotemporal dementia: the clinical overlap. J Mol Neurosci 2011;45:343-349.
-
(2011)
J Mol Neurosci
, vol.45
, pp. 343-349
-
-
Espay, A.J.1
Litvan, I.2
-
41
-
-
81855185515
-
Phenotypic signatures of genetic frontotemporal dementia
-
Rohrer JD, Warren JD. Phenotypic signatures of genetic frontotemporal dementia. Curr Opin Neurol 2011;24:542-549.
-
(2011)
Curr Opin Neurol
, vol.24
, pp. 542-549
-
-
Rohrer, J.D.1
Warren, J.D.2
-
42
-
-
0038353463
-
Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP
-
Morris HR, Osaki Y, Holton J, et al. Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP. Neurology 2003;61:102-104.
-
(2003)
Neurology
, vol.61
, pp. 102-104
-
-
Morris, H.R.1
Osaki, Y.2
Holton, J.3
-
43
-
-
79951493266
-
An algorithm for genetic testing of frontotemporal lobar degeneration
-
Goldman JS, Rademakers R, Huey ED, et al. An algorithm for genetic testing of frontotemporal lobar degeneration. Neurology 2011;76:475-483.
-
(2011)
Neurology
, vol.76
, pp. 475-483
-
-
Goldman, J.S.1
Rademakers, R.2
Huey, E.D.3
-
44
-
-
0034093228
-
Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations
-
Stanford PM, Halliday GM, Brooks WS, et al. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 2000;123(Pt 5):880-893.
-
(2000)
Brain
, vol.123
, Issue.PART 5
, pp. 880-893
-
-
Stanford, P.M.1
Halliday, G.M.2
Brooks, W.S.3
-
45
-
-
0035134195
-
Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene
-
Pastor P, Pastor E, Carnero C, et al. Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Ann Neurol 2001;49:263-267.
-
(2001)
Ann Neurol
, vol.49
, pp. 263-267
-
-
Pastor, P.1
Pastor, E.2
Carnero, C.3
-
46
-
-
0036771837
-
An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype
-
Poorkaj P, Muma NA, Zhukareva V, et al. An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Ann Neurol 2002;52:511-516.
-
(2002)
Ann Neurol
, vol.52
, pp. 511-516
-
-
Poorkaj, P.1
Muma, N.A.2
Zhukareva, V.3
-
47
-
-
10744228528
-
Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene
-
Rossi G, Gasparoli E, Pasquali C, et al. Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. Ann Neurol 2004;55:448.
-
(2004)
Ann Neurol
, vol.55
, pp. 448
-
-
Rossi, G.1
Gasparoli, E.2
Pasquali, C.3
-
48
-
-
25144460507
-
A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy
-
Ros R, Thobois S, Streichenberger N, et al. A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy. Arch Neurol 2005;62:1444-1450.
-
(2005)
Arch Neurol
, vol.62
, pp. 1444-1450
-
-
Ros, R.1
Thobois, S.2
Streichenberger, N.3
-
49
-
-
0033059975
-
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau
-
Bugiani O, Murrell JR, Giaccone G, et al. Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J Neuropathol Exp Neurol 1999;58:667-677.
-
(1999)
J Neuropathol Exp Neurol
, vol.58
, pp. 667-677
-
-
Bugiani, O.1
Murrell, J.R.2
Giaccone, G.3
-
50
-
-
29144449788
-
Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability
-
Casseron W, Azulay JP, Guedj E, Gastaut JL, Pouget J. Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability. J Neurol 2005;252:1546-1548.
-
(2005)
J Neurol
, vol.252
, pp. 1546-1548
-
-
Casseron, W.1
Azulay, J.P.2
Guedj, E.3
Gastaut, J.L.4
Pouget, J.5
-
51
-
-
33847194237
-
Hereditary frontotemporal dementia caused by Tau gene mutations
-
van Swieten J, Spillantini MG. Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathol 2007;17:63-73.
-
(2007)
Brain Pathol
, vol.17
, pp. 63-73
-
-
van Swieten, J.1
Spillantini, M.G.2
-
52
-
-
52449099214
-
The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome
-
Rossi G, Marelli C, Farina L, et al. The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome. Mov Disord 2008;23:892-895.
-
(2008)
Mov Disord
, vol.23
, pp. 892-895
-
-
Rossi, G.1
Marelli, C.2
Farina, L.3
-
54
-
-
79953879390
-
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration
-
Chen-Plotkin AS, Martinez-Lage M, Sleiman PM, et al. Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol 2011;68:488-497.
-
(2011)
Arch Neurol
, vol.68
, pp. 488-497
-
-
Chen-Plotkin, A.S.1
Martinez-Lage, M.2
Sleiman, P.M.3
-
55
-
-
77649192195
-
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration
-
Chen-Plotkin AS, Xiao J, Geser F, et al. Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. Acta Neuropathol 2010;119:111-122.
-
(2010)
Acta Neuropathol
, vol.119
, pp. 111-122
-
-
Chen-Plotkin, A.S.1
Xiao, J.2
Geser, F.3
-
56
-
-
64849103956
-
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
-
Finch N, Baker M, Crook R, et al. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain 2009;132(Pt 3):583-591.
-
(2009)
Brain
, vol.132
, Issue.PART 3
, pp. 583-591
-
-
Finch, N.1
Baker, M.2
Crook, R.3
-
58
-
-
42249085980
-
Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN)
-
Boeve BF, Hutton M. Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). Arch Neurol 2008;65:460-464.
-
(2008)
Arch Neurol
, vol.65
, pp. 460-464
-
-
Boeve, B.F.1
Hutton, M.2
-
59
-
-
84893829440
-
MAPT-related disorders
-
Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, Seattle, WA: University of Washington, Seattle; 1993- (first posted November 7, 2000; updated October 26, 2010). Available at: Accessed April 24
-
van Swieten JC, Rosso SM, Heutink P. MAPT-related disorders. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™. Seattle, WA: University of Washington, Seattle; 1993- (first posted November 7, 2000; updated October 26, 2010). Available at: http://www.ncbi.nlm.nih.gov/books/NBK1505/. Accessed April 24, 2013.
-
(2013)
GeneReviews™
-
-
van Swieten, J.C.1
Rosso, S.M.2
Heutink, P.3
-
60
-
-
67649103652
-
Pattern of behavioral disturbances in corticobasal degeneration syndrome and progressive supranuclear palsy
-
Borroni B, Alberici A, Agosti C, Cosseddu M, Padovani A. Pattern of behavioral disturbances in corticobasal degeneration syndrome and progressive supranuclear palsy. Int Psychogeriatr 2009;21:463-468.
-
(2009)
Int Psychogeriatr
, vol.21
, pp. 463-468
-
-
Borroni, B.1
Alberici, A.2
Agosti, C.3
Cosseddu, M.4
Padovani, A.5
-
61
-
-
34548140123
-
Frontal presentation in progressive supranuclear palsy
-
Donker Kaat L, Boon AJ, Kamphorst W, Ravid R, Duivenvoorden HJ, van Swieten JC. Frontal presentation in progressive supranuclear palsy. Neurology 2007;69:723-729.
-
(2007)
Neurology
, vol.69
, pp. 723-729
-
-
Donker Kaat, L.1
Boon, A.J.2
Kamphorst, W.3
Ravid, R.4
Duivenvoorden, H.J.5
van Swieten, J.C.6
-
62
-
-
74149085458
-
Behavior and cognition in corticobasal degeneration and progressive supranuclear palsy
-
Kertesz A, McMonagle P. Behavior and cognition in corticobasal degeneration and progressive supranuclear palsy. J Neurol Sci 2010;289(1-2):138-143.
-
(2010)
J Neurol Sci
, vol.289
, Issue.1-2
, pp. 138-143
-
-
Kertesz, A.1
McMonagle, P.2
-
63
-
-
77955064399
-
In vivo demonstration of microstructural brain pathology in progressive supranuclear palsy: a DTI study using TBSS
-
Knake S, Belke M, Menzler K, et al. In vivo demonstration of microstructural brain pathology in progressive supranuclear palsy: a DTI study using TBSS. Mov Disord 2010;25:1232-1238.
-
(2010)
Mov Disord
, vol.25
, pp. 1232-1238
-
-
Knake, S.1
Belke, M.2
Menzler, K.3
-
64
-
-
79953832904
-
Magnetic resonance imaging in progressive supranuclear palsy
-
Stamelou M, Knake S, Oertel WH, Hoglinger GU. Magnetic resonance imaging in progressive supranuclear palsy. J Neurol 2011;258:549-558.
-
(2011)
J Neurol
, vol.258
, pp. 549-558
-
-
Stamelou, M.1
Knake, S.2
Oertel, W.H.3
Hoglinger, G.U.4
-
65
-
-
39749141572
-
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series
-
Beck J, Rohrer JD, Campbell T, et al. A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain 2008;131(Pt 3):706-720.
-
(2008)
Brain
, vol.131
, Issue.PART 3
, pp. 706-720
-
-
Beck, J.1
Rohrer, J.D.2
Campbell, T.3
-
66
-
-
76149123541
-
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration
-
Yu CE, Bird TD, Bekris LM, et al. The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol 2010;67:161-170.
-
(2010)
Arch Neurol
, vol.67
, pp. 161-170
-
-
Yu, C.E.1
Bird, T.D.2
Bekris, L.M.3
-
67
-
-
79953883507
-
Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review
-
Seelaar H, Rohrer JD, Pijnenburg YA, Fox NC, van Swieten JC. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry 2011;82:476-486.
-
(2011)
J Neurol Neurosurg Psychiatry
, vol.82
, pp. 476-486
-
-
Seelaar, H.1
Rohrer, J.D.2
Pijnenburg, Y.A.3
Fox, N.C.4
van Swieten, J.C.5
-
68
-
-
84857588946
-
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
-
Whitwell JL, Weigand SD, Boeve BF, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain 2012;135(Pt 3):794-806.
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 794-806
-
-
Whitwell, J.L.1
Weigand, S.D.2
Boeve, B.F.3
-
69
-
-
84858620858
-
C9orf72 repeat expansions in patients with ALS and FTD
-
Rademakers R. C9orf72 repeat expansions in patients with ALS and FTD. Lancet Neurol 2012;11:297-298.
-
(2012)
Lancet Neurol
, vol.11
, pp. 297-298
-
-
Rademakers, R.1
-
70
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
-
Majounie E, Renton AE, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012;11:323-330.
-
(2012)
Lancet Neurol
, vol.11
, pp. 323-330
-
-
Majounie, E.1
Renton, A.E.2
Mok, K.3
-
71
-
-
84857517997
-
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
-
Mahoney CJ, Beck J, Rohrer JD, et al. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain 2012;135(Pt 3):736-750.
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 736-750
-
-
Mahoney, C.J.1
Beck, J.2
Rohrer, J.D.3
-
72
-
-
84863393788
-
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
-
Boeve BF, Boylan KB, Graff-Radford NR, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 2012;135(Pt 3):765-783.
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 765-783
-
-
Boeve, B.F.1
Boylan, K.B.2
Graff-Radford, N.R.3
-
73
-
-
84857522741
-
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
-
Chio A, Borghero G, Restagno G, et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 2012;135(Pt 3):784-793.
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 784-793
-
-
Chio, A.1
Borghero, G.2
Restagno, G.3
-
74
-
-
84857054634
-
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
-
Cooper-Knock J, Hewitt C, Highley JR, et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 2012;135(Pt 3):751-764.
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 751-764
-
-
Cooper-Knock, J.1
Hewitt, C.2
Highley, J.R.3
-
75
-
-
84857612209
-
Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat
-
Hodges J. Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat. Brain 2012;135(Pt 3):652-655.
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 652-655
-
-
Hodges, J.1
-
76
-
-
67649470543
-
Characterization of DCTN1 genetic variability in neurodegeneration
-
Vilarino-Guell C, Wider C, Soto-Ortolaza AI, et al. Characterization of DCTN1 genetic variability in neurodegeneration. Neurology 2009;72:2024-2028.
-
(2009)
Neurology
, vol.72
, pp. 2024-2028
-
-
Vilarino-Guell, C.1
Wider, C.2
Soto-Ortolaza, A.I.3
-
77
-
-
74149090119
-
Elucidating the genetics and pathology of Perry syndrome
-
Wider C, Dachsel JC, Farrer MJ, Dickson DW, Tsuboi Y, Wszolek ZK. Elucidating the genetics and pathology of Perry syndrome. J Neurol Sci 2010;289(1-2):149-154.
-
(2010)
J Neurol Sci
, vol.289
, Issue.1-2
, pp. 149-154
-
-
Wider, C.1
Dachsel, J.C.2
Farrer, M.J.3
Dickson, D.W.4
Tsuboi, Y.5
Wszolek, Z.K.6
-
79
-
-
0016611811
-
Hereditary mental depression and Parkinsonism with taurine deficiency
-
Perry TL, Bratty PJ, Hansen S, Kennedy J, Urquhart N, Dolman CL. Hereditary mental depression and Parkinsonism with taurine deficiency. Arch Neurol 1975;32:108-113.
-
(1975)
Arch Neurol
, vol.32
, pp. 108-113
-
-
Perry, T.L.1
Bratty, P.J.2
Hansen, S.3
Kennedy, J.4
Urquhart, N.5
Dolman, C.L.6
-
80
-
-
0025607841
-
Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases
-
Perry TL, Wright JM, Berry K, Hansen S, Perry TL Jr. Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases. Neurology 1990;40:1882-1887.
-
(1990)
Neurology
, vol.40
, pp. 1882-1887
-
-
Perry, T.L.1
Wright, J.M.2
Berry, K.3
Hansen, S.4
Perry Jr., T.L.5
-
81
-
-
0018583305
-
Familial fatal Parkinsonism with alveolar hypoventilation and mental depression
-
Purdy A, Hahn A, Barnett HJ, et al. Familial fatal Parkinsonism with alveolar hypoventilation and mental depression. Ann Neurol 1979;6:523-531.
-
(1979)
Ann Neurol
, vol.6
, pp. 523-531
-
-
Purdy, A.1
Hahn, A.2
Barnett, H.J.3
-
82
-
-
38149021478
-
Neurodegeneration involving putative respiratory neurons in Perry syndrome
-
Tsuboi Y, Dickson DW, Nabeshima K, et al. Neurodegeneration involving putative respiratory neurons in Perry syndrome. Acta Neuropathol 2008;115:263-268.
-
(2008)
Acta Neuropathol
, vol.115
, pp. 263-268
-
-
Tsuboi, Y.1
Dickson, D.W.2
Nabeshima, K.3
-
83
-
-
0026599414
-
[Familial parkinsonian syndrome with athymhormia and hypoventilation]
-
Paris. [French].
-
Lechevalier B, Schupp C, Fallet-Bianco C, et al. [Familial parkinsonian syndrome with athymhormia and hypoventilation]. Rev Neurol (Paris) 1992;148:39-46. [French].
-
(1992)
Rev Neurol
, vol.148
, pp. 39-46
-
-
Lechevalier, B.1
Schupp, C.2
Fallet-Bianco, C.3
-
84
-
-
0027491501
-
Familial parkinsonism with depression: a clinicopathological study
-
Bhatia KP, Daniel SE, Marsden CD. Familial parkinsonism with depression: a clinicopathological study. Ann Neurol 1993;34:842-847.
-
(1993)
Ann Neurol
, vol.34
, pp. 842-847
-
-
Bhatia, K.P.1
Daniel, S.E.2
Marsden, C.D.3
-
86
-
-
38349106754
-
Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)-a literature review
-
Wider C, Wszolek ZK. Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)-a literature review. Parkinsonism Relat Disord 2008;14:1-7.
-
(2008)
Parkinsonism Relat Disord
, vol.14
, pp. 1-7
-
-
Wider, C.1
Wszolek, Z.K.2
-
87
-
-
77956853710
-
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations
-
Behrens MI, Bruggemann N, Chana P, et al. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord 2010;25:1929-1937.
-
(2010)
Mov Disord
, vol.25
, pp. 1929-1937
-
-
Behrens, M.I.1
Bruggemann, N.2
Chana, P.3
-
88
-
-
84862332594
-
Syndromes of neurodegeneration with brain iron accumulation
-
Schneider SA, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation. Semin Pediatr Neurol 2012;19:57-66.
-
(2012)
Semin Pediatr Neurol
, vol.19
, pp. 57-66
-
-
Schneider, S.A.1
Bhatia, K.P.2
-
89
-
-
84861723960
-
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
-
Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet 2012;21:2646-2650.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 2646-2650
-
-
Bras, J.1
Verloes, A.2
Schneider, S.A.3
Mole, S.E.4
Guerreiro, R.J.5
-
90
-
-
27844571985
-
Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia
-
Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord 2005;20:1264-1271.
-
(2005)
Mov Disord
, vol.20
, pp. 1264-1271
-
-
Williams, D.R.1
Hadeed, A.2
al-Din, A.S.3
Wreikat, A.L.4
Lees, A.J.5
-
91
-
-
78349233855
-
Eye movement disorders in ATP13A2 mutation carriers (PARK9)
-
Machner B, Sprenger A, Behrens MI, et al. Eye movement disorders in ATP13A2 mutation carriers (PARK9). Mov Disord 2010;25:2687-2689.
-
(2010)
Mov Disord
, vol.25
, pp. 2687-2689
-
-
Machner, B.1
Sprenger, A.2
Behrens, M.I.3
-
92
-
-
70450161985
-
ATP13A2 variants in early-onset Parkinson's disease patients and controls
-
Djarmati A, Hagenah J, Reetz K, et al. ATP13A2 variants in early-onset Parkinson's disease patients and controls. Mov Disord 2009;24:2104-2111.
-
(2009)
Mov Disord
, vol.24
, pp. 2104-2111
-
-
Djarmati, A.1
Hagenah, J.2
Reetz, K.3
-
93
-
-
33749133430
-
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
-
Ramirez A, Heimbach A, Grundemann J, et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 2006;38:1184-1191.
-
(2006)
Nat Genet
, vol.38
, pp. 1184-1191
-
-
Ramirez, A.1
Heimbach, A.2
Grundemann, J.3
-
94
-
-
79960836347
-
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
-
Park JS, Mehta P, Cooper AA, et al. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. Hum Mutat 2011;32:956-964.
-
(2011)
Hum Mutat
, vol.32
, pp. 956-964
-
-
Park, J.S.1
Mehta, P.2
Cooper, A.A.3
-
95
-
-
77953338445
-
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
-
Schneider SA, Paisan-Ruiz C, Quinn NP, et al. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord 2010;25:979-984.
-
(2010)
Mov Disord
, vol.25
, pp. 979-984
-
-
Schneider, S.A.1
Paisan-Ruiz, C.2
Quinn, N.P.3
-
96
-
-
42949158787
-
* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
-
* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 2008;70:1614-1619.
-
(2008)
Neurology
, vol.70
, pp. 1614-1619
-
-
McNeill, A.1
Birchall, D.2
Hayflick, S.J.3
-
97
-
-
84858285794
-
Brain iron deposition fingerprints in Parkinson's disease and progressive supranuclear palsy
-
Boelmans K, Holst B, Hackius M, et al. Brain iron deposition fingerprints in Parkinson's disease and progressive supranuclear palsy. Mov Disord 2012;27:421-427.
-
(2012)
Mov Disord
, vol.27
, pp. 421-427
-
-
Boelmans, K.1
Holst, B.2
Hackius, M.3
-
98
-
-
84863146124
-
Different iron-deposition patterns of multiple system atrophy with predominant parkinsonism and idiopathetic Parkinson diseases demonstrated by phase-corrected susceptibility-weighted imaging
-
Wang Y, Butros SR, Shuai X, et al. Different iron-deposition patterns of multiple system atrophy with predominant parkinsonism and idiopathetic Parkinson diseases demonstrated by phase-corrected susceptibility-weighted imaging. AJNR Am J Neuroradiol 2012;33:266-273.
-
(2012)
AJNR Am J Neuroradiol
, vol.33
, pp. 266-273
-
-
Wang, Y.1
Butros, S.R.2
Shuai, X.3
-
99
-
-
67650345396
-
Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits
-
Abel LA, Walterfang M, Fietz M, Bowman EA, Velakoulis D. Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits. Neurology 2009;72:1083-1086.
-
(2009)
Neurology
, vol.72
, pp. 1083-1086
-
-
Abel, L.A.1
Walterfang, M.2
Fietz, M.3
Bowman, E.A.4
Velakoulis, D.5
-
100
-
-
33845910402
-
The adult form of Niemann-Pick disease type C
-
Sevin M, Lesca G, Baumann N, et al. The adult form of Niemann-Pick disease type C. Brain 2007;130(Pt 1):120-133.
-
(2007)
Brain
, vol.130
, Issue.PART 1
, pp. 120-133
-
-
Sevin, M.1
Lesca, G.2
Baumann, N.3
-
101
-
-
70349742377
-
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
-
Wraith JE, Guffon N, Rohrbach M, et al. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab 2009;98:250-254.
-
(2009)
Mol Genet Metab
, vol.98
, pp. 250-254
-
-
Wraith, J.E.1
Guffon, N.2
Rohrbach, M.3
-
102
-
-
67849098806
-
Recommendations on the diagnosis and management of Niemann-Pick disease type C
-
Wraith JE, Baumgartner MR, Bembi B, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009;98(1-2):152-165.
-
(2009)
Mol Genet Metab
, vol.98
, Issue.1-2
, pp. 152-165
-
-
Wraith, J.E.1
Baumgartner, M.R.2
Bembi, B.3
-
103
-
-
84862532953
-
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update
-
Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab 2012;106:330-344.
-
(2012)
Mol Genet Metab
, vol.106
, pp. 330-344
-
-
Patterson, M.C.1
Hendriksz, C.J.2
Walterfang, M.3
Sedel, F.4
Vanier, M.T.5
Wijburg, F.6
-
104
-
-
77649338413
-
Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial
-
Wraith JE, Vecchio D, Jacklin E, et al. Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab 2010;99:351-357.
-
(2010)
Mol Genet Metab
, vol.99
, pp. 351-357
-
-
Wraith, J.E.1
Vecchio, D.2
Jacklin, E.3
-
105
-
-
33846412228
-
The natural history of Niemann-Pick disease type C in the UK
-
Imrie J, Dasgupta S, Besley GT, et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis 2007;30:51-59.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 51-59
-
-
Imrie, J.1
Dasgupta, S.2
Besley, G.T.3
-
106
-
-
84863594896
-
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C
-
Wijburg FA, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78:1560-1567.
-
(2012)
Neurology
, vol.78
, pp. 1560-1567
-
-
Wijburg, F.A.1
Sedel, F.2
Pineda, M.3
-
107
-
-
84870601632
-
Saccadic eye movement characteristics in adult Niemann-Pick type C disease: relationships with disease severity and brain structural measures
-
Abel LA, Bowman EA, Velakoulis D, et al. Saccadic eye movement characteristics in adult Niemann-Pick type C disease: relationships with disease severity and brain structural measures. PLoS One 2012;7:e50947.
-
(2012)
PLoS One
, vol.7
-
-
Abel, L.A.1
Bowman, E.A.2
Velakoulis, D.3
-
108
-
-
84856859751
-
Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C
-
Walterfang M, Macfarlane MD, Looi JC, et al. Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C. Eur J Neurol 2012;19:462-467.
-
(2012)
Eur J Neurol
, vol.19
, pp. 462-467
-
-
Walterfang, M.1
Macfarlane, M.D.2
Looi, J.C.3
-
109
-
-
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
-
110
-
-
0038460778
-
Gaucher disease associated with parkinsonism: four further case reports
-
Varkonyi J, Rosenbaum H, Baumann N, et al. Gaucher disease associated with parkinsonism: four further case reports. Am J Med Genet A 2003;116A:348-351.
-
(2003)
Am J Med Genet A
, vol.116 A
, pp. 348-351
-
-
Varkonyi, J.1
Rosenbaum, H.2
Baumann, N.3
-
111
-
-
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
-
112
-
-
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
-
113
-
-
70249092205
-
Recommendations on diagnosis, treatment, and monitoring for Gaucher disease
-
Martins AM, Valadares ER, Porta G, et al. Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J Pediatr 2009;155(4 Suppl):S10-S18.
-
(2009)
J Pediatr
, vol.155
, Issue.4 SUPPL.
-
-
Martins, A.M.1
Valadares, E.R.2
Porta, G.3
-
115
-
-
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
-
116
-
-
79960611799
-
The saccadic and neurological deficits in type 3 Gaucher disease
-
Benko W, Ries M, Wiggs EA, Brady RO, Schiffmann R, Fitzgibbon EJ. The saccadic and neurological deficits in type 3 Gaucher disease. PLoS One 2011;6:e22410.
-
(2011)
PLoS One
, vol.6
-
-
Benko, W.1
Ries, M.2
Wiggs, E.A.3
Brady, R.O.4
Schiffmann, R.5
Fitzgibbon, E.J.6
-
117
-
-
17544391170
-
Longitudinal ocular motor study in corticobasal degeneration and progressive supranuclear palsy
-
Rivaud-Pechoux S, Vidailhet M, Gallouedec G, Litvan I, Gaymard B, Pierrot-Deseilligny C. Longitudinal ocular motor study in corticobasal degeneration and progressive supranuclear palsy. Neurology 2000;54:1029-1032.
-
(2000)
Neurology
, vol.54
, pp. 1029-1032
-
-
Rivaud-Pechoux, S.1
Vidailhet, M.2
Gallouedec, G.3
Litvan, I.4
Gaymard, B.5
Pierrot-Deseilligny, C.6
-
118
-
-
79951980150
-
Visual signs and symptoms of progressive supranuclear palsy
-
Armstrong RA. Visual signs and symptoms of progressive supranuclear palsy. Clin Exp Optom 2011;94:150-160.
-
(2011)
Clin Exp Optom
, vol.94
, pp. 150-160
-
-
Armstrong, R.A.1
-
119
-
-
12444296116
-
Tayebi N, Walker J, Stubblefield B, et al. 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
-
-
-
120
-
-
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
-
121
-
-
84859423454
-
Hyposmia and cognitive impairment in Gaucher disease patients and carriers
-
McNeill A, Duran R, Proukakis C, et al. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord 2012;27:526-532.
-
(2012)
Mov Disord
, vol.27
, pp. 526-532
-
-
McNeill, A.1
Duran, R.2
Proukakis, C.3
-
122
-
-
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
-
123
-
-
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
-
125
-
-
0028923339
-
Supranuclear eye movement dysfunction in mitochondrial myopathy with tRNA(LEU) mutation
-
Gupta SR, Brigell M, Gujrati M, Lee JM. Supranuclear eye movement dysfunction in mitochondrial myopathy with tRNA(LEU) mutation. J Neuroophthalmol 1995;15:20-25.
-
(1995)
J Neuroophthalmol
, vol.15
, pp. 20-25
-
-
Gupta, S.R.1
Brigell, M.2
Gujrati, M.3
Lee, J.M.4
-
126
-
-
0028292344
-
[Mitochondrial encephalomyopathy associated with parkinsonism and a point mutation in the mitochondrial tRNA(Leu)(UUR)) gene]
-
Hara K, Yamamoto M, Anegawa T, Sakuta R, Nakamura M. [Mitochondrial encephalomyopathy associated with parkinsonism and a point mutation in the mitochondrial tRNA(Leu)(UUR)) gene]. Rinsho Shinkeigaku 1994;34:361-365.
-
(1994)
Rinsho Shinkeigaku
, vol.34
, pp. 361-365
-
-
Hara, K.1
Yamamoto, M.2
Anegawa, T.3
Sakuta, R.4
Nakamura, M.5
-
127
-
-
34347211798
-
Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions
-
Wilcox RA, Churchyard A, Dahl HH, Hutchison WM, Kirby DM, Thyagarajan D. Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions. Mov Disord 2007;22:1020-1023.
-
(2007)
Mov Disord
, vol.22
, pp. 1020-1023
-
-
Wilcox, R.A.1
Churchyard, A.2
Dahl, H.H.3
Hutchison, W.M.4
Kirby, D.M.5
Thyagarajan, D.6
-
128
-
-
0026662717
-
Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy
-
Bertoni JM, Brown P, Goldfarb LG, Rubenstein R, Gajdusek DC. Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy. JAMA 1992;268:2413-2415.
-
(1992)
JAMA
, vol.268
, pp. 2413-2415
-
-
Bertoni, J.M.1
Brown, P.2
Goldfarb, L.G.3
Rubenstein, R.4
Gajdusek, D.C.5
-
130
-
-
0344837282
-
A unique case of sporadic Creutzfeldt-Jacob disease presenting as progressive supranuclear palsy
-
Shimamura M, Uyama E, Hirano T, et al. A unique case of sporadic Creutzfeldt-Jacob disease presenting as progressive supranuclear palsy. Intern Med 2003;42:195-198.
-
(2003)
Intern Med
, vol.42
, pp. 195-198
-
-
Shimamura, M.1
Uyama, E.2
Hirano, T.3
-
131
-
-
84859341110
-
Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy
-
Matej R, Kovacs GG, Johanidesova S, et al. Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy. Mov Disord 2012;27:476-479.
-
(2012)
Mov Disord
, vol.27
, pp. 476-479
-
-
Matej, R.1
Kovacs, G.G.2
Johanidesova, S.3
-
132
-
-
78651257339
-
Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy
-
Kovacs GG, Seguin J, Quadrio I, et al. Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. Acta Neuropathol 2011;121:39-57.
-
(2011)
Acta Neuropathol
, vol.121
, pp. 39-57
-
-
Kovacs, G.G.1
Seguin, J.2
Quadrio, I.3
-
133
-
-
34047199059
-
Novel prion protein gene mutation presenting with subacute PSP-like syndrome
-
Rowe DB, Lewis V, Needham M, et al. Novel prion protein gene mutation presenting with subacute PSP-like syndrome. Neurology 2007;68:868-870.
-
(2007)
Neurology
, vol.68
, pp. 868-870
-
-
Rowe, D.B.1
Lewis, V.2
Needham, M.3
-
134
-
-
84874285484
-
Magnetic resonance imaging in E200K and V210I mutations of the prion protein gene
-
Breithaupt M, Romero C, Kallenberg K, et al. Magnetic resonance imaging in E200K and V210I mutations of the prion protein gene. Alzheimer Dis Assoc Disord 2013;27:87-90.
-
(2013)
Alzheimer Dis Assoc Disord
, vol.27
, pp. 87-90
-
-
Breithaupt, M.1
Romero, C.2
Kallenberg, K.3
-
135
-
-
38949174973
-
A novel deletion in progranulin gene is associated with FTDP-17 and CBS
-
Benussi L, Binetti G, Sina E, et al. A novel deletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol Aging 2008;29:427-435.
-
(2008)
Neurobiol Aging
, vol.29
, pp. 427-435
-
-
Benussi, L.1
Binetti, G.2
Sina, E.3
-
136
-
-
60949099072
-
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide
-
Benussi L, Ghidoni R, Pegoiani E, Moretti DV, Zanetti O, Binetti G. Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. Neurobiol Dis 2009;33:379-385.
-
(2009)
Neurobiol Dis
, vol.33
, pp. 379-385
-
-
Benussi, L.1
Ghidoni, R.2
Pegoiani, E.3
Moretti, D.V.4
Zanetti, O.5
Binetti, G.6
-
137
-
-
33750576831
-
Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study
-
Boeve BF, Baker M, Dickson DW, et al. Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study. Brain 2006;129(Pt 11):3103-3114.
-
(2006)
Brain
, vol.129
, Issue.PART 11
, pp. 3103-3114
-
-
Boeve, B.F.1
Baker, M.2
Dickson, D.W.3
-
138
-
-
84860390154
-
Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation
-
Dopper EG, Seelaar H, Chiu WZ, et al. Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation. J Mol Neurosci 2011;45:354-358.
-
(2011)
J Mol Neurosci
, vol.45
, pp. 354-358
-
-
Dopper, E.G.1
Seelaar, H.2
Chiu, W.Z.3
-
139
-
-
51449107701
-
Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases
-
Guerreiro RJ, Santana I, Bras JM, et al. Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases. Mov Disord 2008;23:1269-1273.
-
(2008)
Mov Disord
, vol.23
, pp. 1269-1273
-
-
Guerreiro, R.J.1
Santana, I.2
Bras, J.M.3
-
140
-
-
62349102691
-
Prominent phenotypic variability associated with mutations in Progranulin
-
Kelley BJ, Haidar W, Boeve BF, et al. Prominent phenotypic variability associated with mutations in Progranulin. Neurobiol Aging 2009;30:739-751.
-
(2009)
Neurobiol Aging
, vol.30
, pp. 739-751
-
-
Kelley, B.J.1
Haidar, W.2
Boeve, B.F.3
-
141
-
-
79952595988
-
Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia
-
Passov V, Gavrilova RH, Strand E, Cerhan JH, Josephs KA. Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia. Arch Neurol 2011;68:376-380.
-
(2011)
Arch Neurol
, vol.68
, pp. 376-380
-
-
Passov, V.1
Gavrilova, R.H.2
Strand, E.3
Cerhan, J.H.4
Josephs, K.A.5
-
142
-
-
34548633862
-
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C->T (Arg493X) mutation: an international initiative
-
Rademakers R, Baker M, Gass J, et al. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C->T (Arg493X) mutation: an international initiative. Lancet Neurol 2007;6:857-868.
-
(2007)
Lancet Neurol
, vol.6
, pp. 857-868
-
-
Rademakers, R.1
Baker, M.2
Gass, J.3
-
143
-
-
70449377606
-
Corticobasal syndrome associated with a novel 1048_1049insG progranulin mutation
-
Rohrer JD, Beck J, Warren JD, et al. Corticobasal syndrome associated with a novel 1048_1049insG progranulin mutation. J Neurol Neurosurg Psychiatry 2009;80:1297-1298.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 1297-1298
-
-
Rohrer, J.D.1
Beck, J.2
Warren, J.D.3
-
144
-
-
34948898536
-
Corticobasal syndrome associated with the A9D Progranulin mutation
-
Spina S, Murrell JR, Huey ED, et al. Corticobasal syndrome associated with the A9D Progranulin mutation. J Neuropathol Exp Neurol 2007;66:892-900.
-
(2007)
J Neuropathol Exp Neurol
, vol.66
, pp. 892-900
-
-
Spina, S.1
Murrell, J.R.2
Huey, E.D.3
-
145
-
-
51449089054
-
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
-
van Swieten JC, Heutink P. Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol 2008;7:965-974.
-
(2008)
Lancet Neurol
, vol.7
, pp. 965-974
-
-
van Swieten, J.C.1
Heutink, P.2
-
146
-
-
39749135522
-
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study
-
Le Ber I, Camuzat A, Hannequin D, et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain 2008;131(Pt 3):732-746.
-
(2008)
Brain
, vol.131
, Issue.PART 3
, pp. 732-746
-
-
Le Ber, I.1
Camuzat, A.2
Hannequin, D.3
-
147
-
-
42949138769
-
Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings
-
Lopez de Munain A, Alzualde A, Gorostidi A, et al. Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings. Biol Psychiatry 2008;63:946-952.
-
(2008)
Biol Psychiatry
, vol.63
, pp. 946-952
-
-
Lopez de Munain, A.1
Alzualde, A.2
Gorostidi, A.3
-
148
-
-
84861130735
-
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis
-
Herdewyn S, Zhao H, Moisse M, et al. Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis. Hum Mol Genet 2012;21:2412-2419.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 2412-2419
-
-
Herdewyn, S.1
Zhao, H.2
Moisse, M.3
-
149
-
-
34848906841
-
Focal cortical presentations of Alzheimer's disease
-
Alladi S, Xuereb J, Bak T, et al. Focal cortical presentations of Alzheimer's disease. Brain 2007;130(Pt 10):2636-2645.
-
(2007)
Brain
, vol.130
, Issue.PART 10
, pp. 2636-2645
-
-
Alladi, S.1
Xuereb, J.2
Bak, T.3
-
150
-
-
33845211731
-
Alzheimer's disease presenting as corticobasal syndrome
-
Chand P, Grafman J, Dickson D, Ishizawa K, Litvan I. Alzheimer's disease presenting as corticobasal syndrome. Mov Disord 2006;21:2018-2022.
-
(2006)
Mov Disord
, vol.21
, pp. 2018-2022
-
-
Chand, P.1
Grafman, J.2
Dickson, D.3
Ishizawa, K.4
Litvan, I.5
-
151
-
-
0242439531
-
Pathological heterogeneity of clinically diagnosed corticobasal degeneration
-
Doran M, du Plessis DG, Enevoldson TP, Fletcher NA, Ghadiali E, Larner AJ. Pathological heterogeneity of clinically diagnosed corticobasal degeneration. J Neurol Sci 2003;216:127-134.
-
(2003)
J Neurol Sci
, vol.216
, pp. 127-134
-
-
Doran, M.1
Du Plessis, D.G.2
Enevoldson, T.P.3
Fletcher, N.A.4
Ghadiali, E.5
Larner, A.J.6
-
153
-
-
77955060966
-
Anatomical differences between CBS-corticobasal degeneration and CBS-Alzheimer's disease
-
Josephs KA, Whitwell JL, Boeve BF, et al. Anatomical differences between CBS-corticobasal degeneration and CBS-Alzheimer's disease. Mov Disord 2010;25:1246-1252.
-
(2010)
Mov Disord
, vol.25
, pp. 1246-1252
-
-
Josephs, K.A.1
Whitwell, J.L.2
Boeve, B.F.3
-
154
-
-
0036526144
-
Asymmetric myoclonic parietal syndrome in a patient with Alzheimer's disease mimicking corticobasal degeneration
-
Lleo A, Rey MJ, Castellvi M, Ferrer I, Blesa R. Asymmetric myoclonic parietal syndrome in a patient with Alzheimer's disease mimicking corticobasal degeneration. Neurologia 2002;17:223-226.
-
(2002)
Neurologia
, vol.17
, pp. 223-226
-
-
Lleo, A.1
Rey, M.J.2
Castellvi, M.3
Ferrer, I.4
Blesa, R.5
-
155
-
-
37349008473
-
Links between frontotemporal lobar degeneration, corticobasal degeneration, progressive supranuclear palsy, and amyotrophic lateral sclerosis
-
Boeve BF. Links between frontotemporal lobar degeneration, corticobasal degeneration, progressive supranuclear palsy, and amyotrophic lateral sclerosis. Alzheimer Dis Assoc Disord 2007;21:S31-S38.
-
(2007)
Alzheimer Dis Assoc Disord
, vol.21
-
-
Boeve, B.F.1
-
156
-
-
79960817329
-
A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features
-
Gallo M, Marcello N, Curcio SA, et al. A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features. J Alzheimers Dis 2011;25:425-431.
-
(2011)
J Alzheimers Dis
, vol.25
, pp. 425-431
-
-
Gallo, M.1
Marcello, N.2
Curcio, S.A.3
-
157
-
-
32844465332
-
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene
-
Larner AJ, Doran M. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene. J Neurol 2006;253:139-158.
-
(2006)
J Neurol
, vol.253
, pp. 139-158
-
-
Larner, A.J.1
Doran, M.2
-
158
-
-
84859987906
-
Saccade abnormalities in autopsy-confirmed frontotemporal lobar degeneration and Alzheimer disease
-
Boxer AL, Garbutt S, Seeley WW, et al. Saccade abnormalities in autopsy-confirmed frontotemporal lobar degeneration and Alzheimer disease. Arch Neurol 2012;69:509-517.
-
(2012)
Arch Neurol
, vol.69
, pp. 509-517
-
-
Boxer, A.L.1
Garbutt, S.2
Seeley, W.W.3
-
159
-
-
79960145969
-
Presenilin-2 gene mutation presenting as Lewy body dementia?
-
Raciti L, Nicoletti A, Le Pira F, et al. Presenilin-2 gene mutation presenting as Lewy body dementia? Neurol Sci 2011;32:533-534.
-
(2011)
Neurol Sci
, vol.32
, pp. 533-534
-
-
Raciti, L.1
Nicoletti, A.2
Le Pira, F.3
-
160
-
-
77952304021
-
Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge
-
Bjorkhem I, Hansson M. Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge. Biochem Biophys Res Commun 2010;396:46-49.
-
(2010)
Biochem Biophys Res Commun
, vol.396
, pp. 46-49
-
-
Bjorkhem, I.1
Hansson, M.2
-
161
-
-
84871723310
-
Cerebrotendinous xanthomatosis
-
Pagon RA, Bird TD, Dolan CR, GeneReviews™. Seattle, WA: University of Washington, Seattle; 1993- (first posted July 16, 2003; updated October 20, 2011). Available at: Accessed April 24
-
Federico A, Dotti MT, Gallus GN. Cerebrotendinous xanthomatosis. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviews™. Seattle, WA: University of Washington, Seattle; 1993- (first posted July 16, 2003; updated October 20, 2011). Available at: http://www.ncbi.nlm.nih.gov/books/NBK1409/. Accessed April 24, 2013.
-
(2013)
-
-
Federico, A.1
Dotti, M.T.2
Gallus, G.N.3
-
162
-
-
79961166408
-
[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]
-
Pilo de la Fuente B, Sobrido MJ, Giros M, et al. [Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]. Neurologia 2011;26:397-404.
-
(2011)
Neurologia
, vol.26
, pp. 397-404
-
-
Pilo de la Fuente, B.1
Sobrido, M.J.2
Giros, M.3
-
163
-
-
80052806070
-
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey
-
Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, et al. Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Eur J Neurol 2011;18:1203-1211.
-
(2011)
Eur J Neurol
, vol.18
, pp. 1203-1211
-
-
Pilo-de-la-Fuente, B.1
Jimenez-Escrig, A.2
Lorenzo, J.R.3
-
165
-
-
0026133499
-
Parkinsonism in cerebrotendinous xanthomatosis
-
Fujiyama J, Kuriyama M, Yoshidome H, et al. Parkinsonism in cerebrotendinous xanthomatosis. Jpn J Med 1991;30:189-192.
-
(1991)
Jpn J Med
, vol.30
, pp. 189-192
-
-
Fujiyama, J.1
Kuriyama, M.2
Yoshidome, H.3
-
166
-
-
0029932915
-
PET analysis of a case of cerebrotendinous xanthomatosis presenting hemiparkinsonism
-
Kuwabara K, Hitoshi S, Nukina N, et al. PET analysis of a case of cerebrotendinous xanthomatosis presenting hemiparkinsonism. J Neurol Sci 1996;138(1-2):145-149.
-
(1996)
J Neurol Sci
, vol.138
, Issue.1-2
, pp. 145-149
-
-
Kuwabara, K.1
Hitoshi, S.2
Nukina, N.3
-
167
-
-
84871793065
-
Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review
-
Rubio-Agusti I, Kojovic M, Edwards MJ, et al. Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review. Mov Disord 2012;27:1769-1774.
-
(2012)
Mov Disord
, vol.27
, pp. 1769-1774
-
-
Rubio-Agusti, I.1
Kojovic, M.2
Edwards, M.J.3
-
168
-
-
84655161937
-
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis
-
Mignarri A, Falcini M, Vella A, et al. Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis. Parkinsonism Relat Disord 2012;18:99-101.
-
(2012)
Parkinsonism Relat Disord
, vol.18
, pp. 99-101
-
-
Mignarri, A.1
Falcini, M.2
Vella, A.3
-
169
-
-
0028784759
-
Ocular and systemic manifestations of cerebrotendinous xanthomatosis
-
Cruysberg JR, Wevers RA, van Engelen BG, Pinckers A, van Spreeken A, Tolboom JJ. Ocular and systemic manifestations of cerebrotendinous xanthomatosis. Am J Ophthalmol 1995;120:597-604.
-
(1995)
Am J Ophthalmol
, vol.120
, pp. 597-604
-
-
Cruysberg, J.R.1
Wevers, R.A.2
van Engelen, B.G.3
Pinckers, A.4
van Spreeken, A.5
Tolboom, J.J.6
-
170
-
-
61449249843
-
Normal dopamine transporter single photon-emission CT scan in corticobasal degeneration
-
O'Sullivan SS, Burn DJ, Holton JL, Lees AJ. Normal dopamine transporter single photon-emission CT scan in corticobasal degeneration. Mov Disord 2008;23:2424-2426.
-
(2008)
Mov Disord
, vol.23
, pp. 2424-2426
-
-
O'Sullivan, S.S.1
Burn, D.J.2
Holton, J.L.3
Lees, A.J.4
-
171
-
-
8844253982
-
Enzyme-replacement therapy for metabolic storage disorders
-
Brady RO, Schiffmann R. Enzyme-replacement therapy for metabolic storage disorders. Lancet Neurol 2004;3:752-756.
-
(2004)
Lancet Neurol
, vol.3
, pp. 752-756
-
-
Brady, R.O.1
Schiffmann, R.2
-
172
-
-
0032851678
-
Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene
-
Mallucci GR, Campbell TA, Dickinson A, et al. Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. Brain 1999;122 (Pt 10):1823-1837.
-
(1999)
Brain
, vol.122
, Issue.PART 10
, pp. 1823-1837
-
-
Mallucci, G.R.1
Campbell, T.A.2
Dickinson, A.3
-
173
-
-
23344450122
-
Fragile X-associated tremor/ataxia syndrome and movements disorders
-
Baba Y, Uitti RJ. Fragile X-associated tremor/ataxia syndrome and movements disorders. Curr Opin Neurol 2005;18:393-398.
-
(2005)
Curr Opin Neurol
, vol.18
, pp. 393-398
-
-
Baba, Y.1
Uitti, R.J.2
-
174
-
-
36749009300
-
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines
-
Quiz 2140
-
Berry-Kravis E, Abrams L, Coffey SM, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007;22:2018-2030, quiz 2140.
-
(2007)
Mov Disord
, vol.22
, pp. 2018-2030
-
-
Berry-Kravis, E.1
Abrams, L.2
Coffey, S.M.3
-
175
-
-
84863195737
-
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS
-
Tassone F, Greco CM, Hunsaker MR, et al. Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav 2012;11:577-585.
-
(2012)
Genes Brain Behav
, vol.11
, pp. 577-585
-
-
Tassone, F.1
Greco, C.M.2
Hunsaker, M.R.3
-
176
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Greco CM, Berman RF, Martin RM, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2006;129(Pt 1):243-255.
-
(2006)
Brain
, vol.129
, Issue.PART 1
, pp. 243-255
-
-
Greco, C.M.1
Berman, R.F.2
Martin, R.M.3
-
177
-
-
84871320088
-
FXTAS: new insights and the need for revised diagnostic criteria
-
Apartis E, Blancher A, Meissner WG, et al. FXTAS: new insights and the need for revised diagnostic criteria. Neurology 2012;79:1898-1907.
-
(2012)
Neurology
, vol.79
, pp. 1898-1907
-
-
Apartis, E.1
Blancher, A.2
Meissner, W.G.3
-
178
-
-
43049129705
-
A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS
-
Aguilar D, Sigford KE, Soontarapornchai K, et al. A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS. Am J Med Genet A 2008;146A:629-635.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 629-635
-
-
Aguilar, D.1
Sigford, K.E.2
Soontarapornchai, K.3
-
179
-
-
47849090388
-
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
-
Hagerman RJ, Hall DA, Coffey S, et al. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging 2008;3:251-262.
-
(2008)
Clin Interv Aging
, vol.3
, pp. 251-262
-
-
Hagerman, R.J.1
Hall, D.A.2
Coffey, S.3
-
180
-
-
23444442557
-
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group
-
Kamm C, Healy DG, Quinn NP, et al. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain 2005;128(Pt 8):1855-1860.
-
(2005)
Brain
, vol.128
, Issue.PART 8
, pp. 1855-1860
-
-
Kamm, C.1
Healy, D.G.2
Quinn, N.P.3
-
181
-
-
0035353759
-
Pontine MRI hyperintensities ("the cross sign") are not pathognomonic for multiple system atrophy (MSA)
-
Burk K, Skalej M, Dichgans J. Pontine MRI hyperintensities ("the cross sign") are not pathognomonic for multiple system atrophy (MSA). Mov Disord 2001;16:535.
-
(2001)
Mov Disord
, vol.16
, pp. 535
-
-
Burk, K.1
Skalej, M.2
Dichgans, J.3
-
182
-
-
79955410753
-
A hot cross bun sign from diffusion tensor imaging and tractography perspective
-
Loh KB, Rahmat K, Lim SY, Ramli N. A hot cross bun sign from diffusion tensor imaging and tractography perspective. Neurol India 2011;59:266-269.
-
(2011)
Neurol India
, vol.59
, pp. 266-269
-
-
Loh, K.B.1
Rahmat, K.2
Lim, S.Y.3
Ramli, N.4
-
183
-
-
72149105869
-
Hot cross bun sign in a patient with SCA-2
-
Marrannes J, Mulleners E. Hot cross bun sign in a patient with SCA-2. JBR-BTR 2009;92:263.
-
(2009)
JBR-BTR
, vol.92
, pp. 263
-
-
Marrannes, J.1
Mulleners, E.2
-
184
-
-
67651171531
-
Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor-ataxia syndrome
-
Healy DG, Bressman S, Dickson J, et al. Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor-ataxia syndrome. Mov Disord 2009;24:1245-1247.
-
(2009)
Mov Disord
, vol.24
, pp. 1245-1247
-
-
Healy, D.G.1
Bressman, S.2
Dickson, J.3
-
186
-
-
79955391810
-
Hot cross bun" sign in HIV-related progressive multifocal leukoencephalopathy
-
Yadav R, Ramdas M, Karthik N, et al. "Hot cross bun" sign in HIV-related progressive multifocal leukoencephalopathy. Neurol India 2011;59:293-294.
-
(2011)
Neurol India
, vol.59
, pp. 293-294
-
-
Yadav, R.1
Ramdas, M.2
Karthik, N.3
-
188
-
-
33645736493
-
Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers
-
Ceravolo R, Antonini A, Volterrani D, et al. Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers. Neurology 2005;65:1971-1973.
-
(2005)
Neurology
, vol.65
, pp. 1971-1973
-
-
Ceravolo, R.1
Antonini, A.2
Volterrani, D.3
-
189
-
-
77958153723
-
FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients
-
Hall DA, Jennings D, Seibyl J, Tassone F, Marek K. FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients. Parkinsonism Relat Disord 2010;16:608-611.
-
(2010)
Parkinsonism Relat Disord
, vol.16
, pp. 608-611
-
-
Hall, D.A.1
Jennings, D.2
Seibyl, J.3
Tassone, F.4
Marek, K.5
-
190
-
-
84883164047
-
Early abnormalities in 123I-ioflupane (DaTSCAN) imaging in the fragile X-associated tremor ataxia syndrome (FXTAS)
-
A case report. [Epub 2012 Oct 18. DOI: 10.1007/s10072-012-1223-6].
-
Madeo G, Alemseged F, Di Pietro B, Schillaci O, Pisani A. Early abnormalities in 123I-ioflupane (DaTSCAN) imaging in the fragile X-associated tremor ataxia syndrome (FXTAS): a case report. Neurol Sci (in press) [Epub 2012 Oct 18. DOI: 10.1007/s10072-012-1223-6].
-
Neurol Sci
-
-
Madeo, G.1
Alemseged, F.2
Di Pietro, B.3
Schillaci, O.4
Pisani, A.5
-
191
-
-
38549133867
-
MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome
-
Scaglione C, Ginestroni A, Vella A, et al. MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome. J Neurol 2008;255:144-146.
-
(2008)
J Neurol
, vol.255
, pp. 144-146
-
-
Scaglione, C.1
Ginestroni, A.2
Vella, A.3
-
192
-
-
65849514220
-
SCA3: neurological features, pathogenesis and animal models
-
Riess O, Rub U, Pastore A, Bauer P, Schols L. SCA3: neurological features, pathogenesis and animal models. Cerebellum 2008;7:125-137.
-
(2008)
Cerebellum
, vol.7
, pp. 125-137
-
-
Riess, O.1
Rub, U.2
Pastore, A.3
Bauer, P.4
Schols, L.5
-
193
-
-
0033772440
-
Extrapyramidal motor signs in degenerative ataxias
-
Schols L, Peters S, Szymanski S, et al. Extrapyramidal motor signs in degenerative ataxias. Arch Neurol 2000;57:1495-1500.
-
(2000)
Arch Neurol
, vol.57
, pp. 1495-1500
-
-
Schols, L.1
Peters, S.2
Szymanski, S.3
-
194
-
-
84859006164
-
Spinocerebellar ataxia: a rational approach to aetiological diagnosis
-
Degardin A, Dobbelaere D, Vuillaume I, et al. Spinocerebellar ataxia: a rational approach to aetiological diagnosis. Cerebellum 2012;11:289-299.
-
(2012)
Cerebellum
, vol.11
, pp. 289-299
-
-
Degardin, A.1
Dobbelaere, D.2
Vuillaume, I.3
-
195
-
-
67449136057
-
Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism
-
Kim JY, Kim SY, Kim JM, et al. Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism. Neurology 2009;72:1385-1389.
-
(2009)
Neurology
, vol.72
, pp. 1385-1389
-
-
Kim, J.Y.1
Kim, S.Y.2
Kim, J.M.3
-
196
-
-
34247117930
-
The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment
-
Lin IS, Wu RM, Lee-Chen GJ, Shan DE, Gwinn-Hardy K. The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment. Parkinsonism Relat Disord 2007;13:246-249.
-
(2007)
Parkinsonism Relat Disord
, vol.13
, pp. 246-249
-
-
Lin, I.S.1
Wu, R.M.2
Lee-Chen, G.J.3
Shan, D.E.4
Gwinn-Hardy, K.5
-
197
-
-
84892365103
-
Dysautonomia is frequent in Machado-Joseph disease: clinical and neurophysiological evaluation
-
[Epub 2013 Feb 15. DOI:10.1007/s12311-013-0458-y].
-
Takazaki KA, D'Abreu A, Nucci A, Lopes-Cendes I, França MC Jr. Dysautonomia is frequent in Machado-Joseph disease: clinical and neurophysiological evaluation. Cerebellum (in press). [Epub 2013 Feb 15. DOI:10.1007/s12311-013-0458-y].
-
Cerebellum
-
-
Takazaki, K.A.1
D'Abreu, A.2
Nucci, A.3
Lopes-Cendes, I.4
França Jr., M.C.5
-
198
-
-
67949101791
-
Altered heart rate control in response to postural change in patients with Machado-Joseph disease (SCA3)
-
Koyama Y, Asahina M, Honma K, Arai K, Hattori T. Altered heart rate control in response to postural change in patients with Machado-Joseph disease (SCA3). Cerebellum 2009;8:130-136.
-
(2009)
Cerebellum
, vol.8
, pp. 130-136
-
-
Koyama, Y.1
Asahina, M.2
Honma, K.3
Arai, K.4
Hattori, T.5
-
199
-
-
1442280313
-
Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism
-
Varrone A, Salvatore E, De Michele G, et al. Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism. Ann Neurol 2004;55:426-430.
-
(2004)
Ann Neurol
, vol.55
, pp. 426-430
-
-
Varrone, A.1
Salvatore, E.2
De Michele, G.3
-
200
-
-
0034043492
-
Decreased dopamine transporter binding in Machado-Joseph disease
-
Yen TC, Lu CS, Tzen KY, et al. Decreased dopamine transporter binding in Machado-Joseph disease. J Nucl Med 2000;41:994-998.
-
(2000)
J Nucl Med
, vol.41
, pp. 994-998
-
-
Yen, T.C.1
Lu, C.S.2
Tzen, K.Y.3
-
201
-
-
77952561333
-
The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6
-
Kim JM, Lee JY, Kim HJ, et al. The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6. J Neurol Neurosurg Psychiatry 2010;81:529-532.
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 529-532
-
-
Kim, J.M.1
Lee, J.Y.2
Kim, H.J.3
-
202
-
-
0036238233
-
The aetiology of sporadic adult-onset ataxia
-
Abele M, Burk K, Schols L, et al. The aetiology of sporadic adult-onset ataxia. Brain 2002;125(Pt 5):961-968.
-
(2002)
Brain
, vol.125
, Issue.PART 5
, pp. 961-968
-
-
Abele, M.1
Burk, K.2
Schols, L.3
-
203
-
-
27744518721
-
Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)
-
Khan NL, Giunti P, Sweeney MG, et al. Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6). Mov Disord 2005;20:1115-1119.
-
(2005)
Mov Disord
, vol.20
, pp. 1115-1119
-
-
Khan, N.L.1
Giunti, P.2
Sweeney, M.G.3
-
204
-
-
84864005111
-
SCA6 presenting with young-onset parkinsonism without ataxia
-
Yun JY, Kim JM, Kim HJ, Kim YE, Jeon BS. SCA6 presenting with young-onset parkinsonism without ataxia. Mov Disord 2012;27:1067-1068.
-
(2012)
Mov Disord
, vol.27
, pp. 1067-1068
-
-
Yun, J.Y.1
Kim, J.M.2
Kim, H.J.3
Kim, Y.E.4
Jeon, B.S.5
-
205
-
-
0031960474
-
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds
-
Schols L, Kruger R, Amoiridis G, Przuntek H, Epplen JT, Riess O. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 1998;64:67-73.
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.64
, pp. 67-73
-
-
Schols, L.1
Kruger, R.2
Amoiridis, G.3
Przuntek, H.4
Epplen, J.T.5
Riess, O.6
-
206
-
-
79954989631
-
Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype
-
Mehta AR, Fox SH, Tarnopolsky M, Yoon G. Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype. Mov Disord 2011;26:753-755.
-
(2011)
Mov Disord
, vol.26
, pp. 753-755
-
-
Mehta, A.R.1
Fox, S.H.2
Tarnopolsky, M.3
Yoon, G.4
-
207
-
-
58849122658
-
Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: the NNIPPS study
-
Bensimon G, Ludolph A, Agid Y, Vidailhet M, Payan C, Leigh PN. Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: the NNIPPS study. Brain 2009;132(Pt 1):156-171.
-
(2009)
Brain
, vol.132
, Issue.PART 1
, pp. 156-171
-
-
Bensimon, G.1
Ludolph, A.2
Agid, Y.3
Vidailhet, M.4
Payan, C.5
Leigh, P.N.6
-
208
-
-
78349241725
-
Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry
-
Kollensperger M, Geser F, Ndayisaba JP, et al. Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry. Mov Disord 2010;25:2604-2612.
-
(2010)
Mov Disord
, vol.25
, pp. 2604-2612
-
-
Kollensperger, M.1
Geser, F.2
Ndayisaba, J.P.3
-
210
-
-
0030908014
-
Corticobasal degeneration: neuropathologic and clinical heterogeneity
-
Schneider JA, Watts RL, Gearing M, Brewer RP, Mirra SS. Corticobasal degeneration: neuropathologic and clinical heterogeneity. Neurology 1997;48:959-969.
-
(1997)
Neurology
, vol.48
, pp. 959-969
-
-
Schneider, J.A.1
Watts, R.L.2
Gearing, M.3
Brewer, R.P.4
Mirra, S.S.5
|