-
1
-
-
51849116835
-
The pathogenesis of Niemann-Pick type C disease: A role for autophagy?
-
Pacheco CD, Lieberman AP (2008) The pathogenesis of Niemann-Pick type C disease: a role for autophagy? Expert Rev Mol Med 10:e26
-
(2008)
Expert Rev Mol Med
, vol.10
-
-
Pacheco, C.D.1
Lieberman, A.P.2
-
2
-
-
33845910402
-
The adult form of Niemann-Pick disease type C
-
Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F (2007) The adult form of Niemann-Pick disease type C. Brain 130:120-133
-
(2007)
Brain
, vol.130
, pp. 120-133
-
-
Sévin, M.1
Lesca, G.2
Baumann, N.3
Millat, G.4
Lyon-Caen, O.5
Vanier, M.T.6
Sedel, F.7
-
3
-
-
0242386620
-
Morbus niemann-pick typ c-eine neurometabolische erkrankung durch störung des intrazellulären lipidtransports
-
Grau AJ, Weisbrod M, Hund E, Harzer K (2003) Morbus Niemann-Pick Typ C-Eine neurometabolische Erkrankung durch Störung des intrazellulären Lipidtransports. Nervenarzt 74:900-905
-
(2003)
Nervenarzt
, vol.74
, pp. 900-905
-
-
Grau, A.J.1
Weisbrod, M.2
Hund, E.3
Harzer, K.4
-
4
-
-
77953019480
-
Niemann-Pick disease type C
-
Vanier MT (2010) Niemann-Pick disease type C. Orphanet J Rare Dis 5:16
-
(2010)
Orphanet J Rare Dis
, vol.5
, pp. 16
-
-
Vanier, M.T.1
-
6
-
-
0030728051
-
Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease
-
Rottach KG, von Maydell RD, Das VE, Zivotofsky AZ, Discenna AO, Gordon JL, Landis DM, Leigh RJ (1997) Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease. Vision Res 37:3627-3638
-
(1997)
Vision Res
, vol.37
, pp. 3627-3638
-
-
Rottach, K.G.1
Von Maydell, R.D.2
Das, V.E.3
Zivotofsky, A.Z.4
Discenna, A.O.5
Gordon, J.L.6
Landis, D.M.7
Leigh, R.J.8
-
7
-
-
80053216043
-
The disturbance of gaze in progressive supranuclear palsy: Implications for pathogenesis
-
Chen AL, Riley DE, King SA, Joshi AC, Serra A, Liao K, Cohen ML, Otero-Millan J, Martinez-Conde S, Strupp M, Leigh RJ (2010) The disturbance of gaze in progressive supranuclear palsy: implications for pathogenesis. Front Neurol 1:147
-
(2010)
Front Neurol
, vol.1
, pp. 147
-
-
Chen, A.L.1
Riley, D.E.2
King, S.A.3
Joshi, A.C.4
Serra, A.5
Liao, K.6
Cohen, M.L.7
Otero-Millan, J.8
Martinez-Conde, S.9
Strupp, M.10
Leigh, R.J.11
-
8
-
-
84863594896
-
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C
-
Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA (2012) Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 78:1560-1567
-
(2012)
Neurology
, vol.78
, pp. 1560-1567
-
-
Wijburg, F.A.1
Sedel, F.2
Pineda, M.3
Hendriksz, C.J.4
Fahey, M.5
Walterfang, M.6
Patterson, M.C.7
Wraith, J.E.8
Kolb, S.A.9
-
9
-
-
67849098806
-
Recommendations on the diagnosis and management of Niemann-Pick disease type C
-
NP-C Guidelines Working Group, Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topçu M, Vanier MT, Widner H, Wijburg FA, Patterson MC (2009) Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 98:152-165
-
(2009)
Mol Genet Metab
, vol.98
, pp. 152-165
-
-
Wraith, J.E.1
Baumgartner, M.R.2
Bembi, B.3
Covanis, A.4
Levade, T.5
Mengel, E.6
Pineda, M.7
Sedel, F.8
Topçu, M.9
Vanier, M.T.10
Widner, H.11
Wijburg, F.A.12
Patterson, M.C.13
-
10
-
-
84858612964
-
Normalization of cholesterol homeostasis by 2-hydroxypropyl-beta- cyclodextrin in neurons and glia from Niemann-Pick C1-deficient mice
-
doi: 10.1074/jbc.M111.326405
-
Peake KB, Vance JE (2012) Normalization of cholesterol homeostasis by 2-hydroxypropyl-beta-cyclodextrin in neurons and glia from Niemann-Pick C1-deficient mice. J Biol Chem. doi: 10.1074/jbc.M111.326405
-
J Biol Chem
, vol.2012
-
-
Peake, K.B.1
Vance, J.E.2
-
11
-
-
79954995849
-
Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts
-
Pipalia NH, Cosner CC, Huang A, Chatterjee A, Bourbon P, Farley N, Helquist P, Wiest O, Maxfield FR (2011) Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts. Proc Natl Acad Sci USA 108:5620-5625
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 5620-5625
-
-
Pipalia, N.H.1
Cosner, C.C.2
Huang, A.3
Chatterjee, A.4
Bourbon, P.5
Farley, N.6
Helquist, P.7
Wiest, O.8
Maxfield, F.R.9
-
13
-
-
34848824402
-
Saccades and pursuit: Two outcomes of a single sensorimotor process
-
Orban de Xivry JJ, Lefèvre P (2007) Saccades and pursuit: two outcomes of a single sensorimotor process. J Physiol 584:11-23
-
(2007)
J Physiol
, vol.584
, pp. 11-23
-
-
De Xivry, J.J.O.1
Lefèvre, P.2
-
14
-
-
70450203070
-
Internuclear and supranuclear disorders of eye movements: Clinical features and causes
-
Karatas M (2009) Internuclear and supranuclear disorders of eye movements: clinical features and causes. Eur J Neurol 16:1265-1277
-
(2009)
Eur J Neurol
, vol.16
, pp. 1265-1277
-
-
Karatas, M.1
-
15
-
-
0024614096
-
Ocular motor paresis versus apraxia
-
Sharpe JA, Johnston JL (1989) Ocular motor paresis versus apraxia. Ann Neurol 25:209-210
-
(1989)
Ann Neurol
, vol.25
, pp. 209-210
-
-
Sharpe, J.A.1
Johnston, J.L.2
-
16
-
-
22144436233
-
Niemann-Pick type C disease in two affected sisters: Ocular motor recordings and brain-stem neuropathology
-
Solomon D, Winkelman AC, Zee DS, Gray L, Büttner-Ennever J (2005) Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology. Ann N Y Acad Sci 1039:436-445
-
(2005)
Ann N y Acad Sci
, vol.1039
, pp. 436-445
-
-
Solomon, D.1
Winkelman, A.C.2
Zee, D.S.3
Gray, L.4
Büttner-Ennever, J.5
-
17
-
-
0043092482
-
Influence of target size on vertical gaze palsy in a pathologically proven case of progressive supranuclear palsy
-
Seemungal BM, Faldon M, Revesz T, Lees AJ, Zee DS, Bronstein AM (2003) Influence of target size on vertical gaze palsy in a pathologically proven case of progressive supranuclear palsy. Mov Disord 18:818-822
-
(2003)
Mov Disord
, vol.18
, pp. 818-822
-
-
Seemungal, B.M.1
Faldon, M.2
Revesz, T.3
Lees, A.J.4
Zee, D.S.5
Bronstein, A.M.6
-
18
-
-
0034705086
-
A hypothetical scheme for the brainstem control of vertical gaze
-
Bhidayasiri R, Plant GT, Leigh RJ (2000) A hypothetical scheme for the brainstem control of vertical gaze. Neurology 54:1985-1993
-
(2000)
Neurology
, vol.54
, pp. 1985-1993
-
-
Bhidayasiri, R.1
Plant, G.T.2
Leigh, R.J.3
-
19
-
-
49549086874
-
New insights into the upward vestibulo-oculomotor pathways in the human brainstem
-
Pierrot-Deseilligny C, Tilikete C (2008) New insights into the upward vestibulo-oculomotor pathways in the human brainstem. Prog Brain Res 171:509-518
-
(2008)
Prog Brain Res
, vol.171
, pp. 509-518
-
-
Pierrot-Deseilligny, C.1
Tilikete, C.2
-
20
-
-
84859435061
-
Cerebellum and ocular motor control
-
Kheradmand A, Zee DS (2011) Cerebellum and ocular motor control. Front Neurol 2:53
-
(2011)
Front Neurol
, vol.2
, pp. 53
-
-
Kheradmand, A.1
Zee, D.S.2
-
21
-
-
38849097742
-
Clinical and neuropathologic features of progressive supranuclear palsy with severe pallido-nigro-luysial degeneration and axonal dystrophy
-
Ahmed Z, Josephs KA, Gonzalez J, DelleDonne A, Dickson DW (2008) Clinical and neuropathologic features of progressive supranuclear palsy with severe pallido-nigro-luysial degeneration and axonal dystrophy. Brain 131:460-472
-
(2008)
Brain
, vol.131
, pp. 460-472
-
-
Ahmed, Z.1
Josephs, K.A.2
Gonzalez, J.3
Delledonne, A.4
Dickson, D.W.5
-
22
-
-
0036790759
-
A clinicopathological study of vascular progressive supranuclear palsy: A multi-infarct disorder presenting as progressive supranuclear palsy
-
Josephs KA, Ishizawa T, Tsuboi Y, Cookson N, Dickson DW (2002) A clinicopathological study of vascular progressive supranuclear palsy: a multi-infarct disorder presenting as progressive supranuclear palsy. Arch Neurol 59:1597-1601
-
(2002)
Arch Neurol
, vol.59
, pp. 1597-1601
-
-
Josephs, K.A.1
Ishizawa, T.2
Tsuboi, Y.3
Cookson, N.4
Dickson, D.W.5
-
23
-
-
28544440254
-
Neurodegenerative disorders mimicking progressive supranuclear palsy: A report of three cases
-
Murphy MA, Friedman JH, Tetrud JW, Factor SA (2005) Neurodegenerative disorders mimicking progressive supranuclear palsy: a report of three cases. J Clin Neurosci 12:941-945
-
(2005)
J Clin Neurosci
, vol.12
, pp. 941-945
-
-
Murphy, M.A.1
Friedman, J.H.2
Tetrud, J.W.3
Factor, S.A.4
-
24
-
-
0027433830
-
What is it? Case 1, 1993: Parkinsonism, dysautonomia, and ophthalmoparesis
-
Jankovic J, Rajput AH, Golbe LI, Goodman JC (1993) What is it? Case 1, 1993: parkinsonism, dysautonomia, and ophthalmoparesis. Mov Disord 8:525-532
-
(1993)
Mov Disord
, vol.8
, pp. 525-532
-
-
Jankovic, J.1
Rajput, A.H.2
Golbe, L.I.3
Goodman, J.C.4
-
25
-
-
49249115030
-
Oculomotor function in multiple system atrophy: Clinical and laboratory features in 30 patients
-
Anderson T, Luxon L, Quinn N, Daniel S, Marsden CD, Bronstein A (2008) Oculomotor function in multiple system atrophy: clinical and laboratory features in 30 patients. Mov Disord 23:977-984
-
(2008)
Mov Disord
, vol.23
, pp. 977-984
-
-
Anderson, T.1
Luxon, L.2
Quinn, N.3
Daniel, S.4
Marsden, C.D.5
Bronstein, A.6
-
26
-
-
12944259145
-
Corticobasal degeneration: An autopsy case clinically diagnosed as progressive supranuclear palsy
-
Shiozawa M, Fukutani Y, Sasaki K, Isaki K, Hamano T, Hirayama M, Imamura K, Mukai M, Arai N, Cairns NJ (2000) Corticobasal degeneration: an autopsy case clinically diagnosed as progressive supranuclear palsy. Clin Neuropathol 19:192-199
-
(2000)
Clin Neuropathol
, vol.19
, pp. 192-199
-
-
Shiozawa, M.1
Fukutani, Y.2
Sasaki, K.3
Isaki, K.4
Hamano, T.5
Hirayama, M.6
Imamura, K.7
Mukai, M.8
Arai, N.9
Cairns, N.J.10
-
27
-
-
0038164792
-
An autopsied case of dementia with Lewy bodies with supranuclear gaze palsy
-
Nakashima H, Terada S, Ishizu H, Tanabe Y, Yokota O, Ishihara T, Takata H, Ihara Y, Hayabara T, Kuroda S (2003) An autopsied case of dementia with Lewy bodies with supranuclear gaze palsy. Neurol Res 25:533-537
-
(2003)
Neurol Res
, vol.25
, pp. 533-537
-
-
Nakashima, H.1
Terada, S.2
Ishizu, H.3
Tanabe, Y.4
Yokota, O.5
Ishihara, T.6
Takata, H.7
Ihara, Y.8
Hayabara, T.9
Kuroda, S.10
-
28
-
-
0038353463
-
Tau exon 10 ?16 mutation FTDP-17 presenting clinically as sporadic young onset PSP
-
Morris HR, Osaki Y, Holton J, Lees AJ, Wood NW, Revesz T, Quinn N (2003) Tau exon 10 ?16 mutation FTDP-17 presenting clinically as sporadic young onset PSP. Neurology 61:102-104
-
(2003)
Neurology
, vol.61
, pp. 102-104
-
-
Morris, H.R.1
Osaki, Y.2
Holton, J.3
Lees, A.J.4
Wood, N.W.5
Revesz, T.6
Quinn, N.7
-
29
-
-
55149086998
-
Slow vertical saccades in the frontotemporal dementia with motor neuron disease
-
Moon SY, Lee BH, Seo SW, Kang SJ, Na DL (2008) Slow vertical saccades in the frontotemporal dementia with motor neuron disease. J Neurol 255:1337-1343
-
(2008)
J Neurol
, vol.255
, pp. 1337-1343
-
-
Moon, S.Y.1
Lee, B.H.2
Seo, S.W.3
Kang, S.J.4
Na, D.L.5
-
30
-
-
33846454357
-
Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279 K tau mutation
-
Slowinski J, Dominik J, Uitti RJ, Ahmed Z, Dickson DD, Wszolek ZK (2007) Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279 K tau mutation. Neuropathology 27:73-80
-
(2007)
Neuropathology
, vol.27
, pp. 73-80
-
-
Slowinski, J.1
Dominik, J.2
Uitti, R.J.3
Ahmed, Z.4
Dickson, D.D.5
Wszolek, Z.K.6
-
31
-
-
0026806745
-
Progressive subcortical gliosis and progressive supranuclear palsy can have similar clinical and PET abnormalities
-
Foster NL, Gilman S, Berent S, Sima AA, D'Amato C, Koeppe RA, Hicks SP (1992) Progressive subcortical gliosis and progressive supranuclear palsy can have similar clinical and PET abnormalities. J Neurol Neurosurg Psychiatry 55:707-713
-
(1992)
J Neurol Neurosurg Psychiatry
, vol.55
, pp. 707-713
-
-
Foster, N.L.1
Gilman, S.2
Berent, S.3
Sima, A.A.4
D'amato, C.5
Koeppe, R.A.6
Hicks, S.P.7
-
32
-
-
33846644830
-
Supranuclear vertical gaze abnormalities in sporadic Creutzfeldt-Jakob disease
-
Prasad S, Ko MW, Lee EB, Gonatas NK, Stern MB, Galetta S (2007) Supranuclear vertical gaze abnormalities in sporadic Creutzfeldt-Jakob disease. J Neurol Sci 253:69-72
-
(2007)
J Neurol Sci
, vol.253
, pp. 69-72
-
-
Prasad, S.1
Ko, M.W.2
Lee, E.B.3
Gonatas, N.K.4
Stern, M.B.5
Galetta, S.6
-
33
-
-
26444560660
-
Parkinsonism-dementia complex of Guam
-
Steele JC (2005) Parkinsonism-dementia complex of Guam. Mov Disord 20(Suppl 12):S99-S107
-
(2005)
Mov Disord
, vol.20
, Issue.SUPPL. 12
-
-
Steele, J.C.1
-
34
-
-
0031783966
-
Slow vertical saccades in motor neuron disease: Correlation of structure and function
-
Averbuch-Heller L, Helmchen C, Horn AK, Leigh RJ, Büttner-Ennerver JA (1998) Slow vertical saccades in motor neuron disease: correlation of structure and function. Ann Neurol 44:641-648
-
(1998)
Ann Neurol
, vol.44
, pp. 641-648
-
-
Averbuch-Heller, L.1
Helmchen, C.2
Horn, A.K.3
Leigh, R.J.4
Büttner-Ennerver, J.A.5
-
35
-
-
0036206405
-
Guadeloupean parkinsonism: A cluster of progressive supranuclear palsy-like tauopathy
-
Caparros-Lefebvre D, Sergeant N, Lees A, Camuzat A, Daniel S, Lannuzel A, Brice A, Tolosa E, Delacourte A, Duyckaerts C (2002) Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy-like tauopathy. Brain 125:801-811
-
(2002)
Brain
, vol.125
, pp. 801-811
-
-
Caparros-Lefebvre, D.1
Sergeant, N.2
Lees, A.3
Camuzat, A.4
Daniel, S.5
Lannuzel, A.6
Brice, A.7
Tolosa, E.8
Delacourte, A.9
Duyckaerts, C.10
-
36
-
-
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 (2005) Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord 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
-
37
-
-
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, Majounie E, Williams N, Hack M, Warren JD, Morris HR (2010) Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Mov Disord 25:767-770
-
(2010)
Mov Disord
, vol.25
, pp. 767-770
-
-
Newsway, V.1
Fish, M.2
Rohrer, J.D.3
Majounie, E.4
Williams, N.5
Hack, M.6
Warren, J.D.7
Morris, H.R.8
-
38
-
-
33750331692
-
LRRK2 mutations on Crete: R1441H associated with PD evolving to PSP
-
Spanaki C, Latsoudis H, Plaitakis A (2006) LRRK2 mutations on Crete: R1441H associated with PD evolving to PSP. Neurology 67:1518-1519
-
(2006)
Neurology
, vol.67
, pp. 1518-1519
-
-
Spanaki, C.1
Latsoudis, H.2
Plaitakis, A.3
-
39
-
-
0028301474
-
Idiopathic striopallidodentate calcification with prominent supranuclear abnormality of eye movement
-
Saver JL, Liu GT, Charness ME (1994) Idiopathic striopallidodentate calcification with prominent supranuclear abnormality of eye movement. J Neuroophthalmol 14:29-33
-
(1994)
J Neuroophthalmol
, vol.14
, pp. 29-33
-
-
Saver, J.L.1
Liu, G.T.2
Charness, M.E.3
-
40
-
-
4444371485
-
Woman with a 26-year history of parkinsonism, supranuclear ophthalmoplegia, and loss of postural reflexes
-
Gordon PH, Fahn S, Chin S, Golbe LI, Lynch T, Eidelberg D (2004) Woman with a 26-year history of parkinsonism, supranuclear ophthalmoplegia, and loss of postural reflexes. Mov Disord 19:950-961
-
(2004)
Mov Disord
, vol.19
, pp. 950-961
-
-
Gordon, P.H.1
Fahn, S.2
Chin, S.3
Golbe, L.I.4
Lynch, T.5
Eidelberg, D.6
-
41
-
-
23744440327
-
Neuroophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome
-
Egan RA, Weleber RG, Hogarth P, Gregory A, Coryell J, Westaway SK, Gitschier J, Das S, Hayflick SJ (2005) Neuroophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Am J Ophthalmol 140:267-274
-
(2005)
Am J Ophthalmol
, vol.140
, pp. 267-274
-
-
Egan, R.A.1
Weleber, R.G.2
Hogarth, P.3
Gregory, A.4
Coryell, J.5
Westaway, S.K.6
Gitschier, J.7
Das, S.8
Hayflick, S.J.9
-
42
-
-
60849121924
-
Characterization of PLA2G6 as a locus for dystonia-parkinsonism
-
Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA (2009) Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 65:19-23
-
(2009)
Ann Neurol
, vol.65
, pp. 19-23
-
-
Paisan-Ruiz, C.1
Bhatia, K.P.2
Li, A.3
Hernandez, D.4
Davis, M.5
Wood, N.W.6
Hardy, J.7
Houlden, H.8
Singleton, A.9
Schneider, S.A.10
-
43
-
-
0030807687
-
Ocular motor abnormalities in Huntington's disease
-
Lasker AG, Zee DS (1997) Ocular motor abnormalities in Huntington's disease. Vision Res 37:3639-3645
-
(1997)
Vision Res
, vol.37
, pp. 3639-3645
-
-
Lasker, A.G.1
Zee, D.S.2
-
45
-
-
0029959667
-
Autosomal dominant cerebellar ataxia type i clinical features and MRI in families with SCA1, SCA2 and SCA3
-
Bürk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, Didierjean O, Brice A, Klockgether T (1996) Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 119:1497-1505
-
(1996)
Brain
, vol.119
, pp. 1497-1505
-
-
Bürk, K.1
Abele, M.2
Fetter, M.3
Dichgans, J.4
Skalej, M.5
Laccone, F.6
Didierjean, O.7
Brice, A.8
Klockgether, T.9
-
46
-
-
0031018491
-
Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1
-
Klostermann W, Zühlke C, Heide W, Kömpf D, Wessel K (1997) Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1. J Neurol 244:105-111
-
(1997)
J Neurol
, vol.244
, pp. 105-111
-
-
Klostermann, W.1
Zühlke, C.2
Heide, W.3
Kömpf, D.4
Wessel, K.5
-
47
-
-
4444314941
-
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2
-
Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, Singleton A, Bower J, Utti RJ, Bird TD, de la Fuente-Fernandez R, Tsuboi Y, Klimek ML, Suchowersky O, Hardy J, Calne DB, Wszolek ZK, Farrer M, Gwinn-Hardy K, Stoessl AJ (2004) Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord 19:622-629
-
(2004)
Mov Disord
, vol.19
, pp. 622-629
-
-
Furtado, S.1
Payami, H.2
Lockhart, P.J.3
Hanson, M.4
Nutt, J.G.5
Singleton, A.A.6
Singleton, A.7
Bower, J.8
Utti, R.J.9
Bird, T.D.10
De La Fuente-Fernandez, R.11
Tsuboi, Y.12
Klimek, M.L.13
Suchowersky, O.14
Hardy, J.15
Calne, D.B.16
Wszolek, Z.K.17
Farrer, M.18
Gwinn-Hardy, K.19
Stoessl, A.J.20
more..
-
48
-
-
0034768113
-
Clinical and molecular correlations in spinocerebellar ataxia type 6: A study of 24 Dutch families
-
Sinke RJ, Ippel EF, Diepstraten CM, Beemer FA, Wokke JH, van Hilten BJ, Knoers NV, van Amstel HK, Kremer HP (2001) Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families. Arch Neurol 58:1839-1844
-
(2001)
Arch Neurol
, vol.58
, pp. 1839-1844
-
-
Sinke, R.J.1
Ippel, E.F.2
Diepstraten, C.M.3
Beemer, F.A.4
Wokke, J.H.5
Van Hilten, B.J.6
Knoers, N.V.7
Van Amstel, H.K.8
Kremer, H.P.9
-
49
-
-
0034992392
-
Slowing of voluntary and involuntary saccades: An early sign in spinocerebellar ataxia type 7
-
Oh AK, Jacobson KM, Jen JC, Baloh RW (2001) Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7. Ann Neurol 49:801-804
-
(2001)
Ann Neurol
, vol.49
, pp. 801-804
-
-
Oh, A.K.1
Jacobson, K.M.2
Jen, J.C.3
Baloh, R.W.4
-
50
-
-
27644586218
-
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14
-
Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G (2005) New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol 58:720-729
-
(2005)
Ann Neurol
, vol.58
, pp. 720-729
-
-
Klebe, S.1
Durr, A.2
Rentschler, A.3
Hahn-Barma, V.4
Abele, M.5
Bouslam, N.6
Schöls, L.7
Jedynak, P.8
Forlani, S.9
Denis, E.10
Dussert, C.11
Agid, Y.12
Bauer, P.13
Globas, C.14
Wüllner, U.15
Brice, A.16
Riess, O.17
Stevanin, G.18
-
51
-
-
34247117930
-
The SCA17 phenotype can include features of MSA-C
-
Lin IS, Wu RM, Lee-Chen GJ, Shan DE, Gwinn-Hardy K (2007) The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment. Parkinsonism Relat Disord 13:246-249
-
(2007)
PSP and Cognitive Impairment. 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
-
52
-
-
36348955582
-
Spinocerebellar ataxia type 17 (SCA17): Oculomotor phenotype and clinical characterization of 15 Italian patients
-
Mariotti C, Alpini D, Fancellu R, Soliveri P, Grisoli M, Ravaglia S, Lovati C, Fetoni V, Giaccone G, Castucci A, Taroni F, Gellera C, Di Donato S (2007) Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. J Neurol 254:1538-1546
-
(2007)
J Neurol
, vol.254
, pp. 1538-1546
-
-
Mariotti, C.1
Alpini, D.2
Fancellu, R.3
Soliveri, P.4
Grisoli, M.5
Ravaglia, S.6
Lovati, C.7
Fetoni, V.8
Giaccone, G.9
Castucci, A.10
Taroni, F.11
Gellera, C.12
Di Donato, S.13
-
53
-
-
0028958153
-
A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families
-
Warner TT, Williams LD, Walker RW, Flinter F, Robb SA, Bundey SE, Honavar M, Harding AE (1995) A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. Ann Neurol 37:452-459
-
(1995)
Ann Neurol
, vol.37
, pp. 452-459
-
-
Warner, T.T.1
Williams, L.D.2
Walker, R.W.3
Flinter, F.4
Robb, S.A.5
Bundey, S.E.6
Honavar, M.7
Harding, A.E.8
-
54
-
-
19944429457
-
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures
-
Straussberg R, Basel-Vanagaite L, Kivity S, Dabby R, Cirak S, Nurnberg P, Voit T, Mahajnah M, Inbar D, Saifi GM, Lupski JR, Delague V, Megarbane A, Richter A, Leshinsky E, Berkovic SF (2005) An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology 64:142-144
-
(2005)
Neurology
, vol.64
, pp. 142-144
-
-
Straussberg, R.1
Basel-Vanagaite, L.2
Kivity, S.3
Dabby, R.4
Cirak, S.5
Nurnberg, P.6
Voit, T.7
Mahajnah, M.8
Inbar, D.9
Saifi, G.M.10
Lupski, J.R.11
Delague, V.12
Megarbane, A.13
Richter, A.14
Leshinsky, E.15
Berkovic, S.F.16
-
55
-
-
34547626585
-
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation
-
Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P (2007) A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. Neurology 69:368-375
-
(2007)
Neurology
, vol.69
, pp. 368-375
-
-
Warnecke, T.1
Duning, T.2
Schwan, A.3
Lohmann, H.4
Epplen, J.T.5
Young, P.6
-
57
-
-
0029939777
-
Wolfram syndrome: Hereditary diabetes mellitus with brainstem and optic atrophy
-
Scolding NJ, Kellar-Wood HF, Shaw C, Shneerson JM, Antoun N (1996) Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. Ann Neurol 39:352-360
-
(1996)
Ann Neurol
, vol.39
, pp. 352-360
-
-
Scolding, N.J.1
Kellar-Wood, H.F.2
Shaw, C.3
Shneerson, J.M.4
Antoun, N.5
-
58
-
-
0018163187
-
Eye movements in ataxiatelangiectasia
-
Baloh RW, Yee RD, Boder E (1978) Eye movements in ataxiatelangiectasia. Neurology 28:1099-1104
-
(1978)
Neurology
, vol.28
, pp. 1099-1104
-
-
Baloh, R.W.1
Yee, R.D.2
Boder, E.3
-
59
-
-
0023215942
-
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: Another hexosaminidase A deficiency syndrome
-
Harding AE, Young EP, Schon F (1987) Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome. J Neurol Neurosurg Psychiatry 50:687-690
-
(1987)
J Neurol Neurosurg Psychiatry
, vol.50
, pp. 687-690
-
-
Harding, A.E.1
Young, E.P.2
Schon, F.3
-
61
-
-
0030040890
-
Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestations
-
Steiner RD, Sweetser DA, Rohrbaugh JR, Dowton SB, Toone JR, Applegarth DA (1996) Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations. J Pediatr 128:243-246
-
(1996)
J Pediatr
, vol.128
, pp. 243-246
-
-
Steiner, R.D.1
Sweetser, D.A.2
Rohrbaugh, J.R.3
Dowton, S.B.4
Toone, J.R.5
Applegarth, D.A.6
-
62
-
-
0036714966
-
Leigh-like encephalopathy complicating leber's hereditary optic neuropathy
-
Funalot B, Reynier P, Vighetto A, Ranoux D, Bonnefont JP, Godinot C, Malthièry Y, Mas JL (2002) Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann Neurol 52:374-377
-
(2002)
Ann Neurol
, vol.52
, pp. 374-377
-
-
Funalot, B.1
Reynier, P.2
Vighetto, A.3
Ranoux, D.4
Bonnefont, J.P.5
Godinot, C.6
Malthièry, Y.7
Mas, J.L.8
-
63
-
-
84857038050
-
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity
-
Sundal C, Lash J, Aasly J, Øygarden S, Roeber S, Kretzschman H, Garbern JY, Tselis A, Rademakers R, Dickson DW, Broderick D, Wszolek ZK (2012) Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci 314:130-137
-
(2012)
J Neurol Sci
, vol.314
, pp. 130-137
-
-
Sundal, C.1
Lash, J.2
Aasly, J.3
Øygarden, S.4
Roeber, S.5
Kretzschman, H.6
Garbern, J.Y.7
Tselis, A.8
Rademakers, R.9
Dickson, D.W.10
Broderick, D.11
Wszolek, Z.K.12
-
64
-
-
0025273373
-
The pretectal syndrome: 206 patients
-
Keane JR (1990) The pretectal syndrome: 206 patients. Neurology 40:684-690
-
(1990)
Neurology
, vol.40
, pp. 684-690
-
-
Keane, J.R.1
-
65
-
-
34548845045
-
Progressive supranuclear gaze palsy without parkinsonism: A case of neuro-Whipple
-
Magherini A, Pentore R, Grandi M, Leone ME, Nichelli PF (2007) Progressive supranuclear gaze palsy without parkinsonism: a case of neuro-Whipple. Parkinsonism Relat Disord 13:449-452
-
(2007)
Parkinsonism Relat Disord
, vol.13
, pp. 449-452
-
-
Magherini, A.1
Pentore, R.2
Grandi, M.3
Leone, M.E.4
Nichelli, P.F.5
-
66
-
-
79953901366
-
Narcolepsy, REM sleep behavior disorder, and supranuclear gaze palsy associated with Ma1 and Ma2 antibodies and tonsillar carcinoma
-
Adams C, McKeon A, Silber MH, Kumar R (2011) Narcolepsy, REM sleep behavior disorder, and supranuclear gaze palsy associated with Ma1 and Ma2 antibodies and tonsillar carcinoma. Arch Neurol 68:521-524
-
(2011)
Arch Neurol
, vol.68
, pp. 521-524
-
-
Adams, C.1
McKeon, A.2
Silber, M.H.3
Kumar, R.4
-
67
-
-
67649421514
-
Stiff eyes in stiff-person syndrome
-
Oskarsson B, Pelak V, Quan D, Hall D, Foster C, Galetta S (2008) Stiff eyes in stiff-person syndrome. Neurology 71:378-380
-
(2008)
Neurology
, vol.71
, pp. 378-380
-
-
Oskarsson, B.1
Pelak, V.2
Quan, D.3
Hall, D.4
Foster, C.5
Galetta, S.6
-
68
-
-
41849134373
-
Saccadic palsy after cardiac surgery: Characteristics and pathogenesis
-
Solomon D, Ramat S, Tomsak RL, Reich SG, Shin RK, Zee DS, Leigh RJ (2008) Saccadic palsy after cardiac surgery: characteristics and pathogenesis. Ann Neurol 63:355-365
-
(2008)
Ann Neurol
, vol.63
, pp. 355-365
-
-
Solomon, D.1
Ramat, S.2
Tomsak, R.L.3
Reich, S.G.4
Shin, R.K.5
Zee, D.S.6
Leigh, R.J.7
-
69
-
-
37349104245
-
Vertical gaze palsy after thalamic stimulation for Tourette syndrome: Case report
-
Ackermans L, Temel Y, Bauer NJ, Visser-Vandewalle V, Dutch-Flemish Tourette Surgery Study Group (2007) Vertical gaze palsy after thalamic stimulation for Tourette syndrome: case report. Neurosurgery 61:E1100
-
(2007)
Neurosurgery
, vol.61
-
-
Ackermans, L.1
Temel, Y.2
Bauer, N.J.3
Visser-Vandewalle, V.4
-
70
-
-
0018093531
-
The supranuclear disturbances of gaze in kernicterus
-
Hoyt CS, Billson FA, Alpins N (1978) The supranuclear disturbances of gaze in kernicterus. Ann Ophthalmol 10:1487-1492
-
(1978)
Ann Ophthalmol
, vol.10
, pp. 1487-1492
-
-
Hoyt, C.S.1
Billson, F.A.2
Alpins, N.3
-
71
-
-
0032949393
-
Manganese intoxication during total parenteral nutrition: Report of two cases and review of the literature
-
Nagatomo S, Umehara F, Hanada K, Nobuhara Y, Takenaga S, Arimura K, Osame M (1999) Manganese intoxication during total parenteral nutrition: report of two cases and review of the literature. J Neurol Sci 162:102-105
-
(1999)
J Neurol Sci
, vol.162
, pp. 102-105
-
-
Nagatomo, S.1
Umehara, F.2
Hanada, K.3
Nobuhara, Y.4
Takenaga, S.5
Arimura, K.6
Osame, M.7
-
72
-
-
0021248297
-
Paralysis of upward gaze as a presenting symptom of vitamin B12 deficiency
-
Sandyk R (1984) Paralysis of upward gaze as a presenting symptom of vitamin B12 deficiency. Eur Neurol 23:198-200
-
(1984)
Eur Neurol
, vol.23
, pp. 198-200
-
-
Sandyk, R.1
-
73
-
-
0342527698
-
Sporadic cerebellar ataxia associated with gluten sensitivity
-
Bürk K, Bösch S, Müller CA, Melms A, Zühlke C, Stern M, Besenthal I, Skalej M, Ruck P, Ferber S, Klockgether T, Dichgans J (2001) Sporadic cerebellar ataxia associated with gluten sensitivity. Brain 124:1013-1019
-
(2001)
Brain
, vol.124
, pp. 1013-1019
-
-
Bürk, K.1
Bösch, S.2
Müller, C.A.3
Melms, A.4
Zühlke, C.5
Stern, M.6
Besenthal, I.7
Skalej, M.8
Ruck, P.9
Ferber, S.10
Klockgether, T.11
Dichgans, J.12
-
74
-
-
64049106582
-
Spontaneous intracranial hypotension presenting as a reversible dorsal midbrain syndrome
-
Fedi M, Cantello R, Shuey NH, Mitchell LA, Comi C, Monaco F, Versino M (2008) Spontaneous intracranial hypotension presenting as a reversible dorsal midbrain syndrome. J Neuroophthalmol 28:289-292
-
(2008)
J Neuroophthalmol
, vol.28
, pp. 289-292
-
-
Fedi, M.1
Cantello, R.2
Shuey, N.H.3
Mitchell, L.A.4
Comi, C.5
Monaco, F.6
Versino, M.7
-
75
-
-
0020385968
-
Upward gaze paralysis as the initial sign of Fisher's syndrome
-
Keane JR, Finstead BA (1982) Upward gaze paralysis as the initial sign of Fisher's syndrome. Arch Neurol 39:781-782
-
(1982)
Arch Neurol
, vol.39
, pp. 781-782
-
-
Keane, J.R.1
Finstead, B.A.2
-
76
-
-
0029882885
-
Acute paresis of extraocular muscles associated with IgG anti-GQ1b antibody
-
Yuki N (1996) Acute paresis of extraocular muscles associated with IgG anti-GQ1b antibody. Ann Neurol 39:668-672
-
(1996)
Ann Neurol
, vol.39
, pp. 668-672
-
-
Yuki, N.1
-
77
-
-
37349042223
-
Pearls and oy-sters of localization in ophthalmoparesis
-
Buracchio T, Rucker JC (2007) Pearls and oy-sters of localization in ophthalmoparesis. Neurology 69:E35-E40
-
(2007)
Neurology
, vol.69
-
-
Buracchio, T.1
Rucker, J.C.2
|