-
1
-
-
16144365391
-
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
-
Taylor TD, Litt M, Kramer P etal. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet 1996; 14: 479-481.
-
(1996)
Nat Genet
, vol.14
, pp. 479-481
-
-
Taylor, T.D.1
Litt, M.2
Kramer, P.3
-
2
-
-
1242295064
-
Neurodegeneration with brain iron accumulation, type 1 (Hallervorden-Spatz disease)
-
In: Dickson D, ed. Basel: ISN Neuropath Press
-
Jellinger KA, Dura J. Neurodegeneration with brain iron accumulation, type 1 (Hallervorden-Spatz disease). In: Dickson D, ed. Pathology & Genetics: Neurodegenerative Diseases. Basel: ISN Neuropath Press, 2003; 394-399.
-
(2003)
Pathology & Genetics: Neurodegenerative Diseases
, pp. 394-399
-
-
Jellinger, K.A.1
Dura, J.2
-
3
-
-
0031721278
-
Lewy body in neurodegeneration with brain iron accumulation type 1 is immunoreactive for alpha-synuclein
-
Arawaka S, Saito Y, Murayama S, Mori H. Lewy body in neurodegeneration with brain iron accumulation type 1 is immunoreactive for alpha-synuclein. Neurology 1998; 51: 887-889.
-
(1998)
Neurology
, vol.51
, pp. 887-889
-
-
Arawaka, S.1
Saito, Y.2
Murayama, S.3
Mori, H.4
-
4
-
-
0034935036
-
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
-
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 2001; 28: 345-349.
-
(2001)
Nat Genet
, vol.28
, pp. 345-349
-
-
Zhou, B.1
Westaway, S.K.2
Levinson, B.3
Johnson, M.A.4
Gitschier, J.5
Hayflick, S.J.6
-
5
-
-
0037000025
-
Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome)
-
Gordon N. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). Eur J Paediatr Neurol 2002; 6: 243-247.
-
(2002)
Eur J Paediatr Neurol
, vol.6
, pp. 243-247
-
-
Gordon, N.1
-
7
-
-
0000637278
-
Neuroaxonal dystrophy: its natural history and related disorders
-
In: Zimmerman H, ed., New York: Grune and Stratton
-
Jellinger K. Neuroaxonal dystrophy: its natural history and related disorders. In: Zimmerman H, ed. Progress in Neuropathology, Vol. 2. New York: Grune and Stratton, 1973; 129-180.
-
(1973)
Progress in Neuropathology
, vol.2
, pp. 129-180
-
-
Jellinger, K.1
-
8
-
-
0016664797
-
Pathogenesis of pigment and spheroid formation in Hallervorden-Spatz syndrome and related disorders
-
Park BE, Netsky MG, Betsill WL Jr. Pathogenesis of pigment and spheroid formation in Hallervorden-Spatz syndrome and related disorders. Neurology 1975; 25: 1172-1178.
-
(1975)
Neurology
, vol.25
, pp. 1172-1178
-
-
Park, B.E.1
Netsky, M.G.2
Betsill Jr, W.L.3
-
9
-
-
0009469176
-
An autopsy case of Hallervorden-Spatz disease with protracted course of about 30 years (in Japanese with English abstract)
-
Fuse S, Inoue K, Iwata M, Mannen T, Toyokura Y. An autopsy case of Hallervorden-Spatz disease with protracted course of about 30 years (in Japanese with English abstract). Neurol Med (Tokyo) 1987; 27: 155-167.
-
(1987)
Neurol Med (Tokyo)
, vol.27
, pp. 155-167
-
-
Fuse, S.1
Inoue, K.2
Iwata, M.3
Mannen, T.4
Toyokura, Y.5
-
10
-
-
0032786711
-
Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonaldystrophy and acute traumatic brain injury
-
Newell KL, Boyer P, Gomez-Tortosa E etal. Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonaldystrophy and acute traumatic brain injury. J Neuropathol Exp Neurol 1999; 58: 1263-1268.
-
(1999)
J Neuropathol Exp Neurol
, vol.58
, pp. 1263-1268
-
-
Newell, K.L.1
Boyer, P.2
Gomez-Tortosa, E.3
-
11
-
-
0032719237
-
Widespread occurrence of alpha-synuclein/NACP-immunoreactive neuronal inclusions in juvenile and adult-onset Hallervorden-Spatz disease with Lewy bodies
-
Wakabayashi K, Yoshimoto M, Fukushima T etal. Widespread occurrence of alpha-synuclein/NACP-immunoreactive neuronal inclusions in juvenile and adult-onset Hallervorden-Spatz disease with Lewy bodies. Neuropathol Appl Neurobiol 1999; 25: 363-368.
-
(1999)
Neuropathol Appl Neurobiol
, vol.25
, pp. 363-368
-
-
Wakabayashi, K.1
Yoshimoto, M.2
Fukushima, T.3
-
12
-
-
0033817296
-
Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies
-
Neumann M, Adler S, Schluter O, Kremmer E, Benecke R, Kretzschmar HA. Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies. Acta Neuropathol (Berl) 2000; 100: 568-574.
-
(2000)
Acta Neuropathol (Berl)
, vol.100
, pp. 568-574
-
-
Neumann, M.1
Adler, S.2
Schluter, O.3
Kremmer, E.4
Benecke, R.5
Kretzschmar, H.A.6
-
13
-
-
0033953962
-
Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology
-
Wakabayashi K, Fukushima T, Koide R etal. Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology. Acta Neuropathol (Berl) 2000; 99: 331-336.
-
(2000)
Acta Neuropathol (Berl)
, vol.99
, pp. 331-336
-
-
Wakabayashi, K.1
Fukushima, T.2
Koide, R.3
-
14
-
-
0034253913
-
Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course
-
Saito Y, Kawai M, Inoue K etal. Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course. J Neurol Sci 2000; 177: 48-59.
-
(2000)
J Neurol Sci
, vol.177
, pp. 48-59
-
-
Saito, Y.1
Kawai, M.2
Inoue, K.3
-
15
-
-
33244469030
-
Tau-predominant-associated pathology in a sporadic late-onset Hallervorden-Spatz syndrome
-
Zarranz JJ, Gómez-Esteban JC, Atarés B, Lezcano E, Forcadas M. Tau-predominant-associated pathology in a sporadic late-onset Hallervorden-Spatz syndrome. Mov Disord 2006; 21: 107-111.
-
(2006)
Mov Disord
, vol.21
, pp. 107-111
-
-
Zarranz, J.J.1
Gómez-Esteban, J.C.2
Atarés, B.3
Lezcano, E.4
Forcadas, M.5
-
16
-
-
0031713491
-
Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein
-
Tu PH, Galvin JE, Baba M etal. Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein. Ann Neurol 1998; 44: 415-422.
-
(1998)
Ann Neurol
, vol.44
, pp. 415-422
-
-
Tu, P.H.1
Galvin, J.E.2
Baba, M.3
-
17
-
-
0018372161
-
Alzheimer neurofibrillary tangles in diseases other than senile and presenile dementia
-
Wisniewski K, Jervis GA, Moretz RC, Wisniewski HM. Alzheimer neurofibrillary tangles in diseases other than senile and presenile dementia. Ann Neurol 1979; 5: 288-294.
-
(1979)
Ann Neurol
, vol.5
, pp. 288-294
-
-
Wisniewski, K.1
Jervis, G.A.2
Moretz, R.C.3
Wisniewski, H.M.4
-
18
-
-
0020629768
-
Neuroaxonal dystrophy with neuromelanin deposition, neurofibrillary tangles, and neuronal loss: light- and electron-microscopic changes in a 45-year-old woman with progressive psychomotor deterioration
-
Hartmann HA, White SK, Levine RL. Neuroaxonal dystrophy with neuromelanin deposition, neurofibrillary tangles, and neuronal loss: light- and electron-microscopic changes in a 45-year-old woman with progressive psychomotor deterioration. Acta Neuropathol (Berl) 1983; 61: 169-172.
-
(1983)
Acta Neuropathol (Berl)
, vol.61
, pp. 169-172
-
-
Hartmann, H.A.1
White, S.K.2
Levine, R.L.3
-
19
-
-
0023198523
-
Adult onset Hallervorden-Spatz disease with neurofibrillary pathology: a discrete clinicopathological entity
-
Eidelberg D, Sotrel A, Joachim C etal. Adult onset Hallervorden-Spatz disease with neurofibrillary pathology: a discrete clinicopathological entity. Brain 1987; 110: 993-1013.
-
(1987)
Brain
, vol.110
, pp. 993-1013
-
-
Eidelberg, D.1
Sotrel, A.2
Joachim, C.3
-
20
-
-
0026032382
-
Pallido-nigro-luysian atrophy, progressive supranuclear palsy and adult onset Hallervorden-Spatz disease: a case of akinesia as a predominant feature of Parkinsonism
-
Yamamoto T, Kawamura J, Hashimoto S etal. Pallido-nigro-luysian atrophy, progressive supranuclear palsy and adult onset Hallervorden-Spatz disease: a case of akinesia as a predominant feature of Parkinsonism. J Neurol Sci 1991; 101: 98-106.
-
(1991)
J Neurol Sci
, vol.101
, pp. 98-106
-
-
Yamamoto, T.1
Kawamura, J.2
Hashimoto, S.3
-
21
-
-
0342601128
-
Early occurrence of Alzheimer's neurofibrillary tangles (NFT) in developmental brain damage and chronic brain diseases with early childhood onset
-
Takada K. Early occurrence of Alzheimer's neurofibrillary tangles (NFT) in developmental brain damage and chronic brain diseases with early childhood onset. Neuropathology 1993; 13: 333-335.
-
(1993)
Neuropathology
, vol.13
, pp. 333-335
-
-
Takada, K.1
-
22
-
-
0029434793
-
The nosology of Hallervorden-spatz disease
-
Halliday W. The nosology of Hallervorden-spatz disease. J Neurol Sci 1995; 134 (Suppl): 84-91.
-
(1995)
J Neurol Sci
, vol.134
, Issue.SUPPL.
, pp. 84-91
-
-
Halliday, W.1
-
23
-
-
0033897338
-
Late adult onset chorea with typical pathology of Hallervorden-Spatz syndrome
-
Grimes DA, Lang AE, Bergeron C. Late adult onset chorea with typical pathology of Hallervorden-Spatz syndrome. J Neurol Neurosurg Psychiatry 2000; 69: 392-395.
-
(2000)
J Neurol Neurosurg Psychiatry
, vol.69
, pp. 392-395
-
-
Grimes, D.A.1
Lang, A.E.2
Bergeron, C.3
-
24
-
-
0025046090
-
Adult onset Hallervorden-Spatz syndrome or Seitelberger's disease with late onset: variants of the same entity? A clinico-pathological study
-
Gaytan-Garcia S, Kaufmann JC, Young GB. Adult onset Hallervorden-Spatz syndrome or Seitelberger's disease with late onset: variants of the same entity? A clinico-pathological study. Clin Neuropathol 1990; 9: 136-142.
-
(1990)
Clin Neuropathol
, vol.9
, pp. 136-142
-
-
Gaytan-Garcia, S.1
Kaufmann, J.C.2
Young, G.B.3
-
25
-
-
0026592466
-
An autopsy case of late infantile and juvenile neuroaxonal dystrophy with diffuse Lewy bodies and neurofibrillary tangles
-
Hayashi S, Akasaki Y, Morimura Y, Takauchi S, Sato M, Miyoshi K. An autopsy case of late infantile and juvenile neuroaxonal dystrophy with diffuse Lewy bodies and neurofibrillary tangles. Clin Neuropathol 1992; 11: 1-5.
-
(1992)
Clin Neuropathol
, vol.11
, pp. 1-5
-
-
Hayashi, S.1
Akasaki, Y.2
Morimura, Y.3
Takauchi, S.4
Sato, M.5
Miyoshi, K.6
-
26
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann M, Sampathu DM, Kwong LK etal. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-133.
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
-
27
-
-
34547733547
-
Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases
-
Nakashima-Yasuda H, Uryu K, Robinson J etal. Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases. Acta Neuropathol 2007; 114: 221-229.
-
(2007)
Acta Neuropathol
, vol.114
, pp. 221-229
-
-
Nakashima-Yasuda, H.1
Uryu, K.2
Robinson, J.3
-
28
-
-
36949036676
-
Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam
-
Geser F, Winton MJ, Kwong LK etal. Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. Acta Neuropathol 2008; 115: 133-145.
-
(2008)
Acta Neuropathol
, vol.115
, pp. 133-145
-
-
Geser, F.1
Winton, M.J.2
Kwong, L.K.3
-
29
-
-
34249709931
-
TDP-43 is deposited in the Guam parkinsonism-dementia complex brains
-
Hasegawa M, Arai T, Akiyama H etal. TDP-43 is deposited in the Guam parkinsonism-dementia complex brains. Brain 2007; 130: 1386-1394.
-
(2007)
Brain
, vol.130
, pp. 1386-1394
-
-
Hasegawa, M.1
Arai, T.2
Akiyama, H.3
-
30
-
-
44649137415
-
Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies
-
Uryu K, Nakashima-Yasuda H, Forman MS etal. Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies. J Neuropathol Exp Neurol 2008; 67: 555-564.
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 555-564
-
-
Uryu, K.1
Nakashima-Yasuda, H.2
Forman, M.S.3
-
31
-
-
70349308579
-
Regional distribution of TDP-43 inclusions in Alzheimer disease (AD) brains: their relation to AD common pathology
-
Kadokura A, Yamazaki T, Lemere CA, Takatama M, Okamoto K. Regional distribution of TDP-43 inclusions in Alzheimer disease (AD) brains: their relation to AD common pathology. Neuropathology 2009; 29: 566-573.
-
(2009)
Neuropathology
, vol.29
, pp. 566-573
-
-
Kadokura, A.1
Yamazaki, T.2
Lemere, C.A.3
Takatama, M.4
Okamoto, K.5
-
32
-
-
0035526326
-
Late-onset neurodegeneration with brain iron accumulation type 1: expanding the clinical spectrum
-
Racette BA, Perry A, D'Avossa G, Perlmutter JS. Late-onset neurodegeneration with brain iron accumulation type 1: expanding the clinical spectrum. Mov Disord 2001; 16: 1148-1152.
-
(2001)
Mov Disord
, vol.16
, pp. 1148-1152
-
-
Racette, B.A.1
Perry, A.2
D'Avossa, G.3
Perlmutter, J.S.4
-
33
-
-
33746693220
-
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations
-
Forman MS, Mackenzie IR, Cairns NJ etal. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol 2006; 65: 571-581.
-
(2006)
J Neuropathol Exp Neurol
, vol.65
, pp. 571-581
-
-
Forman, M.S.1
Mackenzie, I.R.2
Cairns, N.J.3
-
34
-
-
33749668518
-
Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype
-
Mackenzie IR, Baborie A, Pickering-Brown S etal. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol (Berl) 2006; 112: 539-549.
-
(2006)
Acta Neuropathol (Berl)
, vol.112
, pp. 539-549
-
-
Mackenzie, I.R.1
Baborie, A.2
Pickering-Brown, S.3
-
35
-
-
33846076379
-
Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies
-
Sampathu DM, Neumann M, Kwong LK etal. Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol 2006; 169: 1343-1352.
-
(2006)
Am J Pathol
, vol.169
, pp. 1343-1352
-
-
Sampathu, D.M.1
Neumann, M.2
Kwong, L.K.3
-
36
-
-
34447096691
-
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration
-
Cairns NJ, Bigio EH, Mackenzie IR etal. Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol (Berl) 2007; 114: 5-22.
-
(2007)
Acta Neuropathol (Berl)
, vol.114
, pp. 5-22
-
-
Cairns, N.J.1
Bigio, E.H.2
Mackenzie, I.R.3
-
37
-
-
34249949338
-
TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease
-
Amador-Ortiz C, Lin WL, Ahmed Z etal. TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol 2007; 61: 435-445.
-
(2007)
Ann Neurol
, vol.61
, pp. 435-445
-
-
Amador-Ortiz, C.1
Lin, W.L.2
Ahmed, Z.3
-
38
-
-
36348972414
-
Concurrence of TDP-43, tau and alpha-synuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies
-
Higashi S, Iseki E, Yamamoto R etal. Concurrence of TDP-43, tau and alpha-synuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies. Brain Res 2007; 1184: 284-294.
-
(2007)
Brain Res
, vol.1184
, pp. 284-294
-
-
Higashi, S.1
Iseki, E.2
Yamamoto, R.3
-
39
-
-
58149398638
-
Colocalization of TDP-43 and huntingtin in inclusions of Huntington's disease
-
Schwab C, Arai T, Hasegawa M, Yu S, McGeer PL. Colocalization of TDP-43 and huntingtin in inclusions of Huntington's disease. J Neuropathol Exp Neurol 2008; 67: 1159-1165.
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 1159-1165
-
-
Schwab, C.1
Arai, T.2
Hasegawa, M.3
Yu, S.4
McGeer, P.L.5
-
40
-
-
0014987193
-
Neuroaxonal dystrophy: a case of delayed onset and protracted course
-
Rozdilsky B, Bolton CF, Takeda M. Neuroaxonal dystrophy: a case of delayed onset and protracted course. Acta Neuropathol (Berl) 1971; 17: 331-340.
-
(1971)
Acta Neuropathol (Berl)
, vol.17
, pp. 331-340
-
-
Rozdilsky, B.1
Bolton, C.F.2
Takeda, M.3
-
41
-
-
0037413484
-
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
-
Hayflick SJ, Westaway SK, Levinson B etal. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003; 348: 33-40.
-
(2003)
N Engl J Med
, vol.348
, pp. 33-40
-
-
Hayflick, S.J.1
Westaway, S.K.2
Levinson, B.3
-
42
-
-
2342435003
-
Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration
-
Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov Disord 2004; 19: 36-42.
-
(2004)
Mov Disord
, vol.19
, pp. 36-42
-
-
Thomas, M.1
Hayflick, S.J.2
Jankovic, J.3
-
43
-
-
0034845760
-
Iron in the Hallervorden-Spatz syndrome
-
Koeppen AH, Dickson AC. Iron in the Hallervorden-Spatz syndrome. Pediatr Neurol 2001; 25: 148-155.
-
(2001)
Pediatr Neurol
, vol.25
, pp. 148-155
-
-
Koeppen, A.H.1
Dickson, A.C.2
|