-
1
-
-
62149099955
-
Clinical and genetic delineation of neurodegeneration with brain iron accumulation
-
Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 2009; 46: 73-80
-
(2009)
J Med Genet
, vol.46
, pp. 73-80
-
-
Gregory, A.1
Polster, B.J.2
Hayflick, S.J.3
-
2
-
-
51849174137
-
Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra: ein Beitrag zu den Beziehungen zwischen diesen beiden Zentren
-
Hallervorden J, Spatz H. Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra: ein Beitrag zu den Beziehungen zwischen diesen beiden Zentren. Z Ges Neurol Psychiat 1922; 79: 254-302
-
(1922)
Z Ges Neurol Psychiat
, vol.79
, pp. 254-302
-
-
Hallervorden, J.1
Spatz, H.2
-
3
-
-
0007950753
-
Eine unbekannte Form von infantiler lipoid-Speicher Krankheit des Gehirns. Eine unbekannte Form von infantiler lipoid-Speicher Krankheit des Gehirns
-
Seitelberger F. Eine unbekannte Form von infantiler lipoid-Speicher Krankheit des Gehirns. Eine unbekannte Form von infantiler lipoid-Speicher Krankheit des Gehirns. Proceedings of the 1st International Congress of Neuropathology 1952; 3: 323
-
(1952)
Proceedings of the 1st International Congress of Neuropathology
, vol.3
, pp. 323
-
-
Seitelberger, F.1
-
4
-
-
0000928982
-
Neuroaxonal dystrophy: its relation to aging and neurological diseases. In Extrapyramidal Disorders
-
Eds PJ Vinken, GW Bruyn, HL Klawans. Amsterdam: Elsevier Science Publishers BV
-
Seitelberger F. Neuroaxonal dystrophy: its relation to aging and neurological diseases. In Extrapyramidal Disorders. In Handbook of Clinical Neurology Vol. 5 (49). Eds PJ Vinken, GW Bruyn, HL Klawans Amsterdam: Elsevier Science Publishers BV, 1986; 391-415
-
(1986)
Handbook of Clinical Neurology
, vol.5
, Issue.49
, pp. 391-415
-
-
Seitelberger, F.1
-
6
-
-
70350075052
-
Psychiatric disorder in two siblings with Hallervorden-Spatz disease
-
Sunwoo YK, Lee JS, Kim WH, Shin YB, Lee MJ, Cho IH, Ock SM. Psychiatric disorder in two siblings with Hallervorden-Spatz disease. Psychiatry Investig 2009; 6: 226-9
-
(2009)
Psychiatry Investig
, vol.6
, pp. 226-229
-
-
Sunwoo, Y.K.1
Lee, J.S.2
Kim, W.H.3
Shin, Y.B.4
Lee, M.J.5
Cho, I.H.6
Ock, S.M.7
-
7
-
-
0015889703
-
Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Ultrastructural observations, anatomical pathology and nosology
-
Defendini R, Markesbery WR, Mastri AR, Duffy PE. Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Ultrastructural observations, anatomical pathology and nosology. J Neurol Sci 1973; 20: 7-23
-
(1973)
J Neurol Sci
, vol.20
, pp. 7-23
-
-
Defendini, R.1
Markesbery, W.R.2
Mastri, A.R.3
Duffy, P.E.4
-
8
-
-
0027396957
-
Hallervorden-Spatz disease: MR and pathologic findings
-
Savoiardo M, Halliday WC, Nardocci N, Strada L, D'Incerti L, Angelini L, Rumi V, Tesoro-Tess JD. Hallervorden-Spatz disease: MR and pathologic findings. AJNR Am J Neuroradiol 1993; 14: 155-62
-
(1993)
AJNR Am J Neuroradiol
, vol.14
, pp. 155-162
-
-
Savoiardo, M.1
Halliday, W.C.2
Nardocci, N.3
Strada, L.4
D'Incerti, L.5
Angelini, L.6
Rumi, V.7
Tesoro-Tess, J.D.8
-
9
-
-
17444391231
-
Hallervorden spatz disease: MR and pathological findings of a rare case
-
Sharma MC, Aggarwal N, Bihari M, Goyal V, Gaikwed S, Vaishya S, Sarkar C. Hallervorden spatz disease: MR and pathological findings of a rare case. Neurol India 2005; 53: 102-4
-
(2005)
Neurol India
, vol.53
, pp. 102-104
-
-
Sharma, M.C.1
Aggarwal, N.2
Bihari, M.3
Goyal, V.4
Gaikwed, S.5
Vaishya, S.6
Sarkar, C.7
-
10
-
-
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: 345-9
-
(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
-
11
-
-
0037413484
-
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
-
Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J. 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
Zhou, B.4
Johnson, M.A.5
Ching, K.H.6
Gitschier, J.7
-
12
-
-
38549152194
-
Principles of bioactive lipid signalling: lessons from sphingolipids
-
Hannun YA, Obeid LM. Principles of bioactive lipid signalling: lessons from sphingolipids. Nat Rev Mol Cell Biol 2008; 9: 139-50
-
(2008)
Nat Rev Mol Cell Biol
, vol.9
, pp. 139-150
-
-
Hannun, Y.A.1
Obeid, L.M.2
-
13
-
-
0037322485
-
An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria
-
Hortnagel K, Prokisch H, Meitinger T. An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. Hum Mol Genet 2003; 12: 321-7
-
(2003)
Hum Mol Genet
, vol.12
, pp. 321-327
-
-
Hortnagel, K.1
Prokisch, H.2
Meitinger, T.3
-
14
-
-
33747404210
-
Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations
-
Hayflick SJ, Hartman M, Coryell J, Gitschier J, Rowley H. Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol 2006; 27: 1230-3
-
(2006)
AJNR Am J Neuroradiol
, vol.27
, pp. 1230-1233
-
-
Hayflick, S.J.1
Hartman, M.2
Coryell, J.3
Gitschier, J.4
Rowley, H.5
-
15
-
-
0023680976
-
MR imaging of a group I case of Hallervorden-Spatz disease
-
Mutoh K, Okuno T, Ito M, Nakano S, Mikawa H, Fujisawa I, Asato R. MR imaging of a group I case of Hallervorden-Spatz disease. J Comput Assist Tomogr 1988; 12: 851-3
-
(1988)
J Comput Assist Tomogr
, vol.12
, pp. 851-853
-
-
Mutoh, K.1
Okuno, T.2
Ito, M.3
Nakano, S.4
Mikawa, H.5
Fujisawa, I.6
Asato, R.7
-
16
-
-
0023780837
-
Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations
-
Sethi KD, Adams RJ, Loring DW, el Gammal T. Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations. Ann Neurol 1988; 24: 692-4
-
(1988)
Ann Neurol
, vol.24
, pp. 692-694
-
-
Sethi, K.D.1
Adams, R.J.2
Loring, D.W.3
el Gammal, T.4
-
17
-
-
42949158787
-
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
-
McNeill A, Birchall D, Hayflick SJ, Gregory A, Schenk JF, Zimmerman EA, Shang H, Miyajima H, Chinnery PF. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 2008; 70: 1614-19
-
(2008)
Neurology
, vol.70
, pp. 1614-1619
-
-
McNeill, A.1
Birchall, D.2
Hayflick, S.J.3
Gregory, A.4
Schenk, J.F.5
Zimmerman, E.A.6
Shang, H.7
Miyajima, H.8
Chinnery, P.F.9
-
18
-
-
0028895749
-
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
-
Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, Morita H, Hiyamuta S, Ikeda S, Shimizu N, Yanagisawa N. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995; 9: 267-72
-
(1995)
Nat Genet
, vol.9
, pp. 267-272
-
-
Yoshida, K.1
Furihata, K.2
Takeda, S.3
Nakamura, A.4
Yamamoto, K.5
Morita, H.6
Hiyamuta, S.7
Ikeda, S.8
Shimizu, N.9
Yanagisawa, N.10
-
19
-
-
0034941118
-
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
-
Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001; 28: 350-4
-
(2001)
Nat Genet
, vol.28
, pp. 350-354
-
-
Curtis, A.R.1
Fey, C.2
Morris, C.M.3
Bindoff, L.A.4
Ince, P.G.5
Chinnery, P.F.6
Coulthard, A.7
Jackson, M.J.8
Jackson, A.P.9
McHale, D.P.10
Hay, D.11
Barker, W.A.12
Markham, A.F.13
Bates, D.14
Curtis, A.15
Burn, J.16
-
20
-
-
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 2000; 100: 568-74
-
(2000)
Acta Neuropathol
, vol.100
, pp. 568-574
-
-
Neumann, M.1
Adler, S.2
Schluter, O.3
Kremmer, E.4
Benecke, R.5
Kretzschmar, H.A.6
-
21
-
-
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, Koide R, Horikawa Y, Morita T, Takahashi H. 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: 363-8
-
(1999)
Neuropathol Appl Neurobiol
, vol.25
, pp. 363-368
-
-
Wakabayashi, K.1
Yoshimoto, M.2
Fukushima, T.3
Koide, R.4
Horikawa, Y.5
Morita, T.6
Takahashi, H.7
-
22
-
-
0023198523
-
Adult onset Hallervorden-Spatz disease with neurofibrillary pathology. A discrete clinicopathological entity
-
Eidelberg D, Sotrel A, Joachim C, Selkoe D, Forman A, Pendlebury WW, Perl DP. 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
Selkoe, D.4
Forman, A.5
Pendlebury, W.W.6
Perl, D.P.7
-
23
-
-
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 1983; 61: 169-72
-
(1983)
Acta Neuropathol
, vol.61
, pp. 169-172
-
-
Hartmann, H.A.1
White, S.K.2
Levine, R.L.3
-
24
-
-
55949119836
-
Emerging pathways in genetic Parkinson's disease: potential role of ceramide metabolism in Lewy body disease
-
Bras J, Singleton A, Cookson MR, Hardy J. Emerging pathways in genetic Parkinson's disease: potential role of ceramide metabolism in Lewy body disease. FEBS J 2008; 275: 5767-73
-
(2008)
FEBS J
, vol.275
, pp. 5767-5773
-
-
Bras, J.1
Singleton, A.2
Cookson, M.R.3
Hardy, J.4
-
25
-
-
84940364788
-
Alpha-synuclein and the Lewy body disorders
-
Dickson DW. Alpha-synuclein and the Lewy body disorders. Curr Opin Neurol 2001; 14: 423-32
-
(2001)
Curr Opin Neurol
, vol.14
, pp. 423-432
-
-
Dickson, D.W.1
-
26
-
-
58149229973
-
Neurodegeneration associated with genetic defects in phospholipase A(2)
-
Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ. Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology 2008; 71: 1402-9
-
(2008)
Neurology
, vol.71
, pp. 1402-1409
-
-
Gregory, A.1
Westaway, S.K.2
Holm, I.E.3
Kotzbauer, P.T.4
Hogarth, P.5
Sonek, S.6
Coryell, J.C.7
Nguyen, T.M.8
Nardocci, N.9
Zorzi, G.10
Rodriguez, D.11
Desguerre, I.12
Bertini, E.13
Simonati, A.14
Levinson, B.15
Dias, C.16
Barbot, C.17
Carrilho, I.18
Santos, M.19
Malik, I.20
Gitschier, J.21
Hayflick, S.J.22
more..
-
27
-
-
84856964851
-
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations
-
Paisan-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T, Houlden H. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging 2012; 33: 814-23
-
(2012)
Neurobiol Aging
, vol.33
, pp. 814-823
-
-
Paisan-Ruiz, C.1
Li, A.2
Schneider, S.A.3
Holton, J.L.4
Johnson, R.5
Kidd, D.6
Chataway, J.7
Bhatia, K.P.8
Lees, A.J.9
Hardy, J.10
Revesz, T.11
Houlden, H.12
-
28
-
-
79953665042
-
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration
-
Kruer MC, Hiken M, Gregory A, Malandrini A, Clark D, Hogarth P, Grafe M, Hayflick SJ, Woltjer RL. Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain 2011; 134: 947-58
-
(2011)
Brain
, vol.134
, pp. 947-958
-
-
Kruer, M.C.1
Hiken, M.2
Gregory, A.3
Malandrini, A.4
Clark, D.5
Hogarth, P.6
Grafe, M.7
Hayflick, S.J.8
Woltjer, R.L.9
-
29
-
-
33745553895
-
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
-
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet 2006; 38: 752-4
-
(2006)
Nat Genet
, vol.38
, pp. 752-754
-
-
Morgan, N.V.1
Westaway, S.K.2
Morton, J.E.3
Gregory, A.4
Gissen, P.5
Sonek, S.6
Cangul, H.7
Coryell, J.8
Canham, N.9
Nardocci, N.10
Zorzi, G.11
Pasha, S.12
Rodriguez, D.13
Desguerre, I.14
Mubaidin, A.15
Bertini, E.16
Trembath, R.C.17
Simonati, A.18
Schanen, C.19
Johnson, C.A.20
Levinson, B.21
Woods, C.G.22
Wilmot, B.23
Kramer, P.24
Gitschier, J.25
Maher, E.R.26
Hayflick, S.J.27
more..
-
30
-
-
12344334370
-
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
-
Kuo YM, Duncan JL, Westaway SK, Yang H, Nune G, Xu EY, Hayflick SJ, Gitschier J. Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Hum Mol Genet 2005; 14: 49-57
-
(2005)
Hum Mol Genet
, vol.14
, pp. 49-57
-
-
Kuo, Y.M.1
Duncan, J.L.2
Westaway, S.K.3
Yang, H.4
Nune, G.5
Xu, E.Y.6
Hayflick, S.J.7
Gitschier, J.8
-
31
-
-
39549085125
-
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations
-
Malik I, Turk J, Mancuso DJ, Montier L, Wohltmann M, Wozniak DF, Schmidt RE, Gross RW, Kotzbauer PT. Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. Am J Pathol 2008; 172: 406-16
-
(2008)
Am J Pathol
, vol.172
, pp. 406-416
-
-
Malik, I.1
Turk, J.2
Mancuso, D.J.3
Montier, L.4
Wohltmann, M.5
Wozniak, D.F.6
Schmidt, R.E.7
Gross, R.W.8
Kotzbauer, P.T.9
-
32
-
-
39849101072
-
Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease
-
Shinzawa K, Sumi H, Ikawa M, Matsuoka Y, Okabe M, Sakoda S, Tsujimoto Y. Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease. J Neurosci 2008; 28: 2212-20
-
(2008)
J Neurosci
, vol.28
, pp. 2212-2220
-
-
Shinzawa, K.1
Sumi, H.2
Ikawa, M.3
Matsuoka, Y.4
Okabe, M.5
Sakoda, S.6
Tsujimoto, Y.7
-
33
-
-
0029589683
-
Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy
-
Malandrini A, Cavallaro T, Fabrizi GM, Berti G, Salvestroni R, Salvadori C, Guazzi GC. Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Virchows Arch 1995; 427: 415-21
-
(1995)
Virchows Arch
, vol.427
, pp. 415-421
-
-
Malandrini, A.1
Cavallaro, T.2
Fabrizi, G.M.3
Berti, G.4
Salvestroni, R.5
Salvadori, C.6
Guazzi, G.C.7
-
34
-
-
0014456828
-
Superficial siderosis of the central nervous system. A report on nine cases with autopsy
-
Hughes JT, Oppenheimer DR. Superficial siderosis of the central nervous system. A report on nine cases with autopsy. Acta Neuropathol 1969; 13: 56-74
-
(1969)
Acta Neuropathol
, vol.13
, pp. 56-74
-
-
Hughes, J.T.1
Oppenheimer, D.R.2
-
35
-
-
0023751589
-
Superficial siderosis of the central nervous system presenting with long-standing deafness
-
Revesz T, Barnard RO, Earl CJ. Superficial siderosis of the central nervous system presenting with long-standing deafness. J R Soc Med 1988; 81: 479-81
-
(1988)
J R Soc Med
, vol.81
, pp. 479-481
-
-
Revesz, T.1
Barnard, R.O.2
Earl, C.J.3
-
36
-
-
67650077008
-
Transmission and spreading of tauopathy in transgenic mouse brain
-
Clavaguera F, Bolmont T, Crowther RA, Abramowski D, Frank S, Probst A, Fraser G, Stalder AK, Beibel M, Staufenbiel M, Jucker M, Goedert M, Tolnay M. Transmission and spreading of tauopathy in transgenic mouse brain. Nat Cell Biol 2009; 11: 909-13
-
(2009)
Nat Cell Biol
, vol.11
, pp. 909-913
-
-
Clavaguera, F.1
Bolmont, T.2
Crowther, R.A.3
Abramowski, D.4
Frank, S.5
Probst, A.6
Fraser, G.7
Stalder, A.K.8
Beibel, M.9
Staufenbiel, M.10
Jucker, M.11
Goedert, M.12
Tolnay, M.13
-
37
-
-
12744280679
-
Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2
-
Kotzbauer PT, Truax AC, Trojanowski JQ, Lee VM. Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2. J Neurosci 2005; 25: 689-98
-
(2005)
J Neurosci
, vol.25
, pp. 689-698
-
-
Kotzbauer, P.T.1
Truax, A.C.2
Trojanowski, J.Q.3
Lee, V.M.4
|