-
1
-
-
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
-
2
-
-
51849174137
-
Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra.
-
Hallervorden J, Spatz H. Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra. Z Ges Neurol Psychiatr 1922:79:254-302.
-
(1922)
Z Ges Neurol Psychiatr
, vol.79
, pp. 254-302
-
-
Hallervorden, J.1
Spatz, H.2
-
3
-
-
0026954853
-
Racial hygiene, active euthanasia, and Julius Hallervorden [see comments]
-
Shevell M. Racial hygiene, active euthanasia, and Julius Hallervorden [see comments]. Neurology 1992;42:2214-9.
-
(1992)
Neurology
, vol.42
, pp. 2214-2219
-
-
Shevell, M.1
-
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;28:345-9.
-
(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
-
5
-
-
0028903259
-
Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism
-
Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD. Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci USA 1995;92:2539-43.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 2539-2543
-
-
Harris, Z.L.1
Takahashi, Y.2
Miyajima, H.3
Serizawa, M.4
MacGillivray, R.T.5
Gitlin, J.D.6
-
6
-
-
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
-
7
-
-
33745553895
-
PLA2G6, encoding a phospholipase A(2), 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 A(2), 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..
-
8
-
-
58149229973
-
Neurodegeneration associated with genetic defects in phospholipase A2
-
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 A2. Neurology 2008;71:1042-9.
-
(2008)
Neurology
, vol.71
, pp. 1042-1049
-
-
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..
-
9
-
-
0037062571
-
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration
-
Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology 2002;58:1673-4.
-
(2002)
Neurology
, vol.58
, pp. 1673-1674
-
-
Ching, K.H.1
Westaway, S.K.2
Gitschier, J.3
Higgins, J.J.4
Hayflick, S.J.5
-
10
-
-
0030245792
-
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities
-
Malandrini A, Cesaretti S, Mulinari M, Palmeri S, Fabrizi GM, Villanova M, Parrotta E, Montagnani A, Montagnani M, Anichini M, Guazzi GC. Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. J Neurol Sci 1996;140:129-31.
-
(1996)
J Neurol Sci
, vol.140
, pp. 129-131
-
-
Malandrini, A.1
Cesaretti, S.2
Mulinari, M.3
Palmeri, S.4
Fabrizi, G.M.5
Villanova, M.6
Parrotta, E.7
Montagnani, A.8
Montagnani, M.9
Anichini, M.10
Guazzi, G.C.11
-
11
-
-
0033544428
-
Hallervordern Spatz disease and acanthocytes
-
Muthane UB, Shetty R, Panda K, Yasha TC, Jayakumar PN, Taly AB. Hallervordern Spatz disease and acanthocytes. Neurology 1999;53:32A.
-
(1999)
Neurology
, vol.53
-
-
Muthane, U.B.1
Shetty, R.2
Panda, K.3
Yasha, T.C.4
Jayakumar, P.N.5
Taly, A.B.6
-
13
-
-
0013899820
-
A study of iron metabolism in neuropsychiatric patients. Hallervorden-Spatz disease
-
Szanto J, Gallyas F. A study of iron metabolism in neuropsychiatric patients. Hallervorden-Spatz disease. Arch Neurol 1966;14:438-42.
-
(1966)
Arch Neurol
, vol.14
, pp. 438-442
-
-
Szanto, J.1
Gallyas, F.2
-
14
-
-
0020051428
-
Neuroaxonal dystrophy in young adults: A clinicopathological study of two unrelated cases
-
Williamson K, Sima AA, Curry B, Ludwin SK. Neuroaxonal dystrophy in young adults: a clinicopathological study of two unrelated cases. Ann Neurol 1982;11:335-43.
-
(1982)
Ann Neurol
, vol.11
, pp. 335-343
-
-
Williamson, K.1
Sima, A.A.2
Curry, B.3
Ludwin, S.K.4
-
16
-
-
0020691212
-
Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy
-
Luckenbach MW, Green WR, Miller NR, Moser HW, Clark AW, Tennekoon G. Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy. Am J Ophthalmol 1983;95:369-82.
-
(1983)
Am J Ophthalmol
, vol.95
, pp. 369-382
-
-
Luckenbach, M.W.1
Green, W.R.2
Miller, N.R.3
Moser, H.W.4
Clark, A.W.5
Tennekoon, G.6
-
17
-
-
0018320556
-
-
Newell FW, Johnson ROd, Huttenlocher PR. Pigmentary degeneration of the retina in the Hallervorden-Spatz syndrome. Am J Ophthalmol 1979;88(3 Pt 1):4B7-71.
-
Newell FW, Johnson ROd, Huttenlocher PR. Pigmentary degeneration of the retina in the Hallervorden-Spatz syndrome. Am J Ophthalmol 1979;88(3 Pt 1):4B7-71.
-
-
-
-
18
-
-
0002103025
-
Pigmentary retinal dystrophy in Hallervorden-Spatz disease: Clinicopathological report of a case
-
Roth AM, Hepler RS, Mukoyama M, Cancilla PA, Foos RY. Pigmentary retinal dystrophy in Hallervorden-Spatz disease: clinicopathological report of a case. Survey of Ophthalmology 1971 ;16:24-35.
-
(1971)
Survey of Ophthalmology
, vol.16
, pp. 24-35
-
-
Roth, A.M.1
Hepler, R.S.2
Mukoyama, M.3
Cancilla, P.A.4
Foos, R.Y.5
-
19
-
-
23744440327
-
Neuro-ophthalmologic 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. Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Am J Ophthalmol 2005;140:267-74.
-
(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
-
20
-
-
0026317374
-
Hallervorden-Spatz syndrome and brain iron metabolism
-
Swaiman KF. Hallervorden-Spatz syndrome and brain iron metabolism. Arch Neurol 1991;48:1285-93.
-
(1991)
Arch Neurol
, vol.48
, pp. 1285-1293
-
-
Swaiman, K.F.1
-
21
-
-
34248574213
-
Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration
-
Freeman K, Gregory A, Turner A, Blasco P, Hogarth P, Hayflick S. Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration. J Intellect Disabil Res 2007;51(Pt. B):417-26.
-
(2007)
J Intellect Disabil Res
, vol.51
, Issue.PART. B
, pp. 417-426
-
-
Freeman, K.1
Gregory, A.2
Turner, A.3
Blasco, P.4
Hogarth, P.5
Hayflick, S.6
-
22
-
-
0018629882
-
Infantile neuroaxonal dystrophy
-
Aicardi J, Castelein P. Infantile neuroaxonal dystrophy. Brain 1979;102:727-48.
-
(1979)
Brain
, vol.102
, pp. 727-748
-
-
Aicardi, J.1
Castelein, P.2
-
23
-
-
42949158281
-
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
-
Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 2008;70:1623-9.
-
(2008)
Neurology
, vol.70
, pp. 1623-1629
-
-
Kurian, M.A.1
Morgan, N.V.2
MacPherson, L.3
Foster, K.4
Peake, D.5
Gupta, R.6
Philip, S.G.7
Hendriksz, C.8
Morton, J.E.9
Kingston, H.M.10
Rosser, E.M.11
Wassmer, E.12
Gissen, P.13
Maher, E.R.14
-
24
-
-
0033594368
-
Infantile neuroaxonal dystrophy: Clinical spectrum and diagnostic criteria
-
Nardocci N, Zorzi G, Farina L, Binelli S, Scaioli W, Ciano C, Verga L, Angelini L, Savoiardo M, Bugiani O. Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. Neurology 1999;52:1472- 8.
-
(1999)
Neurology
, vol.52
, pp. 1472-1478
-
-
Nardocci, N.1
Zorzi, G.2
Farina, L.3
Binelli, S.4
Scaioli, W.5
Ciano, C.6
Verga, L.7
Angelini, L.8
Savoiardo, M.9
Bugiani, O.10
-
25
-
-
0015362230
-
Infantile neuro-axonal dystrophy and Hallervorden-Spatz disease. Electro-clinical and anatomo-pathological and differential diagnostic aspects]
-
Radermecker J, Martin JJ. [Infantile neuro-axonal dystrophy and Hallervorden-Spatz disease. Electro-clinical and anatomo-pathological and differential diagnostic aspects]. Bull Acad R Med Belg 1972;12:459-502.
-
(1972)
Bull Acad R Med Belg
, vol.12
, pp. 459-502
-
-
Radermecker, J.1
Martin, J.J.2
-
27
-
-
0038163511
-
Karak syndrome: A novel degenerative disorder of the basal ganglia and cerebellum
-
Mubaidin A, Roberts E, Hampshire D, Dehyyat M, Shurbaji A, Mubaidien M, Jamil A, Al-Din A, Kurdi A, Woods CG. Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. J Med Genet 2003;40:543-6.
-
(2003)
J Med Genet
, vol.40
, pp. 543-546
-
-
Mubaidin, A.1
Roberts, E.2
Hampshire, D.3
Dehyyat, M.4
Shurbaji, A.5
Mubaidien, M.6
Jamil, A.7
Al-Din, A.8
Kurdi, A.9
Woods, C.G.10
-
28
-
-
57449091636
-
Characterization of PLA2G6 as a locus for dystoniaparkinsonism
-
June 20 [Epub ahead of print
-
Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Characterization of PLA2G6 as a locus for dystoniaparkinsonism. Ann Neurol 2008 June 20 [Epub ahead of print].
-
(2008)
Ann Neurol
-
-
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
-
29
-
-
0023628421
-
Magnetic resonance imaging in multiple sclerosis: Decreased signal in thalamus and putamen
-
Drayer BP, Burger P, Hurwitz B, Dawson D, Cain J, Leong J, Herfkens R, Johnson GA. Magnetic resonance imaging in multiple sclerosis: decreased signal in thalamus and putamen. Ann Neurol 1987;22:546- 50.
-
(1987)
Ann Neurol
, vol.22
, pp. 546-550
-
-
Drayer, B.P.1
Burger, P.2
Hurwitz, B.3
Dawson, D.4
Cain, J.5
Leong, J.6
Herfkens, R.7
Johnson, G.A.8
-
30
-
-
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
-
31
-
-
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
-
32
-
-
0023639533
-
MR imaging in a case of Hallervorden-Spatz disease
-
Tanfani G, Mascalchi M, Dal Pozzo GC, Taverni N, Saia A, Trevisan C. MR imaging in a case of Hallervorden-Spatz disease. J Comput Assist Tomogr 1987;11:1057-8.
-
(1987)
J Comput Assist Tomogr
, vol.11
, pp. 1057-1058
-
-
Tanfani, G.1
Mascalchi, M.2
Dal Pozzo, G.C.3
Taverni, N.4
Saia, A.5
Trevisan, C.6
-
33
-
-
0034850470
-
Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome
-
Hayflick SJ, Penzien JM, Michl W, Sharif UM, Rosman NP, Wheeler PG. Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome. Pediatr Neurol 2001;25:166-9.
-
(2001)
Pediatr Neurol
, vol.25
, pp. 166-169
-
-
Hayflick, S.J.1
Penzien, J.M.2
Michl, W.3
Sharif, U.M.4
Rosman, N.P.5
Wheeler, P.G.6
-
34
-
-
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;70:1614-9.
-
(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
-
35
-
-
0032935631
-
Infantile neuroaxonal dystrophy: Neuroradiological studies in 11 patients
-
Farina L, Nardocci N, Bruzzone MG, D'lncerti L, Zorzi G, Verga L, Morbin M, Savoiardo M. Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. Neuroradiology 1999;41:376-80.
-
(1999)
Neuroradiology
, vol.41
, pp. 376-380
-
-
Farina, L.1
Nardocci, N.2
Bruzzone, M.G.3
D'lncerti, L.4
Zorzi, G.5
Verga, L.6
Morbin, M.7
Savoiardo, M.8
-
36
-
-
0023549862
-
Diagnostic difficulties in infantile neuroaxonal dystrophy. A clinicopathological study of eight cases
-
Ramaekers VT, Lake BD, Harding B, Boyd S, Harden A, Brett EM, Wilson J. Diagnostic difficulties in infantile neuroaxonal dystrophy. A clinicopathological study of eight cases. Neuropediatrics 1987;18:170-5.
-
(1987)
Neuropediatrics
, vol.18
, pp. 170-175
-
-
Ramaekers, V.T.1
Lake, B.D.2
Harding, B.3
Boyd, S.4
Harden, A.5
Brett, E.M.6
Wilson, J.7
-
37
-
-
0024524745
-
Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy
-
Barlow JK, Sims KB, Kolodny EH. Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy. Ann Neurol 1989;25:413-5.
-
(1989)
Ann Neurol
, vol.25
, pp. 413-415
-
-
Barlow, J.K.1
Sims, K.B.2
Kolodny, E.H.3
-
38
-
-
0024358726
-
MRI in infantile neuroaxonal dystrophy
-
Ito M, Okuno T, Asato R, Mutoh K, Nakano S, Kataoka K, Fujii T, Mikawa H, Saida K. MRI in infantile neuroaxonal dystrophy. Pediatr Neurol 1989;5:245-8.
-
(1989)
Pediatr Neurol
, vol.5
, pp. 245-248
-
-
Ito, M.1
Okuno, T.2
Asato, R.3
Mutoh, K.4
Nakano, S.5
Kataoka, K.6
Fujii, T.7
Mikawa, H.8
Saida, K.9
-
39
-
-
0027514441
-
The use of magnetic resonance imaging in diagnosing infantile neuroaxonal dystrophy
-
Tanabe Y, lai M, Ishii M, Tamai K, Maemoto T, Ooe K, Takashima S. The use of magnetic resonance imaging in diagnosing infantile neuroaxonal dystrophy. Neurology 1993;43:110-3.
-
(1993)
Neurology
, vol.43
, pp. 110-113
-
-
Tanabe, Y.1
lai, M.2
Ishii, M.3
Tamai, K.4
Maemoto, T.5
Ooe, K.6
Takashima, S.7
-
40
-
-
0031056921
-
Transsynaptic degeneration of lateral geniculate bodies in blind children: In vivo MR demonstration
-
Uggetti C, Egitto MG, Fazzi E, Bianchi PE, Zappoli F, Martelli A, Lanzi G. Transsynaptic degeneration of lateral geniculate bodies in blind children: in vivo MR demonstration. AJNR Am J Neuroradiol 1997;18:233-8.
-
(1997)
AJNR Am J Neuroradiol
, vol.18
, pp. 233-238
-
-
Uggetti, C.1
Egitto, M.G.2
Fazzi, E.3
Bianchi, P.E.4
Zappoli, F.5
Martelli, A.6
Lanzi, G.7
-
41
-
-
0026712244
-
MRI as an aid for diagnosis of infantile neuroaxonal dystrophy]
-
Ishii M, Tanabe Y, Goto M, Sugita K. [MRI as an aid for diagnosis of infantile neuroaxonal dystrophy]. No To Hattatsu 1992;24:491-3.
-
(1992)
No To Hattatsu
, vol.24
, pp. 491-493
-
-
Ishii, M.1
Tanabe, Y.2
Goto, M.3
Sugita, K.4
-
42
-
-
0000637278
-
Neuroaxonal dystrophy: Its natural history and related disorders
-
Zimmerman HM, ed, New York and London: Grune & Stratton
-
Jellinger K. Neuroaxonal dystrophy: its natural history and related disorders. In: Zimmerman HM, ed. Progress in neuropathology, Vol 2. New York and London: Grune & Stratton, 1973:129-80.
-
(1973)
Progress in neuropathology
, vol.2
, pp. 129-180
-
-
Jellinger, K.1
-
43
-
-
0034845760
-
-
Koeppen AH, Dickson AC. Iron in the Hallervorden-Spatz syndrome. Pediatr Neurol 2001;25:148-55.
-
Koeppen AH, Dickson AC. Iron in the Hallervorden-Spatz syndrome. Pediatr Neurol 2001;25:148-55.
-
-
-
-
44
-
-
0001177358
-
Uber eine familiare Erkrankung im extrapyramidalen System.
-
Hallervorden J. Uber eine familiare Erkrankung im extrapyramidalen System. Dtsch Z Nervenheilkd 1924;(81):204-210.
-
(1924)
Dtsch Z Nervenheilkd
, vol.81
, pp. 204-210
-
-
Hallervorden, J.1
-
45
-
-
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;51:887-9.
-
(1998)
Neurology
, vol.51
, pp. 887-889
-
-
Arawaka, S.1
Saito, Y.2
Murayama, S.3
Mori, H.4
-
46
-
-
0033897735
-
Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gammasynuclein neuropathology
-
Galvin JE, Giasson B, Hurtig HI, Lee VM, Trojanowski JQ. Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gammasynuclein neuropathology. Am J Pathol 2000;157:361-8.
-
(2000)
Am J Pathol
, vol.157
, pp. 361-368
-
-
Galvin, J.E.1
Giasson, B.2
Hurtig, H.I.3
Lee, V.M.4
Trojanowski, J.Q.5
-
47
-
-
0033817296
-
Alphasynuclein 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. Alphasynuclein 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 (Beri) 2000;100:568-74.
-
(2000)
Acta Neuropathol (Beri)
, vol.100
, pp. 568-574
-
-
Neumann, M.1
Adler, S.2
Schluter, O.3
Kremmer, E.4
Benecke, R.5
Kretzschmar, H.A.6
-
48
-
-
0032786711
-
Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury
-
Newell KL, Boyer P, Gomez-Tortosa E, Hobbs W, Hedley-Whyte ET, Vonsattel JP, Hyman BT. Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury. J Neuropathol Exp Neurol 1999;58:1263-8.
-
(1999)
J Neuropathol Exp Neurol
, vol.58
, pp. 1263-1268
-
-
Newell, K.L.1
Boyer, P.2
Gomez-Tortosa, E.3
Hobbs, W.4
Hedley-Whyte, E.T.5
Vonsattel, J.P.6
Hyman, B.T.7
-
49
-
-
0026599907
-
An autopsied case of juvenile parkinsonism and dementia, with a widespread occurrence of Lewy bodies and spheroids
-
Odawara T, Iseki E, Yagishita S, Amano N, Kosaka K, Hasegawa K, Matsuda Y, Kowa H. An autopsied case of juvenile parkinsonism and dementia, with a widespread occurrence of Lewy bodies and spheroids. Clinical Neuropathology 1992;11:131-4.
-
(1992)
Clinical Neuropathology
, vol.11
, pp. 131-134
-
-
Odawara, T.1
Iseki, E.2
Yagishita, S.3
Amano, N.4
Kosaka, K.5
Hasegawa, K.6
Matsuda, Y.7
Kowa, H.8
-
50
-
-
0034253913
-
Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course
-
Saito Y, Kawai M, Inoue K, Sasaki R, Arai H, Nanba E, Kuzuhara S, lhara Y, Kanazawa I, Murayama S. 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
Sasaki, R.4
Arai, H.5
Nanba, E.6
Kuzuhara, S.7
lhara, Y.8
Kanazawa, I.9
Murayama, S.10
-
52
-
-
0029836607
-
-
Tuite PJ, Provias JP, Lang AE. Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease. J Neurol Neurosurg Psychiatry 1996;61:523-7.9
-
Tuite PJ, Provias JP, Lang AE. Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease. J Neurol Neurosurg Psychiatry 1996;61:523-7.9
-
-
-
-
53
-
-
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 Neumbiol 1999;25:363-8.
-
(1999)
Neuropathol Appl Neumbiol
, 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
-
54
-
-
33846818915
-
Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine
-
Leonardi R, Rock CO, Jackowski S, Zhang YM. Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine. Proc Natl Acad Sci USA 2007;104:1494-9.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 1494-1499
-
-
Leonardi, R.1
Rock, C.O.2
Jackowski, S.3
Zhang, Y.M.4
-
55
-
-
0004595467
-
Human pantothenate kinase 1 (PANK1) gene: Characterization of the cDNAs, structural organization and mapping of the locus to chromosome 10q23.2-23.31
-
Karim MA, Valentine VA, Jackowski S. Human pantothenate kinase 1 (PANK1) gene: characterization of the cDNAs, structural organization and mapping of the locus to chromosome 10q23.2-23.31. Am J Hum Genet 2000;67:A984.
-
(2000)
Am J Hum Genet
, vol.67
-
-
Karim, M.A.1
Valentine, V.A.2
Jackowski, S.3
-
56
-
-
1842504252
-
Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration
-
Johnson MA, Kuo YM, Westaway SK, Parker SM, Ching KH, Gitschier J, Hayflick SJ. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Ann N Y Acad Sci 2004;1012:282-98.
-
(2004)
Ann N Y Acad Sci
, vol.1012
, pp. 282-298
-
-
Johnson, M.A.1
Kuo, Y.M.2
Westaway, S.K.3
Parker, S.M.4
Ching, K.H.5
Gitschier, J.6
Hayflick, S.J.7
-
57
-
-
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
-
58
-
-
32044455822
-
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
-
Hartig MB, Hortnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol 2006;59:248-56.
-
(2006)
Ann Neurol
, vol.59
, pp. 248-256
-
-
Hartig, M.B.1
Hortnagel, K.2
Garavaglia, B.3
Zorzi, G.4
Kmiec, T.5
Klopstock, T.6
Rostasy, K.7
Svetel, M.8
Kostic, V.S.9
Schuelke, M.10
Botz, E.11
Weindl, A.12
Novakovic, I.13
Nardocci, N.14
Prokisch, H.15
Meitinger, T.16
-
59
-
-
84876875988
-
Intragenic deletion and duplication analysis of the PANK2 and PLA2G6 genes in patients with NBIA
-
Phoenix, Arizona, USA
-
Haverfield EV, Dempsey MA, Gregory A, Westaway SK, Hayflick SJ, Das S. Intragenic deletion and duplication analysis of the PANK2 and PLA2G6 genes in patients with NBIA. ACMG Annual Clinical Genetics Meeting. Phoenix, Arizona, USA, 2008.
-
(2008)
ACMG Annual Clinical Genetics Meeting
-
-
Haverfield, E.V.1
Dempsey, M.A.2
Gregory, A.3
Westaway, S.K.4
Hayflick, S.J.5
Das, S.6
-
60
-
-
34948897631
-
Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder
-
Hong BS, Senisterra G, Rabeh WM, Vedadi M, Leonardi R, Zhang YM, Rock CO, Jackowski S, Park HW. Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder. J Biol Chem 2007;282:27984-93.
-
(2007)
J Biol Chem
, vol.282
, pp. 27984-27993
-
-
Hong, B.S.1
Senisterra, G.2
Rabeh, W.M.3
Vedadi, M.4
Leonardi, R.5
Zhang, Y.M.6
Rock, C.O.7
Jackowski, S.8
Park, H.W.9
-
61
-
-
0033515558
-
Cellular responses to excess phospholipid
-
Baburina I, Jackowski S. Cellular responses to excess phospholipid. J Biol Chem 1999;274:9400-8.
-
(1999)
J Biol Chem
, vol.274
, pp. 9400-9408
-
-
Baburina, I.1
Jackowski, S.2
-
62
-
-
0031983455
-
Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity
-
Larsson PK, Claesson HE, Kennedy BP. Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity. J Biol Chem 1998;273:207-14.
-
(1998)
J Biol Chem
, vol.273
, pp. 207-214
-
-
Larsson, P.K.1
Claesson, H.E.2
Kennedy, B.P.3
-
63
-
-
0014402373
-
Infantile neuroaxonal dystrophy. Early form with preferential cerebellar involvement]
-
Jellinger K, Seitelberger F, Rosenkranz W. [Infantile neuroaxonal dystrophy. Early form with preferential cerebellar involvement]. Acta Neuropathol (Berl) 1968;10:123-31.
-
(1968)
Acta Neuropathol (Berl)
, vol.10
, pp. 123-131
-
-
Jellinger, K.1
Seitelberger, F.2
Rosenkranz, W.3
-
64
-
-
23644462058
-
The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome
-
Baumeister FA, Auer DP, Hortnagel K, Freisinger P, Meitinger T. The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome. Neuropediatrics 2005;36:221-2.
-
(2005)
Neuropediatrics
, vol.36
, pp. 221-222
-
-
Baumeister, F.A.1
Auer, D.P.2
Hortnagel, K.3
Freisinger, P.4
Meitinger, T.5
-
65
-
-
0025012730
-
Follow-up MR studies in Hallervorden-Spatz disease
-
Gallucci M, Cardona F, Arachi M, Splendiani A, Bozzao A, Passariello R. Follow-up MR studies in Hallervorden-Spatz disease. J Comput Assist Tomogr 1990;14:118-20.
-
(1990)
J Comput Assist Tomogr
, vol.14
, pp. 118-120
-
-
Gallucci, M.1
Cardona, F.2
Arachi, M.3
Splendiani, A.4
Bozzao, A.5
Passariello, R.6
-
66
-
-
0001384244
-
Metabolism of glycerolipids. 2. The enzymatic acylation of lysolecithin
-
Lands WE. Metabolism of glycerolipids. 2. The enzymatic acylation of lysolecithin. Biol Chem 1960;235:2233-7.
-
(1960)
Biol Chem
, vol.235
, pp. 2233-2237
-
-
Lands, W.E.1
-
67
-
-
4644267436
-
Role of group VIA calcium-independent phospholipase A2 in arachidonic acid release, phospholipid fatty acid incorporation, and apoptosis in U937 cells responding to hydrogen peroxide
-
Perez R, Melero R, Balboa MA, Balsinde J. Role of group VIA calcium-independent phospholipase A2 in arachidonic acid release, phospholipid fatty acid incorporation, and apoptosis in U937 cells responding to hydrogen peroxide. J Biol Chem 2004;279:40385-91.
-
(2004)
J Biol Chem
, vol.279
, pp. 40385-40391
-
-
Perez, R.1
Melero, R.2
Balboa, M.A.3
Balsinde, J.4
-
68
-
-
18244406794
-
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration
-
Castelnau P, Cif L, Valente EM, Vayssiere N, Hemm S, Gannau A, Digiorgio A, Coubes P. Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. Ann Neurol 2005;57:738-41.
-
(2005)
Ann Neurol
, vol.57
, pp. 738-741
-
-
Castelnau, P.1
Cif, L.2
Valente, E.M.3
Vayssiere, N.4
Hemm, S.5
Gannau, A.6
Digiorgio, A.7
Coubes, P.8
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