-
1
-
-
0001216951
-
A new phenotype (McLeod) in the Kell bloodgroup system
-
Allen FH Jr, Krabbe SM, Corcoran PA (1961) A new phenotype (McLeod) in the Kell bloodgroup system. Vox Sang 6:555-560
-
(1961)
Vox Sang
, vol.6
, pp. 555-560
-
-
Allen, F.H.1
Krabbe, S.M.2
Corcoran, P.A.3
-
2
-
-
0001327424
-
Malformation of the erythrocytes in a case of atypical retinitis pigmentosa
-
Bassen FA, Kornzweig AL (1950) Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 5:381-387
-
(1950)
Blood
, vol.5
, pp. 381-387
-
-
Bassen, F.A.1
Kornzweig, A.L.2
-
3
-
-
0037062571
-
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration
-
Ching KH, Westaway SK, Gitschier J Higgins JJ, Hayflick SJ (2002) HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. J Neurol 58:1673-1674
-
(2002)
J Neurol
, vol.58
, pp. 1673-1674
-
-
Ching, K.H.1
Westaway, S.K.2
Gitschier, J.3
Higgins, J.J.4
Hayflick, S.J.5
-
4
-
-
0014247784
-
Acanthocytosis and neurological disorder without betalipoproteinemia
-
Critchley EM, Clark DB, Wikler A (1968) Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol 18:134-140
-
(1968)
Arch Neurol
, vol.18
, pp. 134-140
-
-
Critchley, E.M.1
Clark, D.B.2
Wikler, A.3
-
6
-
-
0026073577
-
Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases
-
Hardie RJ, Pullon HW, Harding AE, Owen JS, Pires M, Daniels, GL, Imai Y, Misra VP, King RH, Jacobs JM (1991) Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114(Pt 1A):13-49
-
(1991)
Brain
, vol.114
, pp. 13-49
-
-
Hardie, R.J.1
Pullon, H.W.2
Harding, A.E.3
Owen, J.S.4
Pires, M.5
Daniels, G.L.6
Imai, Y.7
Misra, V.P.8
King, R.H.9
Jacobs, J.M.10
-
7
-
-
0037413484
-
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
-
Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J (2003) Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 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
-
8
-
-
0028263898
-
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
-
Ho M, Chelly J, Carter N, Danek A, Crocker P, Monaco AP (1994) Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 77:869-880
-
(1994)
Cell
, vol.77
, pp. 869-880
-
-
Ho, M.1
Chelly, J.2
Carter, N.3
Danek, A.4
Crocker, P.5
Monaco, A.P.6
-
9
-
-
0029928980
-
A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis
-
Ho MF, Chalmers RM, Davis MB, Harding AE, Monaco AP (1996) A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. Ann Neurol 39:672-675
-
(1996)
Ann Neurol
, vol.39
, pp. 672-675
-
-
Ho, M.F.1
Chalmers, R.M.2
Davis, M.B.3
Harding, A.E.4
Monaco, A.P.5
-
10
-
-
0344011470
-
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
-
Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW (2003) Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. Neurology 61:1423-1426
-
(2003)
Neurology
, vol.61
, pp. 1423-1426
-
-
Houlden, H.1
Lincoln, S.2
Farrer, M.3
Cleland, P.G.4
Hardy, J.5
Orrell, R.W.6
-
11
-
-
0030022465
-
The pattern of cognitive impairments in neuroacanthocytosis. A frontosubcortical dementia
-
Kartsounis LD, Hardie RJ (1996) The pattern of cognitive impairments in neuroacanthocytosis. A frontosubcortical dementia. Arch Neurol 53:77-80
-
(1996)
Arch Neurol
, vol.53
, pp. 77-80
-
-
Kartsounis, L.D.1
Hardie, R.J.2
-
12
-
-
0029074422
-
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: A report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome)
-
Orrell RW, Amrolia PJ, Heald A, Cleland PG, Owen JS, Morgan-Hughes JA, Harding AE, Marsden CD (1995) Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). Neurology 45:487-492
-
(1995)
Neurology
, vol.45
, pp. 487-492
-
-
Orrell, R.W.1
Amrolia, P.J.2
Heald, A.3
Cleland, P.G.4
Owen, J.S.5
Morgan-Hughes, J.A.6
Harding, A.E.7
Marsden, C.D.8
-
13
-
-
21044449726
-
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
-
Pellecchia MT, Valente EM, Cif L, Salvi, S, Albanese, A, Scarano, V, Bonuccelli, U, Bentivoglio, AR, D'Amico, A, Marelli, C, Di, Giorgio A, Coubes, P, Barone, P, and Dallapiccola, B (2005) The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. Neurology 64:1810-1812
-
(2005)
Neurology
, vol.64
, pp. 1810-1812
-
-
Pellecchia, M.T.1
Valente, E.M.2
Cif, L.3
Salvi, S.4
Albanese, A.5
Scarano, V.6
Bonuccelli, U.7
Bentivoglio, A.R.8
D'Amico, A.9
Marelli, C.10
Di, G.A.11
Coubes, P.12
Barone, P.13
Dallapiccola, B.14
-
14
-
-
0034972973
-
A conserved sortingassociated protein is mutant in chorea-acanthocytosis
-
Rampoldi L, Dobson-Stone C, Rubio JP, Danek, A, Chalmers, RM, Wood, NW, Verellen, C, Ferrer, X, Malandrini, A, Fabrizi, GM, Brown, R, Vance, J, Pericak-Vance, M, Rudolf, G, Carre, S, Alonso, E, Manfredi, M, Nemeth, AH, Monaco, AP (2001) A conserved sortingassociated protein is mutant in chorea-acanthocytosis. Nat Genet 28:119-120
-
(2001)
Nat Genet
, vol.28
, pp. 119-120
-
-
Rampoldi, L.1
Dobson-Stone, C.2
Rubio, J.P.3
Danek, A.4
Chalmers, R.M.5
Wood, N.W.6
Verellen, C.7
Ferrer, X.8
Malandrini, A.9
Fabrizi, G.M.10
Brown, R.11
Vance, J.12
Pericak-Vance, M.13
Rudolf, G.14
Carre, S.15
Alonso, E.16
Manfredi, M.17
Nemeth, A.H.18
Monaco, A.P.19
-
15
-
-
0028023515
-
Nigral degeneration in neuroacanthocytosis
-
Rinne JO, Daniel SE, Scaravilli F, Harding, AE, Marsden, CD (1994) Nigral degeneration in neuroacanthocytosis. Neurology 44:1629-1632
-
(1994)
Neurology
, vol.44
, pp. 1629-1632
-
-
Rinne, J.O.1
Daniel, S.E.2
Scaravilli, F.3
Harding, A.E.4
Marsden, C.D.5
-
16
-
-
0028356802
-
The neuropathological features of neuroacanthocytosis
-
Rinne JO, Daniel SE, Scaravilli F, Pires, M, Harding, AE, Marsden, CD (1994) The neuropathological features of neuroacanthocytosis. Mov Disord 9:297-304
-
(1994)
Mov Disord
, vol.9
, pp. 297-304
-
-
Rinne, J.O.1
Daniel, S.E.2
Scaravilli, F.3
Pires, M.4
Harding, A.E.5
Marsden, C.D.6
-
17
-
-
16944362696
-
Chorea-acanthocytosis: Genetic linkage to chromosome 9q21
-
Rubio JP, Danek A, Stone C, Chalmers, R, Wood, N, Verellen, C, Ferrer, X, Malandrini, A, Fabrizi, GM, Manfredi, M, Vance, J, Pericak-Vance, M, Brown, R, Rudolf, G, Picard, F, Alonso, E, Brin, M, Nemeth, AH, Farrall, M, Monaco, AP (1997) Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 61:899-908
-
(1997)
Am J Hum Genet
, vol.61
, pp. 899-908
-
-
Rubio, J.P.1
Danek, A.2
Stone, C.3
Chalmers, R.4
Wood, N.5
Verellen, C.6
Ferrer, X.7
Malandrini, A.8
Fabrizi, G.M.9
Manfredi, M.10
Vance, J.11
Pericak-Vance, M.12
Brown, R.13
Rudolf, G.14
Picard, F.15
Alonso, E.16
Brin, M.17
Nemeth, A.H.18
Farrall, M.19
Monaco, A.P.20
more..
-
18
-
-
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 (2001) A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 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
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