-
1
-
-
0002770790
-
Acanthocytosis
-
Goetz C, Tanner C, Aminoff M (eds) Elsevier, Amsterdam
-
Brin M (1993) Acanthocytosis. In: Goetz C, Tanner C, Aminoff M (eds) Handbook of Clinical Neurology. Elsevier, Amsterdam, pp 271-299
-
(1993)
Handbook of Clinical Neurology
, pp. 271-299
-
-
Brin, M.1
-
2
-
-
0035202829
-
McLeod neuroacanthocytosis: Genotype and phenotype
-
Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F, Symmans WA, Oechsner M, Kalckreuth W, Watt JM, Corbett AJ, Hamdalla HH, Marshall AG, Sutton I, Dotti MT, Malandrini A, Walker RH, Daniels G, Monaco AP (2001) McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 50:755-764
-
(2001)
Ann Neurol
, vol.50
, pp. 755-764
-
-
Danek, A.1
Rubio, J.P.2
Rampoldi, L.3
Ho, M.4
Dobson-Stone, C.5
Tison, F.6
Symmans, W.A.7
Oechsner, M.8
Kalckreuth, W.9
Watt, J.M.10
Corbett, A.J.11
Hamdalla, H.H.12
Marshall, A.G.13
Sutton, I.14
Dotti, M.T.15
Malandrini, A.16
Walker, R.H.17
Daniels, G.18
Monaco, A.P.19
-
3
-
-
18744385813
-
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
-
Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupre N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Nemeth A, Monaco AP (2002) Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10: 773-781
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 773-781
-
-
Dobson-Stone, C.1
Danek, A.2
Rampoldi, L.3
Hardie, R.J.4
Chalmers, R.M.5
Wood, N.W.6
Bohlega, S.7
Dotti, M.T.8
Federico, A.9
Shizuka, M.10
Tanaka, M.11
Watanabe, M.12
Ikeda, Y.13
Brin, M.14
Goldfarb, L.G.15
Karp, B.I.16
Mohiddin, S.17
Fananapazir, L.18
Storch, A.19
Fryer, A.E.20
Maddison, P.21
Sibon, I.22
Trevisol-Bittencourt, P.C.23
Singer, C.24
Caballero, I.R.25
Aasly, J.O.26
Schmierer, K.27
Dengler, R.28
Hiersemenzel, L.P.29
Zeviani, M.30
Meiner, V.31
Lossos, A.32
Johnson, S.33
Mercado, F.C.34
Sorrentino, G.35
Dupre, N.36
Rouleau, G.A.37
Volkmann, J.38
Arpa, J.39
Lees, A.40
Geraud, G.41
Chouinard, S.42
Nemeth, A.43
Monaco, A.P.44
more..
-
4
-
-
0026095854
-
Diagnostic tests for choreoacanthocytosis
-
Feinberg TE, Cianci CD, Morrow JS, Pehta JC, Redman CM, Huima T, Koroshetz WJ (1991) Diagnostic tests for choreoacanthocytosis. Neurology 41: 1000-1006
-
(1991)
Neurology
, vol.41
, pp. 1000-1006
-
-
Feinberg, T.E.1
Cianci, C.D.2
Morrow, J.S.3
Pehta, J.C.4
Redman, C.M.5
Huima, T.6
Koroshetz, W.J.7
-
5
-
-
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, et al. (1991) Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114:13-49
-
(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
-
-
0027484398
-
Choreo-acanthocytosis like phenotype without acanthocytes: Clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus
-
Berl
-
Malandrini A, Fabrizi GM, Palmeri S, Ciacci G, Salvadori C, Berti G, Bucalossi A, Federico A, Guazzi GC (1993) Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus. Acta Neuropathol (Berl) 86: 651-658
-
(1993)
Acta Neuropathol
, vol.86
, pp. 651-658
-
-
Malandrini, A.1
Fabrizi, G.M.2
Palmeri, S.3
Ciacci, G.4
Salvadori, C.5
Berti, G.6
Bucalossi, A.7
Federico, A.8
Guazzi, G.C.9
-
8
-
-
0034972973
-
A conserved sorting-associated 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 sorting-associated 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
-
9
-
-
0024425053
-
Effect of phosphatidylserine on the shape of McLeod red cell acanthocytes
-
Redman CM, Huima T, Robbins E, Lee S, Marsh WL (1989) Effect of phosphatidylserine on the shape of McLeod red cell acanthocytes. Blood 74: 1826-1835
-
(1989)
Blood
, vol.74
, pp. 1826-1835
-
-
Redman, C.M.1
Huima, T.2
Robbins, E.3
Lee, S.4
Marsh, W.L.5
-
10
-
-
0019964532
-
Involuntary movements in chorea-acanthocytosis: A comparison with Huntington's chorea
-
Shibasaki H, Sakai T, Nishimura H, Sato Y, Goto I, Kuroiwa Y (1982) Involuntary movements in chorea-acanthocytosis: a comparison with Huntington's chorea. Ann Neurol 12:311-314
-
(1982)
Ann Neurol
, vol.12
, pp. 311-314
-
-
Shibasaki, H.1
Sakai, T.2
Nishimura, H.3
Sato, Y.4
Goto, I.5
Kuroiwa, Y.6
-
11
-
-
0035084427
-
Acanthocytosis and neurological disorders
-
Stevenson VL, Hardie RJ (2001) Acanthocytosis and neurological disorders. J Neurol 248:87-94
-
(2001)
J Neurol
, vol.248
, pp. 87-94
-
-
Stevenson, V.L.1
Hardie, R.J.2
-
12
-
-
0034967701
-
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
-
Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A (2001) The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 28:121-122
-
(2001)
Nat Genet
, vol.28
, pp. 121-122
-
-
Ueno, S.1
Maruki, Y.2
Nakamura, M.3
Tomemori, Y.4
Kamae, K.5
Tanabe, H.6
Yamashita, Y.7
Matsuda, S.8
Kaneko, S.9
Sano, A.10
-
13
-
-
0023491067
-
Chorea-acanthocytosis: A report of three new families and implications for genetic counselling
-
Vance JM, Pericak-Vance MA, Bowman MH, Payne CS, Fredane L, Siddique T, Roses AD, Massey EW (1987) Chorea-acanthocytosis: a report of three new families and implications for genetic counselling. Am J Med Genet 28: 403-410
-
(1987)
Am J Med Genet
, vol.28
, pp. 403-410
-
-
Vance, J.M.1
Pericak-Vance, M.A.2
Bowman, M.H.3
Payne, C.S.4
Fredane, L.5
Siddique, T.6
Roses, A.D.7
Massey, E.W.8
|