-
1
-
-
0032820723
-
Neuroacanthocytosis - The variability of presenting symptoms in two siblings
-
Aasly J, Skandsen T, Ro M (1999) Neuroacanthocytosis - the variability of presenting symptoms in two siblings. Acta Neurol Scand 100:322-325
-
(1999)
Acta Neurol Scand
, vol.100
, pp. 322-325
-
-
Aasly, J.1
Skandsen, T.2
Ro, M.3
-
3
-
-
4243707495
-
Verapamil induces complete remission of the clinical and laboratory findings in a patient with chorea-acanthocytosis
-
Brenes LG, Sanchez MI, Antillon A (1990) Verapamil induces complete remission of the clinical and laboratory findings in a patient with chorea-acanthocytosis. Clin Res 38:93A
-
(1990)
Clin Res
, vol.38
-
-
Brenes, L.G.1
Sanchez, M.I.2
Antillon, A.3
-
4
-
-
0002770790
-
Acanthocytosis
-
Goetz CG, Tanner CM, Aminoff MJ (eds). Elsevier, Amsterdam
-
Brin MF (1993) Acanthocytosis. In: Goetz CG, Tanner CM, Aminoff MJ (eds) Handbook of Clinical Neurology, Vol. 19 (63): Systemic Diseases, Part I. Elsevier, Amsterdam, pp 271-299
-
(1993)
Handbook of Clinical Neurology, Vol. 19 (63): Systemic Diseases, Part I
, vol.19
, Issue.63
, pp. 271-299
-
-
Brin, M.F.1
-
5
-
-
0025734433
-
Presynaptic and postsynaptic striatal dopaminergic function in neuroacanthocytosis: A positron emission tomographic study
-
Brooks DJ, Ibanez V, Playford ED et al. (1991) Presynaptic and postsynaptic striatal dopaminergic function in neuroacanthocytosis: A positron emission tomographic study. Ann Neurol 30:166-171
-
(1991)
Ann Neurol
, vol.30
, pp. 166-171
-
-
Brooks, D.J.1
Ibanez, V.2
Playford, E.D.3
-
6
-
-
0036460943
-
Improvement of severe trunk spasms by bilateral high-frequency stimulation of the motor thalamus in a patient with chorea-acanthocytosis
-
Burbaud P, Rougier A, Ferrer X et al. (2002) Improvement of severe trunk spasms by bilateral high-frequency stimulation of the motor thalamus in a patient with chorea-acanthocytosis. Mov Dis 17:204-207
-
(2002)
Mov Dis
, vol.17
, pp. 204-207
-
-
Burbaud, P.1
Rougier, A.2
Ferrer, X.3
-
7
-
-
0014247784
-
Acanthocytosis and neurological disorder without betalipoproteinemia
-
Critchley EMR, 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.R.1
Clark, D.B.2
Wikler, A.3
-
8
-
-
0034941118
-
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
-
Curtis ARJ, Fey C, Morris CM et al. (2001) Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 28:350-354
-
(2001)
Nat Genet
, vol.28
, pp. 350-354
-
-
Curtis, A.R.J.1
Fey, C.2
Morris, C.M.3
-
9
-
-
0035202829
-
McLeod neuroacanthocytosis: Genotype and phenotype
-
Danek A, Rubio JP, Rampoldi L et al. (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
-
10
-
-
0002446219
-
Cognitive findings in patients with Chorea-Acanthocytosis
-
Danek A, Tierney M, Sheesley L, Grafman J (2001) Cognitive findings in patients with Chorea-Acanthocytosis. Mov Dis 16 [Suppl 1]:30
-
(2001)
Mov Dis
, vol.16
, Issue.SUPPL. 1
, pp. 30
-
-
Danek, A.1
Tierney, M.2
Sheesley, L.3
Grafman, J.4
-
11
-
-
0035470417
-
The chorea of McLeod syndrome
-
Danek A, Tison F, Rubio J, Oechsner M, Kalckreuth W, Monaco AP (2001) The chorea of McLeod syndrome. Mov Dis 16:882-889
-
(2001)
Mov Dis
, vol.16
, pp. 882-889
-
-
Danek, A.1
Tison, F.2
Rubio, J.3
Oechsner, M.4
Kalckreuth, W.5
Monaco, A.P.6
-
12
-
-
0027958727
-
Cerebral involvement in McLeod syndrome
-
Danek A, Uttner I, Vogl T, Tatsch K, Witt TN (1994) Cerebral involvement in McLeod syndrome. Neurology 44:117-120
-
(1994)
Neurology
, vol.44
, pp. 117-120
-
-
Danek, A.1
Uttner, I.2
Vogl, T.3
Tatsch, K.4
Witt, T.N.5
-
13
-
-
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
-
14
-
-
0013875417
-
Huntington-Chorea und chronisch-progressive spinale Muskelatrophie
-
Fotopulos D (1966) Huntington-Chorea und chronisch-progressive spinale Muskelatrophie. Psychiat Neurol Med Psychol (Leipzig) 18:63-71
-
(1966)
Psychiat Neurol Med Psychol (Leipzig)
, vol.18
, pp. 63-71
-
-
Fotopulos, D.1
-
15
-
-
0031409197
-
A case of choreaacanthocytosis successfully treated with posteroventral pallidotomy
-
FujimotoY, Isozaki E, Yokochi F, Yamakawa K, Takahashi H, Hirai S (1997) A case of choreaacanthocytosis successfully treated with posteroventral pallidotomy [Japanisch]. Clin Neurol (Tokyo) 37:891-894
-
(1997)
Clin Neurol (Tokyo)
, vol.37
, pp. 891-894
-
-
Fujimoto, Y.1
Isozaki, E.2
Yokochi, F.3
Yamakawa, K.4
Takahashi, H.5
Hirai, S.6
-
16
-
-
0012445087
-
Chronische, progressive Chorea und spinale Muskelatrophie
-
Grotjahn M (1934) Chronische, progressive Chorea und spinale Muskelatrophie. Zentralbl Ges Neurol Psychiatr 73:251-253
-
(1934)
Zentralbl Ges Neurol Psychiatr
, vol.73
, pp. 251-253
-
-
Grotjahn, M.1
-
17
-
-
0026073577
-
Neuroacanthocytosis: A clinical, haematological and pathological study of 19 cases
-
Hardie RJ, Pullon HWH, Harding AE 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.H.2
Harding, A.E.3
-
18
-
-
0029975531
-
Die Choreoakanthozytose,ein neurologisch-hämatologisches Syndrom
-
Hiersemenzel L-P, Johannes S, Themann P, Hofferberth B (1996) Die Choreoakanthozytose,ein neurologisch-hämatologisches Syndrom. Nervenarzt 67:490-495
-
(1996)
Nervenarzt
, vol.67
, pp. 490-495
-
-
Hiersemenzel, L.-P.1
Johannes, S.2
Themann, P.3
Hofferberth, B.4
-
19
-
-
77951356886
-
Über eine patho-anatomische Sonderform der Chorea
-
Hopf A (1952) Über eine patho-anatomische Sonderform der Chorea. J Nerv Ment Dis 116:608-618
-
(1952)
J Nerv Ment Dis
, vol.116
, pp. 608-618
-
-
Hopf, A.1
-
20
-
-
0035909663
-
Tourette's syndrome
-
Jankovic J (2001) Tourette's syndrome. New Engl J Med 345:1184-1192
-
(2001)
New Engl J Med
, vol.345
, pp. 1184-1192
-
-
Jankovic, J.1
-
21
-
-
0031895006
-
Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: Appearance in two sets of dizygotic twins in the same family
-
Johnson SE, Dahl A, Sjaastad O (1998) Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: Appearance in two sets of dizygotic twins in the same family. Mov Dis 13:556-562
-
(1998)
Mov Dis
, vol.13
, pp. 556-562
-
-
Johnson, S.E.1
Dahl, A.2
Sjaastad, O.3
-
22
-
-
0035095437
-
McLeod syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings
-
Jung HH, Hergersberg M, Kneifel S et al. (2001) McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann Neurol 49:384-392
-
(2001)
Ann Neurol
, vol.49
, pp. 384-392
-
-
Jung, H.H.1
Hergersberg, M.2
Kneifel, S.3
-
24
-
-
0033911804
-
Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3
-
Kambouris M, Bohlega S, Al-Tahan A, Meyer BF (2000) Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am J Hum Genet 66:445-452
-
(2000)
Am J Hum Genet
, vol.66
, pp. 445-452
-
-
Kambouris, M.1
Bohlega, S.2
Al-Tahan, A.3
Meyer, B.F.4
-
25
-
-
0001903995
-
Disorder of the biogenesis and secretion of lipoprotein containing the B apolipoproteins
-
Scriver CR, Beaudet AL, Sly WS et al. (eds). McGraw-Hill, New York
-
Kane J, Havel RJ (1995) Disorder of the biogenesis and secretion of lipoprotein containing the B apolipoproteins. In: Scriver CR, Beaudet AL, Sly WS et al. (eds) The Metabolic and Molecular Bases of Inherited Disease. Vol. 2. McGraw-Hill, New York, pp 1853-1885
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 1853-1885
-
-
Kane, J.1
Havel, R.J.2
-
26
-
-
0030022465
-
The pattern of cognitive impairment in neuroacanthocytosis. A frontosubcortical dementia
-
Kartsounis LD, Hardie RJ (1996) The pattern of cognitive impairment 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
-
27
-
-
0033210254
-
Chorea Huntington. Tiermodelle eröffnen neue Hypothesen zu Pathophysiologie und Therapie
-
Kosinski CM, Cha JH, Young AB, Schwarz M (1999) Chorea Huntington. Tiermodelle eröffnen neue Hypothesen zu Pathophysiologie und Therapie. Nervenarzt 70:878-888
-
(1999)
Nervenarzt
, vol.70
, pp. 878-888
-
-
Kosinski, C.M.1
Cha, J.H.2
Young, A.B.3
Schwarz, M.4
-
28
-
-
0033566651
-
Proteolytic processing of big endothelin-3 by the Kell blood group protein
-
Lee S, Lin M, Mele A, Cao Y, Farmar J, Russo D, Redman C (1999) Proteolytic processing of big endothelin-3 by the Kell blood group protein. Blood 94:1440-1450
-
(1999)
Blood
, vol.94
, pp. 1440-1450
-
-
Lee, S.1
Lin, M.2
Mele, A.3
Cao, Y.4
Farmar, J.5
Russo, D.6
Redman, C.7
-
29
-
-
0014343403
-
Hereditary neurological disease with acanthocytosis, a new syndrome
-
Levine IM, Estes JW, Looney JB (1968) Hereditary neurological disease with acanthocytosis, a new syndrome. Arch Neurol 19:403-409
-
(1968)
Arch Neurol
, vol.19
, pp. 403-409
-
-
Levine, I.M.1
Estes, J.W.2
Looney, J.B.3
-
30
-
-
0027484398
-
Choreo-acanthocytosis like phenotype without acanthocytes: Clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus
-
Malandrini A, Fabrizi GM, Palmeri S et al. (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 (Berlin) 86:651-658
-
(1993)
Acta Neuropathol (Berlin)
, vol.86
, pp. 651-658
-
-
Malandrini, A.1
Fabrizi, G.M.2
Palmeri, S.3
-
31
-
-
0034741742
-
A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
-
Margolis RL, O'Hearn E, Rosenblatt A et al. (2001) A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann Neurol 50:373-380
-
(2001)
Ann Neurol
, vol.50
, pp. 373-380
-
-
Margolis, R.L.1
O'Hearn, E.2
Rosenblatt, A.3
-
32
-
-
0022510636
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: A clinicopathological study of a unique case
-
Mukoyama M, Kazui H, Sunohara N, Yoshida H, Nonaka I, Satoyoshi E (1986) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: A clinicopathological study of a unique case. J Neurol 233:228-232
-
(1986)
J Neurol
, vol.233
, pp. 228-232
-
-
Mukoyama, M.1
Kazui, H.2
Sunohara, N.3
Yoshida, H.4
Nonaka, I.5
Satoyoshi, E.6
-
34
-
-
0030461055
-
McLeod-Neuroakanthozytose: Ein zu selten diagnostiziertes Syndrom?
-
Oechsner M, Danek A, Winkler G (1996) McLeod-Neuroakanthozytose: Ein zu selten diagnostiziertes Syndrom? Akt Neurol 23:245-250
-
(1996)
Akt Neurol
, vol.23
, pp. 245-250
-
-
Oechsner, M.1
Danek, A.2
Winkler, G.3
-
35
-
-
0034119859
-
Progressive chorea and amyotrophy without acanthocytes: A new case of Fotopoulos syndrome?
-
Pageot N, Vial C, Remy C, Chazot G, Broussolle E (2000) Progressive chorea and amyotrophy without acanthocytes: a new case of Fotopoulos syndrome? J Neurol 247:392-394
-
(2000)
J Neurol
, vol.247
, pp. 392-394
-
-
Pageot, N.1
Vial, C.2
Remy, C.3
Chazot, G.4
Broussolle, E.5
-
36
-
-
0034972973
-
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
-
Rampoldi L, Dobson-Stone C, Rubio JP et al. (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
-
37
-
-
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 Dis 9:297-304
-
(1994)
Mov Dis
, 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
-
38
-
-
0031817038
-
Patients with features similar to Huntington's disease, without CAG expansion in huntingtin
-
Rosenblatt A, Ranen NG, Rubinsztein DC et al. (1998) Patients with features similar to Huntington's disease, without CAG expansion in huntingtin. Neurology 51:215-220
-
(1998)
Neurology
, vol.51
, pp. 215-220
-
-
Rosenblatt, A.1
Ranen, N.G.2
Rubinsztein, D.C.3
-
39
-
-
0030868770
-
Huntington disease and the related disorder, dentatorubral-pallidoluysian atrophy (DRPLA)
-
Ross CA, Margolis RL, Rosenblatt A, Ranen NG, Becher MW, Aylward E (1997) Huntington disease and the related disorder, dentatorubral-pallidoluysian atrophy (DRPLA). Medicine (Baltimore) 76:305-338
-
(1997)
Medicine (Baltimore)
, vol.76
, pp. 305-338
-
-
Ross, C.A.1
Margolis, R.L.2
Rosenblatt, A.3
Ranen, N.G.4
Becher, M.W.5
Aylward, E.6
-
40
-
-
0033103930
-
Late appearance of acanthocytes during the course of choreaacanthocytosis
-
Sorrentino G, De Renzo A, Miniello S, Nori O, Bonvita V (1999) Late appearance of acanthocytes during the course of choreaacanthocytosis. J Neurol Sci 163:175-178
-
(1999)
J Neurol Sci
, vol.163
, pp. 175-178
-
-
Sorrentino, G.1
De Renzo, A.2
Miniello, S.3
Nori, O.4
Bonvita, V.5
-
41
-
-
0033680282
-
The ced-8 gene controls the timing of programmed cell deaths in C.elegans
-
Stanfield GM, Horvitz HR (2000)The ced-8 gene controls the timing of programmed cell deaths in C.elegans. Mol Cell 5:423-433
-
(2000)
Mol Cell
, vol.5
, pp. 423-433
-
-
Stanfield, G.M.1
Horvitz, H.R.2
-
42
-
-
0034838767
-
Hallervorden-Spatz syndrome
-
Swaiman KF (2001) Hallervorden-Spatz syndrome. Pediatr Neurol 25:102-108
-
(2001)
Pediatr Neurol
, vol.25
, pp. 102-108
-
-
Swaiman, K.F.1
-
43
-
-
0020516749
-
Benign X-linked myopathy with acanthocytes (McLeod syndrome),its relationship to X-linked muscular dystrophy
-
Swash M, Schwartz MS, Carter ND, Heath R, Leak M, Rogers KL (1983) Benign X-linked myopathy with acanthocytes (McLeod syndrome),its relationship to X-linked muscular dystrophy. Brain 106:717-733
-
(1983)
Brain
, vol.106
, pp. 717-733
-
-
Swash, M.1
Schwartz, M.S.2
Carter, N.D.3
Heath, R.4
Leak, M.5
Rogers, K.L.6
-
44
-
-
0030914992
-
Acanthocytosis and spinocerebellar degeneration: A new association?
-
Tsai C-H, Chen R-S, Chang H-C, Lu C-S, Liao K-K (1997) Acanthocytosis and spinocerebellar degeneration: A new association? Mov Dis 12:456-459
-
(1997)
Mov Dis
, vol.12
, pp. 456-459
-
-
Tsai, C.-H.1
Chen, R.-S.2
Chang, H.-C.3
Lu, C.-S.4
Liao, K.-K.5
-
45
-
-
0034967701
-
The gene encoding a newly discovered protein, chorein, is mutated in choreaacanthocytosis
-
Ueno S, Maruki Y, Nakamura M et al. (2001) The gene encoding a newly discovered protein, chorein, is mutated in choreaacanthocytosis. Nat Genet 28:121-122
-
(2001)
Nat Genet
, vol.28
, pp. 121-122
-
-
Ueno, S.1
Maruki, Y.2
Nakamura, M.3
-
47
-
-
0035353745
-
Deep brain stimulation of the internal pallidum did not improve chorea in a patient with neuro-acanthocytosis
-
Wihl G, Volkmann J, Allert N, Lehrke R, Sturm V, Freund HJ (2001) Deep brain stimulation of the internal pallidum did not improve chorea in a patient with neuro-acanthocytosis. Mov Dis 16:572-575
-
(2001)
Mov Dis
, vol.16
, pp. 572-575
-
-
Wihl, G.1
Volkmann, J.2
Allert, N.3
Lehrke, R.4
Sturm, V.5
Freund, H.J.6
-
48
-
-
0034040532
-
Chronic granulomatous disease. Report on a national registry of 368 patients
-
Winkelstein JA, Marino MC, Johnston RBJ et al. (2000) Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79:155-169
-
(2000)
Medicine (Baltimore)
, vol.79
, pp. 155-169
-
-
Winkelstein, J.A.1
Marino, M.C.2
Johnston, R.B.J.3
-
49
-
-
0032231383
-
A Huntington disease-like neurodegenerative disorder maps to chromosome 20p
-
Xiang FQ, Almqvist EW, Huq M et al. (1998) A Huntington disease-like neurodegenerative disorder maps to chromosome 20p. Am J Hum Genet 63:1431-1438
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1431-1438
-
-
Xiang, F.Q.1
Almqvist, E.W.2
Huq, M.3
|