-
1
-
-
0008765897
-
Acanthrocytosis associated with schizophrenia
-
Rovito DA, Pirone FJ: Acanthrocytosis associated with schizophrenia. Am J Psychiatry 120: 182-185, 1963
-
(1963)
Am J Psychiatry
, vol.120
, pp. 182-185
-
-
Rovito, D.A.1
Pirone, F.J.2
-
2
-
-
0014343403
-
Hereditary neurological disease with acanthocytosis. A new syndrome
-
Levine IM, Estes JW, Looney JM: Hereditary neurological disease with acanthocytosis. A new syndrome. Arch Neurol 19: 403-409, 1968
-
(1968)
Arch Neurol
, vol.19
, pp. 403-409
-
-
Levine, I.M.1
Estes, J.W.2
Looney, J.M.3
-
3
-
-
0014247784
-
Acanthocytosis and neurological disorder without betalipoproteinemia
-
Critchley EM, Clark DB, Wikler A: Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol 18: 134-140, 1968
-
(1968)
Arch Neurol
, vol.18
, pp. 134-140
-
-
Critchley, E.M.1
Clark, D.B.2
Wikler, A.3
-
4
-
-
0026073577
-
Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases
-
Hardie RJ, Pullon HW, Harding AE, Owen JS, Pires M, et al: Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114: 13-49, 1991
-
(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
-
5
-
-
33846453541
-
Self-mutilation in chorea-acanthocytosis: Manifestation of movement disorder or psychopathology?
-
Walker RH, Liu Q, Ichiba M, Muroya S, Nakamura M, et al: Self-mutilation in chorea-acanthocytosis: Manifestation of movement disorder or psychopathology? Mov Disord 21: 2268-2269, 2006
-
(2006)
Mov Disord
, vol.21
, pp. 2268-2269
-
-
Walker, R.H.1
Liu, Q.2
Ichiba, M.3
Muroya, S.4
Nakamura, M.5
-
6
-
-
14844335966
-
Neuroacanthocytosis: New developments in a neglected group of dementing disorders
-
Danek A, Jung HH, Melone MA, Rampoldi L, Broccoli V, et al: Neuroacanthocytosis: new developments in a neglected group of dementing disorders. J Neurol Sci 229-230: 171-186, 2005
-
(2005)
J Neurol Sci
, vol.229-230
, pp. 171-186
-
-
Danek, A.1
Jung, H.H.2
Melone, M.A.3
Rampoldi, L.4
Broccoli, V.5
-
7
-
-
34748889730
-
A new phenotype of chorea-acanthocytosis with dilated cardiomyopathy and myopathy
-
Kageyama Y, Matsumoto K, Ichikawa K, Ueno S, Ichiba M, et al: A new phenotype of chorea-acanthocytosis with dilated cardiomyopathy and myopathy. Mov Disord 22: 1669-1670, 2007
-
(2007)
Mov Disord
, vol.22
, pp. 1669-1670
-
-
Kageyama, Y.1
Matsumoto, K.2
Ichikawa, K.3
Ueno, S.4
Ichiba, M.5
-
8
-
-
35648981928
-
Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree
-
Ichiba M, Nakamura M, Kusumoto A, Mizuno E, Kurano Y, et al: Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree. J Neurol Sci 263: 124-132, 2007
-
(2007)
J Neurol Sci
, vol.263
, pp. 124-132
-
-
Ichiba, M.1
Nakamura, M.2
Kusumoto, A.3
Mizuno, E.4
Kurano, Y.5
-
9
-
-
0034967701
-
The gene encoding a newly discovered protein, chorein, is mutated in chorea- acanthocytosis
-
Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, et al: The gene encoding a newly discovered protein, chorein, is mutated in chorea- acanthocytosis. Nat Genet 28: 121-122, 2001
-
(2001)
Nat Genet
, vol.28
, pp. 121-122
-
-
Ueno, S.1
Maruki, Y.2
Nakamura, M.3
Tomemori, Y.4
Kamae, K.5
-
10
-
-
0034972973
-
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
-
Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, et al: A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 28: 119-120, 2001
-
(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
-
11
-
-
3843101623
-
Analysis of the human VPS13 gene family
-
Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP: Analysis of the human VPS13 gene family. Genomics 84: 536-549, 2004
-
(2004)
Genomics
, vol.84
, pp. 536-549
-
-
Velayos-Baeza, A.1
Vettori, A.2
Copley, R.R.3
Dobson-Stone, C.4
Monaco, A.P.5
-
12
-
-
18744385813
-
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
-
Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, et al: Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10: 773-781, 2002
-
(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
-
13
-
-
13644263163
-
A gene-targeted mouse model for chorea-acanthocytosis
-
Tomemori Y, Ichiba M, Kusumoto A, Mizuno E, Sato D, et al: A gene-targeted mouse model for chorea-acanthocytosis. J Neurochem 92: 759-766, 2005
-
(2005)
J Neurochem
, vol.92
, pp. 759-766
-
-
Tomemori, Y.1
Ichiba, M.2
Kusumoto, A.3
Mizuno, E.4
Sato, D.5
-
14
-
-
33846149287
-
Brain-specific transcript variants of 5′ and 3' ends of mouse VPS13A and VPS13C
-
Mizuno E, Nakamura M, Agemura A, Kusumoto A, Ichiba M, el al: Brain-specific transcript variants of 5′ and 3' ends of mouse VPS13A and VPS13C. Biochem Biophys Res Commun 353: 902-907, 2007
-
(2007)
Biochem Biophys Res Commun
, vol.353
, pp. 902-907
-
-
Mizuno, E.1
Nakamura, M.2
Agemura, A.3
Kusumoto, A.4
Ichiba, M.5
el al6
-
15
-
-
33845810686
-
In vivo distribution and localization of chorein
-
Kurano Y, Nakamura M, Ichiba M, Matsuda M, Mizuno E, et al: In vivo distribution and localization of chorein. Biochem Biophys Res Commun 353: 431-435, 2007
-
(2007)
Biochem Biophys Res Commun
, vol.353
, pp. 431-435
-
-
Kurano, Y.1
Nakamura, M.2
Ichiba, M.3
Matsuda, M.4
Mizuno, E.5
-
16
-
-
33750506721
-
Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor
-
Kurano Y, Nakamura M, Ichiba M, Matsuda M, Mizuno E, et al: Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor. Biochem Biophys Res Commun 351: 438-442, 2006
-
(2006)
Biochem Biophys Res Commun
, vol.351
, pp. 438-442
-
-
Kurano, Y.1
Nakamura, M.2
Ichiba, M.3
Matsuda, M.4
Mizuno, E.5
-
17
-
-
0001216951
-
A new phenotype (McLeod) in the Kell blood-group system
-
Allen FH, Krabbe SMR, Corcoran PA: A new phenotype (McLeod) in the Kell blood-group system Vox Sang 6: 555-560, 1961
-
(1961)
Vox Sang
, vol.6
, pp. 555-560
-
-
Allen, F.H.1
Krabbe, S.M.R.2
Corcoran, P.A.3
-
18
-
-
79957546838
-
Update on McLeod Syndrome
-
Syndromes II,Walker RH, Saiki S, Danek A eds, Springer, London
-
Jung HH: Update on McLeod Syndrome. In: Neuroacanthocytosis Syndromes II,Walker RH, Saiki S, Danek A (eds), Springer, London, 2007, pp53-58
-
(2007)
Neuroacanthocytosis
, pp. 53-58
-
-
Jung, H.H.1
-
19
-
-
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, et al: Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 77: 869-880, 1994
-
(1994)
Cell
, vol.77
, pp. 869-880
-
-
Ho, M.1
Chelly, J.2
Carter, N.3
Danek, A.4
Crocker, P.5
-
20
-
-
0035202829
-
McLeod neuroacanthocytosis: Genotype and phenotype
-
Danek A, Rubio JP, Rampoldi L, HoM, Dobson-Stone C, et al: McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 50: 755-764, 2001
-
(2001)
Ann Neurol
, vol.50
, pp. 755-764
-
-
Danek, A.1
Rubio, J.P.2
Rampoldi, L.3
HoM4
Dobson-Stone, C.5
-
21
-
-
3442893356
-
White matter abnormalities on MRI in neuroacanthocytosis
-
Nicholl DJ, Sutton I, Dotti MT, Supple SG, Danek A, et al: White matter abnormalities on MRI in neuroacanthocytosis. J Neurol Neurosurg Psychiatry 75: 1200-1201, 2004
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 1200-1201
-
-
Nicholl, D.J.1
Sutton, I.2
Dotti, M.T.3
Supple, S.G.4
Danek, A.5
-
22
-
-
0035095437
-
McLeod syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings
-
Jung HH, Hergersberg M, Kneifel S, Alkadhi H, Schiess R, et al: McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann Neurol 49: 384-392, 2001
-
(2001)
Ann Neurol
, vol.49
, pp. 384-392
-
-
Jung, H.H.1
Hergersberg, M.2
Kneifel, S.3
Alkadhi, H.4
Schiess, R.5
-
23
-
-
0033680282
-
The ced-8 gene controls the timing of programmed cell deaths in C. elegans
-
Stanfield GM, Horvitz HR: The ced-8 gene controls the timing of programmed cell deaths in C. elegans. Molec. Cell 5: 423-433, 2000
-
(2000)
Molec. Cell
, vol.5
, pp. 423-433
-
-
Stanfield, G.M.1
Horvitz, H.R.2
-
24
-
-
46049116899
-
-
Margolis RL, Rudnicki DD: Huntington's Disease-Like 2. In: Neuroacanthocytosis Syndromes II, Walker RH, Saiki S, Danek A (eds), Springer, London, 2007, pp59 74
-
Margolis RL, Rudnicki DD: Huntington's Disease-Like 2. In: Neuroacanthocytosis Syndromes II, Walker RH, Saiki S, Danek A (eds), Springer, London, 2007, pp59 74
-
-
-
-
25
-
-
0037046199
-
Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions
-
Walker RH, Morgello S, Davidoff-Feldman B, Melnick A, Walsh MJ, et al: Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology 58: 1031-1037, 2002
-
(2002)
Neurology
, vol.58
, pp. 1031-1037
-
-
Walker, R.H.1
Morgello, S.2
Davidoff-Feldman, B.3
Melnick, A.4
Walsh, M.J.5
-
26
-
-
18344379670
-
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
-
Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, et al: A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet 29: 377-378, 2001
-
(2001)
Nat Genet
, vol.29
, pp. 377-378
-
-
Holmes, S.E.1
O'Hearn, E.2
Rosenblatt, A.3
Callahan, C.4
Hwang, H.S.5
-
27
-
-
9144245757
-
Greenstein P Huntington's disease-like 2 (HDL2) in North America and Japan
-
Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O'Hearn E, et al: Greenstein P Huntington's disease-like 2 (HDL2) in North America and Japan. Ann Neurol 56: 670-674, 2004
-
(2004)
Ann Neurol
, vol.56
, pp. 670-674
-
-
Margolis, R.L.1
Holmes, S.E.2
Rosenblatt, A.3
Gourley, L.4
O'Hearn, E.5
-
28
-
-
0034741742
-
A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
-
Margolis RL, O'Hearn E, Rosenblatt A, Willour V, Holmes SE, et al: A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann Neurol 50: 373-380, 2001
-
(2001)
Ann Neurol
, vol.50
, pp. 373-380
-
-
Margolis, R.L.1
O'Hearn, E.2
Rosenblatt, A.3
Willour, V.4
Holmes, S.E.5
-
29
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
-
Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, et al: Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378: 403-406, 1995
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottier, Y.1
Lutz, Y.2
Stevanin, G.3
Imbert, G.4
Devys, D.5
-
30
-
-
0036296296
-
Motor discoordination in mutant mice lacking junctophilin type 3
-
Nishi M, Hashimoto K, Kuriyama K Komazaki S Kano M, et al: Motor discoordination in mutant mice lacking junctophilin type 3. Biochem Biophys Res Commun 292: 318-324, 2002
-
(2002)
Biochem Biophys Res Commun
, vol.292
, pp. 318-324
-
-
Nishi, M.1
Hashimoto, K.2
Kuriyama, K.3
Komazaki, S.4
Kano, M.5
-
31
-
-
33746099696
-
Functional uncoupling between Ca2+ release and after hyperpolarization in mutant hippocampal neurons lacking junctophilins
-
Moriguchi S, Nishi M, Komazaki S, Sakagami H, Miyazaki T, et al: Functional uncoupling between Ca2+ release and after hyperpolarization in mutant hippocampal neurons lacking junctophilins. Proc Natl Acad Sci U S A 103: 10811-10816, 2006
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 10811-10816
-
-
Moriguchi, S.1
Nishi, M.2
Komazaki, S.3
Sakagami, H.4
Miyazaki, T.5
-
32
-
-
16144365391
-
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
-
Taylor T D, Litt M, Kramer P, Pandolfo M, Angelini L, et al: Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nature Genet 14: 479-481, 1996
-
(1996)
Nature Genet
, vol.14
, pp. 479-481
-
-
Taylor, T.D.1
Litt, M.2
Kramer, P.3
Pandolfo, M.4
Angelini, L.5
-
33
-
-
0034935036
-
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
-
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, et al: A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 28: 345-349, 2001
-
(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
-
34
-
-
21044449726
-
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
-
Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, et al: The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. Neurology 64: 1810-1812, 2005
-
(2005)
Neurology
, vol.64
, pp. 1810-1812
-
-
Pellecchia, M.T.1
Valente, E.M.2
Cif, L.3
Salvi, S.4
Albanese, A.5
-
35
-
-
0037062571
-
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration
-
Ching KHL, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ: HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology 58: 1673-1674, 2002
-
(2002)
Neurology
, vol.58
, pp. 1673-1674
-
-
Ching, K.H.L.1
Westaway, S.K.2
Gitschier, J.3
Higgins, J.J.4
Hayflick, S.J.5
-
36
-
-
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, et al: Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Hum Molec Genet 14: 49-57, 2005
-
(2005)
Hum Molec Genet
, vol.14
, pp. 49-57
-
-
Kuo, Y.M.1
Duncan, J.L.2
Westaway, S.K.3
Yang, H.4
Nune, G.5
-
37
-
-
0001327424
-
Malformation of the erythrocytes in a case of atypical retinitis pigmentosa
-
Bassen FA, Kornzweig AL: Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 5: 381-387, 1950
-
(1950)
Blood
, vol.5
, pp. 381-387
-
-
Bassen, F.A.1
Kornzweig, A.L.2
-
38
-
-
0027428820
-
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia
-
Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, et al: Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 365: 65-69, 1993
-
(1993)
Nature
, vol.365
, pp. 65-69
-
-
Sharp, D.1
Blinderman, L.2
Combs, K.A.3
Kienzle, B.4
Ricci, B.5
-
39
-
-
0017354559
-
Long-term management of abetalipoproteinaemia. Possible role for vitamin E
-
Muller DP, Lloyd JK, Bird AC: Long-term management of abetalipoproteinaemia. Possible role for vitamin E. Arch Dis Child 52: 209-214, 1977
-
(1977)
Arch Dis Child
, vol.52
, pp. 209-214
-
-
Muller, D.P.1
Lloyd, J.K.2
Bird, A.C.3
-
40
-
-
84982439292
-
Abetalipoproteinemia treated with parenteral and oral vitamins A and E, and with medium chain triglycerides
-
Azizi E, Zaidman JL, Eshchar J, Szeinberg A: Abetalipoproteinemia treated with parenteral and oral vitamins A and E, and with medium chain triglycerides. Acta Paediatr Scand 67: 796-801, 1978
-
(1978)
Acta Paediatr Scand
, vol.67
, pp. 796-801
-
-
Azizi, E.1
Zaidman, J.L.2
Eshchar, J.3
Szeinberg, A.4
-
41
-
-
0020334061
-
Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia
-
Muller DP, Lloyd JK: Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. Ann N Y Acad Sci 393: 133-144, 1982
-
(1982)
Ann N Y Acad Sci
, vol.393
, pp. 133-144
-
-
Muller, D.P.1
Lloyd, J.K.2
-
42
-
-
0032555195
-
Knockout of the abetalipoproteinemia gene in mice: Reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes
-
Raabe M, Flynn LM, Zlot CH, Wong JS, Véniant MM, et al: Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes. Proc Natl Acad Sci U S A 95: 8686-8691, 1998
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 8686-8691
-
-
Raabe, M.1
Flynn, L.M.2
Zlot, C.H.3
Wong, J.S.4
Véniant, M.M.5
-
43
-
-
0032568129
-
Genetic heterogeneity in familial hypobetalipoproteinemia: Linkage and non- linkage to the apoB gene in Caucasian families
-
Pulai JI, Neuman RJ, Groenewegen AW, Wu J, Schonfeld G: Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non- linkage to the apoB gene in Caucasian families. Am J Med Genet 76: 79-86, 2003
-
(2003)
Am J Med Genet
, vol.76
, pp. 79-86
-
-
Pulai, J.I.1
Neuman, R.J.2
Groenewegen, A.W.3
Wu, J.4
Schonfeld, G.5
-
44
-
-
0033910818
-
Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22
-
Yuan B, Neuman R, Duan SH, Weber JL, Kwok PY, et al: Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. Am J Hum Genet 66: 1699-1704, 2000
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1699-1704
-
-
Yuan, B.1
Neuman, R.2
Duan, S.H.3
Weber, J.L.4
Kwok, P.Y.5
|