-
1
-
-
0034785531
-
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
-
Moreira MC, Barbot C, Tachi N, et al: The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 2001;29:189-193.
-
(2001)
Nat. Genet.
, vol.29
, pp. 189-193
-
-
Moreira, M.C.1
Barbot, C.2
Tachi, N.3
-
2
-
-
0034790947
-
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
-
Date H, Onodera O, Tanaka H, et al: Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 2001;29:184-188.
-
(2001)
Nat. Genet.
, vol.29
, pp. 184-188
-
-
Date, H.1
Onodera, O.2
Tanaka, H.3
-
3
-
-
0035125621
-
Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity
-
Moreira MC, Barbot C, Tachi N, et al: Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet 2001; 68:501-508.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 501-508
-
-
Moreira, M.C.1
Barbot, C.2
Tachi, N.3
-
4
-
-
0034513418
-
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23
-
Bomont P, Watanabe M, Gershoni-Barrush R, et al: Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet 2000;8:890-986.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 890-986
-
-
Bomont, P.1
Watanabe, M.2
Gershoni-Barrush, R.3
-
5
-
-
0033754489
-
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34
-
Nemeth AH, Bochukova E, Dunne E, et al: Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet 2000;67:1320-1326.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1320-1326
-
-
Nemeth, A.H.1
Bochukova, E.2
Dunne, E.3
-
6
-
-
10744228698
-
Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein
-
Sano Y, Date H, Igarashi S, et al: Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. Ann Neurol 2004;55:241-249.
-
(2004)
Ann. Neurol.
, vol.55
, pp. 241-249
-
-
Sano, Y.1
Date, H.2
Igarashi, S.3
-
7
-
-
0037432279
-
Phenotypic variability of aprataxin gene mutations
-
Tranchant C, Fleury M, Moreira MC, et al: Phenotypic variability of aprataxin gene mutations. Neurology 2003; 60:868-870.
-
(2003)
Neurology
, vol.60
, pp. 868-870
-
-
Tranchant, C.1
Fleury, M.2
Moreira, M.C.3
-
8
-
-
0344875066
-
Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies
-
Le Ber I, Moreira MC, Rivaud-Pechoux S, et al: Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies. Brain 2003;126:2761-2772.
-
(2003)
Brain
, vol.126
, pp. 2761-2772
-
-
Le Ber, I.1
Moreira, M.C.2
Rivaud-Pechoux, S.3
-
9
-
-
0035109757
-
Recessive ataxia with ocular apraxia: Review of 22 Portuguese patients
-
Barbot C, Coutinoho P, Chorao R, et al: Recessive ataxia with ocular apraxia: Review of 22 Portuguese patients. Arch Neurol 2001;58:201-205.
-
(2001)
Arch. Neurol.
, vol.58
, pp. 201-205
-
-
Barbot, C.1
Coutinoho, P.2
Chorao, R.3
|