-
1
-
-
0028353818
-
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCAtype I
-
Benomar A, Le Guern, Durr A, et al. Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCAtype I. Ann Neurol 1994;35:439-444.
-
(1994)
Ann Neurol
, vol.35
, pp. 439-444
-
-
Benomar, A.1
Le Guern2
Durr, A.3
-
2
-
-
0029031694
-
The gene for autosomal dominant ataxia with pigmentary dystrophy maps to chromosome 3p12-p21.1
-
Benomar A, Stevanin G, Cancel G, et al. The gene for autosomal dominant ataxia with pigmentary dystrophy maps to chromosome 3p12-p21.1. Nat Genet 1995;10:84-88.
-
(1995)
Nat Genet
, vol.10
, pp. 84-88
-
-
Benomar, A.1
Stevanin, G.2
Cancel, G.3
-
3
-
-
0029048660
-
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
-
Gouw L, Kaplan C, Haines J, et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet 1995;10:89-93.
-
(1995)
Nat Genet
, vol.10
, pp. 89-93
-
-
Gouw, L.1
Kaplan, C.2
Haines, J.3
-
4
-
-
0029117960
-
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and antecipation to chromosome 3p12-p21.1
-
Holmberg M, Johansson J, Forsgren J, Heijbel J, Sandgren O, Holmgren G. Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and antecipation to chromosome 3p12-p21.1. Am J Hum Genet 1995;4:1441-45.
-
(1995)
Am J Hum Genet
, vol.4
, pp. 1441-1445
-
-
Holmberg, M.1
Johansson, J.2
Forsgren, J.3
Heijbel, J.4
Sandgren, O.5
Holmgren, G.6
-
5
-
-
19244364538
-
The gene for autosomal dominant ataxia Type II is located in a 5-cM in 3p12-13: Genetic and physical mapping of the SCA7 locus
-
David G, Giunti P, Abbas N, et al. The gene for autosomal dominant ataxia Type II is located in a 5-cM in 3p12-13: genetic and physical mapping of the SCA7 locus. Am J Hum Genet 1996;59:1328-1336.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1328-1336
-
-
David, G.1
Giunti, P.2
Abbas, N.3
-
6
-
-
17344394539
-
Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1
-
Krols L, Martin JJ, David G, et al. Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1. Hum Genet 1997;99:225-232.
-
(1997)
Hum Genet
, vol.99
, pp. 225-232
-
-
Krols, L.1
Martin, J.J.2
David, G.3
-
7
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.
-
(1997)
Nat Genet
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
-
8
-
-
6844239536
-
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion
-
Del-Favero , Krols L, Michalick A, et al. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Molec Genet 1998;7:177-186.
-
(1998)
Hum Molec Genet
, vol.7
, pp. 177-186
-
-
Del-Favero1
Krols, L.2
Michalick, A.3
-
9
-
-
6844254538
-
Molecular and clinical correlations: Cerebellar ataxia with pro g ressive macular dystrophy (SCA7)
-
David G, Dürr A, Stevanin G, et al. Molecular and clinical correlations: cerebellar ataxia with pro g ressive macular dystrophy (SCA7). Hum Molec Genet 1998;7:165-170.
-
(1998)
Hum Molec Genet
, vol.7
, pp. 165-170
-
-
David, G.1
Dürr, A.2
Stevanin, G.3
-
10
-
-
76549233060
-
Cerebellar-macular abiotrophy
-
Havener WH. Cerebellar-macular abiotrophy. A rch Ophthalmol 1951;25:40-43.
-
(1951)
Arch Ophthalmol
, vol.25
, pp. 40-43
-
-
Havener, W.H.1
-
11
-
-
0012578929
-
Hérédo-ataxie cérébelleuse avec amblyopie et paralysie de la verticalité du regar chez la mère et l'enfant
-
Boudin G, Barbizet J, Le Hénaff MY. Hérédo-ataxie cérébelleuse avec amblyopie et paralysie de la verticalité du regar chez la mère et l'enfant. Rev Neurol 1952;87:330-335.
-
(1952)
Rev Neurol
, vol.87
, pp. 330-335
-
-
Boudin, G.1
Barbizet, J.2
Le Hénaff, M.Y.3
-
12
-
-
0023743293
-
Adominantly inherited pro g ressive disease in a black family characterized by cerebellar and retinal degeneration, external ophthalmolplegia and abnormal mitochondria
-
Cooles P, Michaud R, Best PV. Adominantly inherited pro g ressive disease in a black family characterized by cerebellar and retinal degeneration, external ophthalmolplegia and abnormal mitochondria. J Neurol Sci 1988;87:275-288.
-
(1988)
J Neurol Sci
, vol.87
, pp. 275-288
-
-
Cooles, P.1
Michaud, R.2
Best, P.V.3
-
13
-
-
84895296455
-
Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia
-
Jampel RS, Okazaki H, Bersntein H. Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia. Arch Ophthalmol 1961;66:247-249.
-
(1961)
Arch Ophthalmol
, vol.66
, pp. 247-249
-
-
Jampel, R.S.1
Okazaki, H.2
Bersntein, H.3
-
14
-
-
0028304397
-
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: A clinical and genetic study of eigth families
-
Enovoldson TP, Sanders MD, Harding AE. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: a clinical and genetic study of eigth families. Brain 1994;117:445-460.
-
(1994)
Brain
, vol.117
, pp. 445-460
-
-
Enovoldson, T.P.1
Sanders, M.D.2
Harding, A.E.3
-
15
-
-
7044274091
-
Clinical phenotype of Brazilian families with spinocerebellar ataxia 10
-
Teive HAG, Iwamoto FM, Camargo CH, Lopes-Cendes I, Werneck LC. Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. Neurology 2004;63:1509-1512.
-
(2004)
Neurology
, vol.63
, pp. 1509-1512
-
-
Teive, H.A.G.1
Iwamoto, F.M.2
Camargo, C.H.3
Lopes-Cendes, I.4
Werneck, L.C.5
-
16
-
-
0033069723
-
Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22
-
Zu L, Figueroa KP, Grewal R, Pulst SM. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet 1999;64:594-599.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 594-599
-
-
Zu, L.1
Figueroa, K.P.2
Grewal, R.3
Pulst, S.M.4
-
17
-
-
0034093161
-
Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds
-
Tang B, Liu C, Shen L, Dai H, et al. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol 2000;57:540-544.
-
(2000)
Arch Neurol
, vol.57
, pp. 540-544
-
-
Tang, B.1
Liu, C.2
Shen, L.3
Dai, H.4
-
18
-
-
17744397508
-
Evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia
-
Jonasson J. Evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. Eur Hum Genet 2000;8:918-922.
-
(2000)
Eur Hum Genet
, vol.8
, pp. 918-922
-
-
Jonasson, J.1
-
19
-
-
0032777834
-
Spinocerebellar ataxias in Spanish patients: Genetic analysis of familial and sporadic cases
-
Pujana MA, Corral J, Gratacós M, et al. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. Hum Genet 1999;104:516-522.
-
(1999)
Hum Genet
, vol.104
, pp. 516-522
-
-
Pujana, M.A.1
Corral, J.2
Gratacós, M.3
-
20
-
-
0034787294
-
Asurvey of spinocerebellar ataxia in South Brazil: 66 New cases with Machado Joseph disease, SCA 7, SCA 8 or unidentified disease causing mutations
-
Ja rdim LB, Silveira I, Pereira ML, et al. Asurvey of spinocerebellar ataxia in South Brazil: 66 new cases with Machado Joseph disease, SCA 7, SCA 8 or unidentified disease causing mutations. J Neurol 2001;248:870-876.
-
(2001)
J Neurol
, vol.248
, pp. 870-876
-
-
Jardim, L.B.1
Silveira, I.2
Pereira, M.L.3
-
21
-
-
19244384619
-
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3, and DRPLA) in a large group of brazilian patients
-
Lopes-Cendes I, Teive LGA, Calcagnoto ME, et al. Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3, and DRPLA) in a large group of brazilian patients. Arq. Neuropsiquiatr 1997;55:519-529.
-
(1997)
Arq Neuropsiquiatr
, vol.55
, pp. 519-529
-
-
Lopes-Cendes, I.1
Teive, L.G.A.2
Calcagnoto, M.E.3
-
22
-
-
0029557747
-
Genética de las neuropatias periféricas y las ataxias hereditarias
-
Palau F, Sevilla T. Genética de las neuropatias periféricas y las ataxias hereditarias. Neurologia 1995;10:32-43.
-
(1995)
Neurologia
, vol.10
, pp. 32-43
-
-
Palau, F.1
Sevilla, T.2
-
23
-
-
0031712507
-
De novo expansion of intermediate alleles in spinocerebellar ataxia 7
-
Stevanin G, Giunti P, David G, et al. De novo expansion of intermediate alleles in spinocerebellar ataxia 7. Hum Molec Genet 1998;7:1809-1813.
-
(1998)
Hum Molec Genet
, vol.7
, pp. 1809-1813
-
-
Stevanin, G.1
Giunti, P.2
David, G.3
-
24
-
-
0004799163
-
Molecular and clinical study of 18 families with ADCA type II: Evidence for genetic heterogeneity and de novo mutation
-
Giunti P, Stevanin G, Worth PF, David G, Brice A, Wood NW. Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. Am J Hum Genet 1999;64:1594-1603.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1594-1603
-
-
Giunti, P.1
Stevanin, G.2
Worth, P.F.3
David, G.4
Brice, A.5
Wood, N.W.6
|