-
1
-
-
0029031694
-
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
-
Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin J-J, Durr A, Zaim A, Ravise N, Busque C, Penet C, Van Regemorter N, Weissenbach J, Yahyaoui M, Chkili T, Agid Y, Van Broeckhoven C, Brice A (1995) The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nature Genet 10: 84-88
-
(1995)
Nature Genet
, vol.10
, pp. 84-88
-
-
Benomar, A.1
Krols, L.2
Stevanin, G.3
Cancel, G.4
LeGuern, E.5
David, G.6
Ouhabi, H.7
Martin, J.-J.8
Durr, A.9
Zaim, A.10
Ravise, N.11
Busque, C.12
Penet, C.13
Van Regemorter, N.14
Weissenbach, J.15
Yahyaoui, M.16
Chkili, T.17
Agid, Y.18
Van Broeckhoven, C.19
Brice, A.20
more..
-
2
-
-
0026781867
-
Adult onset spinocerebellar ataxia linked to HLA in a large South African kindred of mixed ancestry
-
Bryer A, Martell RW, duToit ED, Beighton P (1992) Adult onset spinocerebellar ataxia linked to HLA in a large South African kindred of mixed ancestry. Tissue Antigens 40: 111-115
-
(1992)
Tissue Antigens
, vol.40
, pp. 111-115
-
-
Bryer, A.1
Martell, R.W.2
DuToit, E.D.3
Beighton, P.4
-
3
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
-
Chung M, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet 5: 254-258
-
(1993)
Nature Genet
, vol.5
, pp. 254-258
-
-
Chung, M.1
Ranum, L.P.2
Duvick, L.A.3
Servadio, A.4
Zoghbi, H.Y.5
Orr, H.T.6
-
4
-
-
0028877774
-
Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations
-
Dubourg O, Durr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, Brice A (1995) Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol 37: 176-180
-
(1995)
Ann Neurol
, vol.37
, pp. 176-180
-
-
Dubourg, O.1
Durr, A.2
Cancel, G.3
Stevanin, G.4
Chneiweiss, H.5
Penet, C.6
Agid, Y.7
Brice, A.8
-
5
-
-
0027742974
-
Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity
-
Durr A, Chneiweiss H, Khati C, Stevanin G, Cancel G, Feingold J, Agid Y, Brice A (1993) Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. Brain 116: 1497-1508
-
(1993)
Brain
, vol.116
, pp. 1497-1508
-
-
Durr, A.1
Chneiweiss, H.2
Khati, C.3
Stevanin, G.4
Cancel, G.5
Feingold, J.6
Agid, Y.7
Brice, A.8
-
6
-
-
0001172320
-
Autosomal dominant spinocerebellar ataxia: Clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred
-
Gardner K, Alderson K, Galster B, Kaplan C, Leppert M, Ptasek L (1994) Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred (abstract). Neurology 44 [Suppl 2]: A361
-
(1994)
Neurology
, vol.44
, Issue.2 SUPPL.
-
-
Gardner, K.1
Alderson, K.2
Galster, B.3
Kaplan, C.4
Leppert, M.5
Ptasek, L.6
-
7
-
-
0028819081
-
Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms
-
Genis D, Matilla T, Volpini V, Rosell J, Davalos A, Ferrer I, Molins A, Estivill X (1995) Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology 45: 24-30
-
(1995)
Neurology
, vol.45
, pp. 24-30
-
-
Genis, D.1
Matilla, T.2
Volpini, V.3
Rosell, J.4
Davalos, A.5
Ferrer, I.6
Molins, A.7
Estivill, X.8
-
8
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA-2) to chromosome 12q23-24.1
-
Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C, Hillermann R, Lunkes A, Khati C, Stevanin G, Hernandez A, Magarino C, Klockgether T, Durr A, Chneiweiss H, Enczmann J, Farall M, Beckmann J, Mullan M, Wernet P, Agid Y, Freund H-Y, Williamson R, Auburger G, Chamberlain S (1993) Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA-2) to chromosome 12q23-24.1. Nature Genet 4: 295-299
-
(1993)
Nature Genet
, vol.4
, pp. 295-299
-
-
Gispert, S.1
Twells, R.2
Orozco, G.3
Brice, A.4
Weber, J.5
Heredero, L.6
Scheufler, K.7
Riley, B.8
Allotey, R.9
Nothers, C.10
Hillermann, R.11
Lunkes, A.12
Khati, C.13
Stevanin, G.14
Hernandez, A.15
Magarino, C.16
Klockgether, T.17
Durr, A.18
Chneiweiss, H.19
Enczmann, J.20
Farall, M.21
Beckmann, J.22
Mullan, M.23
Wernet, P.24
Agid, Y.25
Freund, H.-Y.26
Williamson, R.27
Auburger, G.28
Chamberlain, S.29
more..
-
9
-
-
0028037806
-
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias
-
Giunti P, Sweeney MG, Spadaro M, Jodice C, Novelletto A, Malaspina P, Frontali M, Harding AE (1994) The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. Brain 117: 645-649
-
(1994)
Brain
, vol.117
, pp. 645-649
-
-
Giunti, P.1
Sweeney, M.G.2
Spadaro, M.3
Jodice, C.4
Novelletto, A.5
Malaspina, P.6
Frontali, M.7
Harding, A.E.8
-
10
-
-
0024853961
-
Olivopontocerebellar atrophy in a large Iakut kinship in eastern Siberia
-
Goldfarb LG, Chumakov MP, Petrov PA, Fedorova NI, Gajdusek DC (1989) Olivopontocerebellar atrophy in a large Iakut kinship in eastern Siberia. Neurology 39: 1527-1530
-
(1989)
Neurology
, vol.39
, pp. 1527-1530
-
-
Goldfarb, L.G.1
Chumakov, M.P.2
Petrov, P.A.3
Fedorova, N.I.4
Gajdusek, D.C.5
-
11
-
-
0029022025
-
Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD)
-
Haberhausen G, Damian MS, Leweke F, Müller U (1995) Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). J Neurol Sci 132: 71-75
-
(1995)
J Neurol Sci
, vol.132
, pp. 71-75
-
-
Haberhausen, G.1
Damian, M.S.2
Leweke, F.3
Müller, U.4
-
12
-
-
0019902437
-
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: A study of 11 families, including descendants of the "Drew family of Walworth"
-
Harding AE (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of the "Drew family of Walworth". Brain 105: 1-28
-
(1982)
Brain
, vol.105
, pp. 1-28
-
-
Harding, A.E.1
-
13
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61: 1-14
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
15
-
-
0028229119
-
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1
-
Jodice C, Malaspina P, Persichetti F, Noveletto A, Spadaro M, Giunti P, Morocutti C, Terrenato L, Harding AE, Frontali M (1994) Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1. Am J Hum Genet 54: 959-965
-
(1994)
Am J Hum Genet
, vol.54
, pp. 959-965
-
-
Jodice, C.1
Malaspina, P.2
Persichetti, F.3
Noveletto, A.4
Spadaro, M.5
Giunti, P.6
Morocutti, C.7
Terrenato, L.8
Harding, A.E.9
Frontali, M.10
-
16
-
-
0028143527
-
CAG expansions in a novel gene from Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A (1994) CAG expansions in a novel gene from Machado-Joseph disease at chromosome 14q32.1. Nature Genet 8: 221-228
-
(1994)
Nature Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
Kawakami, H.7
Nakamura, S.8
Nishimura, M.9
Akiguchi, I.10
Kimura, J.11
Narumiya, S.12
Kakizuka, A.13
-
17
-
-
0027158054
-
Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: Clinical and genetic analysis of 10 French families
-
Khati C, Stevanin G, Durr A, Chneiweiss H, Belal S, Seck A, Cann H, Brice A, Agid Y (1993) Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families. Neurology 43: 1131-1137
-
(1993)
Neurology
, vol.43
, pp. 1131-1137
-
-
Khati, C.1
Stevanin, G.2
Durr, A.3
Chneiweiss, H.4
Belal, S.5
Seck, A.6
Cann, H.7
Brice, A.8
Agid, Y.9
-
18
-
-
0027716371
-
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias
-
Matilla T, Volpini V, Genis D, Rosell J, Corral J, Davalos A, Molins A, Estivill X (1993) Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum Mol Genet 2: 2123-2128
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2123-2128
-
-
Matilla, T.1
Volpini, V.2
Genis, D.3
Rosell, J.4
Corral, J.5
Davalos, A.6
Molins, A.7
Estivill, X.8
-
19
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
20
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung M, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4: 221-226
-
(1993)
Nature Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.2
Banfi, S.3
Kwiatkowski, T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.9
Zoghbi, H.Y.10
-
21
-
-
0028100732
-
Molecular and clinical correlations in spinocerebellar ataxia type 1: Evidence for familial effects on the age at onset
-
Ranum LP, Chung M, Banfi S, Bryer A, Schut LJ, Ramesar R, Duvick LA, McCall A, Subramony SH, Goldfarb L, Gomez C, Sandkuijl LA, Orr HT, Zoghbi HY (1994) Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familial effects on the age at onset. Am J Hum Genet 55: 244-252
-
(1994)
Am J Hum Genet
, vol.55
, pp. 244-252
-
-
Ranum, L.P.1
Chung, M.2
Banfi, S.3
Bryer, A.4
Schut, L.J.5
Ramesar, R.6
Duvick, L.A.7
McCall, A.8
Subramony, S.H.9
Goldfarb, L.10
Gomez, C.11
Sandkuijl, L.A.12
Orr, H.T.13
Zoghbi, H.Y.14
-
22
-
-
0028020605
-
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
-
Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM (1994) Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 8: 280-284
-
(1994)
Nature Genet
, vol.8
, pp. 280-284
-
-
Ranum, L.P.1
Schut, L.J.2
Lundgren, J.K.3
Orr, H.T.4
Livingston, D.M.5
-
23
-
-
0023612410
-
Spinocerebellar ataxia: Localization of an autosomal dominant locus between two markers on human chromosome 6
-
Rich SS, Wilkie P, Schut L, Vance G, Orr HT (1987) Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6. Am J Hum Genet 41: 524-531
-
(1987)
Am J Hum Genet
, vol.41
, pp. 524-531
-
-
Rich, S.S.1
Wilkie, P.2
Schut, L.3
Vance, G.4
Orr, H.T.5
-
24
-
-
0028859878
-
Autosomal dominant cerebellar phenotypes: The genotype has settled the issue
-
Rosenberg RN (1995) Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology 45: 1-5
-
(1995)
Neurology
, vol.45
, pp. 1-5
-
-
Rosenberg, R.N.1
-
25
-
-
0028157908
-
A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter: Evidence for the existence of a fourth locus
-
Stevanin G, LeGuern E, Ravise N, Chneiweiss H, Durr A, Cancel G, Vignal A, Boch A-L, Ruberg M, Penet C, Pothin Y, Lagroua I, Haguenau M, Rancurel G, Weissenbach J, Agid Y, Brice A (1994) A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 54: 11-20
-
(1994)
Am J Hum Genet
, vol.54
, pp. 11-20
-
-
Stevanin, G.1
LeGuern, E.2
Ravise, N.3
Chneiweiss, H.4
Durr, A.5
Cancel, G.6
Vignal, A.7
Boch, A.-L.8
Ruberg, M.9
Penet, C.10
Pothin, Y.11
Lagroua, I.12
Haguenau, M.13
Rancurel, G.14
Weissenbach, J.15
Agid, Y.16
Brice, A.17
-
26
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, Kagawa Y, Kanazawa I, Mizuno Y, Yoshida M, Yuasa T, Horikawa Y, Oyanagi K, Nagai H, Kondo T, Inuzuka T, Onodera O, Tsuji S (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet 4: 300-304
-
(1993)
Nature Genet
, vol.4
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
Kawashima, S.4
Sakamoto, H.5
Karube, Y.6
Shimazaki, H.7
Soutome, M.8
Endo, K.9
Ohta, S.10
Kagawa, Y.11
Kanazawa, I.12
Mizuno, Y.13
Yoshida, M.14
Yuasa, T.15
Horikawa, Y.16
Oyanagi, K.17
Nagai, H.18
Kondo, T.19
Inuzuka, T.20
Onodera, O.21
Tsuji, S.22
more..
-
27
-
-
0024802071
-
Ethical issues policy statement on Huntington's disease molecular genetics predictive tests
-
World Federation of Neurology: Research Committee. Research Group on Huntington's disease (1989) Ethical issues policy statement on Huntington's disease molecular genetics predictive tests. J Neurol Sci 94: 327-32
-
(1989)
J Neurol Sci
, vol.94
, pp. 327-332
-
-
-
28
-
-
0023875234
-
Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred
-
Zoghbi HY, Pollack MS, Lyons LA, Ferrell RE, Daiger SP, Beaudet AL (1988) Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann Neurol 23: 580-584
-
(1988)
Ann Neurol
, vol.23
, pp. 580-584
-
-
Zoghbi, H.Y.1
Pollack, M.S.2
Lyons, L.A.3
Ferrell, R.E.4
Daiger, S.P.5
Beaudet, A.L.6
-
29
-
-
0025871615
-
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds
-
Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ, McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM, Frontali M, Terrenato L (1991) The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet 49: 23-30
-
(1991)
Am J Hum Genet
, vol.49
, pp. 23-30
-
-
Zoghbi, H.Y.1
Jodice, C.2
Sandkuijl, L.A.3
Kwiatkowski, T.J.4
McCall, A.E.5
Huntoon, S.A.6
Lulli, P.7
Spadaro, M.8
Litt, M.9
Cann, H.M.10
Frontali, M.11
Terrenato, L.12
|