-
1
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
Harding, A.E. (1983) Classification of the hereditary ataxias and paraplegias. Lancet, i, 1151-1155.
-
(1983)
Lancet
, vol.1
, pp. 1151-1155
-
-
Harding, A.E.1
-
2
-
-
34547390567
-
-
In press
-
Nielsen, J.E., Krabbe, K., Jennum, P., Koefoed, P., Neerup Jensen, L., Fenger, K., Eiberg, H., Hasholt, L., Werdelin, L. and Sørensen, S.A. (1997) J. Neurol. Neurosurg. Psychiatry. In press.
-
(1997)
J. Neurol. Neurosurg. Psychiatry
-
-
Nielsen, J.E.1
Krabbe, K.2
Jennum, P.3
Koefoed, P.4
Neerup Jensen, L.5
Fenger, K.6
Eiberg, H.7
Hasholt, L.8
Werdelin, L.9
Sørensen, S.A.10
-
3
-
-
0027363223
-
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
-
Hazan, J., Lamy, C., Melki, J., Munnich, A., de Recondo, J. and Weissenbach, J. (1993) Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nature Genet., 5, 163-167.
-
(1993)
Nature Genet.
, vol.5
, pp. 163-167
-
-
Hazan, J.1
Lamy, C.2
Melki, J.3
Munnich, A.4
De Recondo, J.5
Weissenbach, J.6
-
4
-
-
0027981739
-
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p21-p24
-
Hazan, J., Fontaine, B., Bruyn, R.P.M., Lamy, C., van Deutekom, J.C.T., Rime, C-S., Dürr, A., Melki, J., Lyon-Caen, O., Agid, Y., Munnich, A., Padberg, G.W., de Recondo, J., Frants, R.R., Brice, A. and Weissenbach, J. (1994) Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p21-p24. Hum. Mol. Genet., 3, 1569-1573.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1569-1573
-
-
Hazan, J.1
Fontaine, B.2
Bruyn, R.P.M.3
Lamy, C.4
Van Deutekom, J.C.T.5
Rime, C.-S.6
Dürr, A.7
Melki, J.8
Lyon-Caen, O.9
Agid, Y.10
Munnich, A.11
Padberg, G.W.12
De Recondo, J.13
Frants, R.R.14
Brice, A.15
Weissenbach, J.16
-
5
-
-
0028868126
-
Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q
-
Fink, J.K., Wu, C.B., Jones, S.M., Sharp, G.B., Lange, B.M., Lesicki, A., Reinglass, T., Varvil, T., Otterud, B. and Leppert, M. (1995) Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am. J. Hum. Genet., 56, 188-192.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 188-192
-
-
Fink, J.K.1
Wu, C.B.2
Jones, S.M.3
Sharp, G.B.4
Lange, B.M.5
Lesicki, A.6
Reinglass, T.7
Varvil, T.8
Otterud, B.9
Leppert, M.10
-
6
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
7
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's disease collaborative research group. (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell, 72, 971-983.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
8
-
-
0027164698
-
Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1
-
Orr, H.T., Chung, M., Banfi, S., Kwiatkowski Jr, T.J., Servadio, A., Beaudet, A.L., McCall, A.E., Duvick, L.A., Ranum, L.P.W. and Zoghbi, H.Y. (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 Jr., T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.W.9
Zoghbi, H.Y.10
-
9
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y, Gamier. J-M., Weber, C., Mandel, J-L., Cancel, G., Abbas, N., Dürr, A., Didierjean, O., Stevanin, G., Agid, Y. and Brice. A. (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet., 11, 285-291.
-
(1996)
Nature Genet.
, vol.11
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Gamier, J.-M.6
Weber, C.7
Mandel, J.-L.8
Cancel, G.9
Abbas, N.10
Dürr, A.11
Didierjean, O.12
Stevanin, G.13
Agid, Y.14
Brice, A.15
-
10
-
-
0031012399
-
1A-voltage-dependent calcium channel
-
1A-voltage-dependent calcium channel. Nature Genet., 15, 62-69.
-
(1997)
Nature Genet.
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
-
11
-
-
0028143527
-
CAG expansions in a novel gene for 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. and Kakizuka, A. (1994) CAG expansions in a novel gene for 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
-
12
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F. and Tsuji, S. (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet., 6, 9-13.
-
(1994)
Nature Genet.
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Takahashi, H.7
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
Saito, M.11
Tomoda, A.12
Miike, T.13
Naito, H.14
Ikuta, F.15
Tsuji, S.16
-
13
-
-
0030935035
-
The Likelihood of Being Affected with Huntington Disease by a Particular Age, for a Specific CAG Size
-
Brinkman, R.R., Mezei, M.M., Theilmann, J., Almquist, E. and Hayden, M.R. (1997) The Likelihood of Being Affected with Huntington Disease by a Particular Age, for a Specific CAG Size. Am. J. Hum. Genet., 60, 1202-1210.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1202-1210
-
-
Brinkman, R.R.1
Mezei, M.M.2
Theilmann, J.3
Almquist, E.4
Hayden, M.R.5
-
14
-
-
0027256423
-
Direct detection of novel expanded trinucleotide repeats in the human genome
-
Schalling, M., Hudson, T.J., Buetow, K.H. and Housman, D.E. (1993) Direct detection of novel expanded trinucleotide repeats in the human genome. Nature Genet., 4, 135-139.
-
(1993)
Nature Genet.
, vol.4
, pp. 135-139
-
-
Schalling, M.1
Hudson, T.J.2
Buetow, K.H.3
Housman, D.E.4
-
15
-
-
16144363213
-
An expanded CAG repeat sequence in spinocerebellar ataxia type 7
-
Lindblad, K., Savontaus, M-L., Stevanin, G., Holmberg, M., Digre, K., Zander, C., Ehrsson, H., David, G., Benomar, A., Nikoskelainen, E., Trottier, Y., Holmgren, G., Ptacek, L.J., Anttinen, A., Brice, A. and Schalling, M. (1996) An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res., 6, 965-971.
-
(1996)
Genome Res.
, vol.6
, pp. 965-971
-
-
Lindblad, K.1
Savontaus, M.-L.2
Stevanin, G.3
Holmberg, M.4
Digre, K.5
Zander, C.6
Ehrsson, H.7
David, G.8
Benomar, A.9
Nikoskelainen, E.10
Trottier, Y.11
Holmgren, G.12
Ptacek, L.J.13
Anttinen, A.14
Brice, A.15
Schalling, M.16
-
16
-
-
0029240699
-
Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method
-
Lindblad, K., Nylander, P-O., De bryun, A., Sourey, D., Zander, C., Engström, C., Holmgren, G., Hudson, T., Chotai, J., Mendlewicz, J., Van Broeckhoven, C., Schalling, M. and Adolfsson, R. (1995) Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method. Neurobiol., 2, 55-62.
-
(1995)
Neurobiol.
, vol.2
, pp. 55-62
-
-
Lindblad, K.1
Nylander, P.-O.2
De Bryun, A.3
Sourey, D.4
Zander, C.5
Engström, C.6
Holmgren, G.7
Hudson, T.8
Chotai, J.9
Mendlewicz, J.10
Van Broeckhoven, C.11
Schalling, M.12
Adolfsson, R.13
-
17
-
-
0028784037
-
CAG repeat expansions and schizophrenia: Association with disease in females and with early age-at-onset
-
Morris, A.G., Gaitonde, E., McKenna, P.J., Mollon, J.D. and Hunt, D.M. (1995) CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset. Hum. Mol. Genet., 4, 1957-1961.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1957-1961
-
-
Morris, A.G.1
Gaitonde, E.2
McKenna, P.J.3
Mollon, J.D.4
Hunt, D.M.5
-
18
-
-
0028787434
-
No evidence for association of familial Parkinson's disease with CAG repeat expansion
-
Carrero-Valenzuela, R., Lindblad, K., Payami, H., Johnson, W., Schalling, M., Steenroos, E.S., Shattuc, S., Nutt, J., Brice, A. and Litt, M (1995) No evidence for association of familial Parkinson's disease with CAG repeat expansion. Neurology, 45, 1760-1763.
-
(1995)
Neurology
, vol.45
, pp. 1760-1763
-
-
Carrero-Valenzuela, R.1
Lindblad, K.2
Payami, H.3
Johnson, W.4
Schalling, M.5
Steenroos, E.S.6
Shattuc, S.7
Nutt, J.8
Brice, A.9
Litt, M.10
-
19
-
-
16944364249
-
Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families
-
Keen, T.J., Morris, A.G. and Inglehearn, C.F. (1997) Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families. J. Med. Genet., 34, 130-132.
-
(1997)
J. Med. Genet.
, vol.34
, pp. 130-132
-
-
Keen, T.J.1
Morris, A.G.2
Inglehearn, C.F.3
-
20
-
-
0029669181
-
Mutation detection in Machado-Joseph disease using repeat expansion detection
-
Lindblad, K., Lunkes, A., Maciel, P., Stevanin, G., Zander, C., Klockgether, T., Ratzlaff, T., Brice, A., Rouleau, G.A., Hudson, T., Auburger, G. and Schalling, M. (1996) Mutation detection in Machado-Joseph disease using repeat expansion detection. Mol. Med., 2, 77-85.
-
(1996)
Mol. Med.
, vol.2
, pp. 77-85
-
-
Lindblad, K.1
Lunkes, A.2
Maciel, P.3
Stevanin, G.4
Zander, C.5
Klockgether, T.6
Ratzlaff, T.7
Brice, A.8
Rouleau, G.A.9
Hudson, T.10
Auburger, G.11
Schalling, M.12
-
21
-
-
0029298231
-
Gain of glutamines, gain of function?
-
Housman, D. (1995) Gain of glutamines, gain of function? Nature Genet., 10, 3-4.
-
(1995)
Nature Genet.
, vol.10
, pp. 3-4
-
-
Housman, D.1
-
22
-
-
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., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L., Agid, Y., Brice, A. and Mandel, J-L. (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature, 378, 403-406.
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottier, Y.1
Lutz, Y.2
Stevanin, G.3
Imbert, G.4
Devys, D.5
Cancel, G.6
Saudou, F.7
Weber, C.8
David, G.9
Tora, L.10
Agid, Y.11
Brice, A.12
Mandel, J.-L.13
-
23
-
-
10544253082
-
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias
-
Stevanin, G., Trottier, Y., Cancel, G., Dürr, A., David, G., Didierjean, O., Bürk, K., Imbert, G., Saudou, F., Abada-Bendib, M., Gourfinkel-An, I., Benomar, A., Abbas, N., Klockgether, T., Grid, D., Agid, Y., Mandel, J-L. and Brice, A. (1996) Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Hum. Mol. Genet., 5, 1887-1892.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1887-1892
-
-
Stevanin, G.1
Trottier, Y.2
Cancel, G.3
Dürr, A.4
David, G.5
Didierjean, O.6
Bürk, K.7
Imbert, G.8
Saudou, F.9
Abada-Bendib, M.10
Gourfinkel-An, I.11
Benomar, A.12
Abbas, N.13
Klockgether, T.14
Grid, D.15
Agid, Y.16
Mandel, J.-L.17
Brice, A.18
-
24
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller, S.A., Dykes, D.D. and Polesky, H.F. (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
-
25
-
-
13344259999
-
The Généthon human genetic linkage map
-
Dib, C., Fauré, S., Fizames, C., Samson, D., Drouot, N., Vignal, A., Millasseau, P., Marc, S., Hazan, J., Seboun, E., Lathrop, M., Gyapay, G., Morisette, J. and Weissenbach, J. (1996) The Généthon human genetic linkage map. Nature, 380, 152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morisette, J.13
Weissenbach, J.14
-
26
-
-
0028260703
-
Avoiding recomputation in linkage analysis
-
Schäffer, A.A., Gupta, S.K., Shriram, K. and Cottingham, R.W. (1994) Avoiding recomputation in linkage analysis. Hum. Hered., 44, 225-237.
-
(1994)
Hum. Hered.
, vol.44
, pp. 225-237
-
-
Schäffer, A.A.1
Gupta, S.K.2
Shriram, K.3
Cottingham, R.W.4
-
27
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of bacteriophage T4
-
Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 227, 680-685.
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, U.K.1
-
28
-
-
0009482260
-
Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and applications
-
Towbin, H., Staehlin, T and Gorden, J. (1979) Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and applications. Proc. Natl. Acad. Sci. USA, 76, 4350-4354.
-
(1979)
Proc. Natl. Acad. Sci. USA
, vol.76
, pp. 4350-4354
-
-
Towbin, H.1
Staehlin, T.2
Gorden, J.3
|