-
1
-
-
0029584496
-
Trinucleotide repeat expansion and human disease
-
Ashley CTJ, Warren ST: Trinucleotide repeat expansion and human disease. Annu Rev Genet 1995, 29:703-728.
-
(1995)
Annu Rev Genet
, vol.29
, pp. 703-728
-
-
Ashley, C.T.J.1
Warren, S.T.2
-
2
-
-
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 et al.: The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet 1993, 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
-
3
-
-
0028157908
-
A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: Evidence for the existence of a fourth locus
-
Stevanin G, Le Guern E, Ravise N, Chneiweiss H, Durr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C et al.: A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994, 54:11-20.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 11-20
-
-
Stevanin, G.1
Le Guern, 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
-
4
-
-
0028535670
-
The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q
-
Stevanin G, Sousa PS, Cancel G, Durr A, Dubourg O, Nicholson GA, Weissenbach J, Jardim E, Agid Y, Cassa E, Brice A: The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q. Neurobiol Dis 1994, 1:79-82.
-
(1994)
Neurobiol Dis
, vol.1
, pp. 79-82
-
-
Stevanin, G.1
Sousa, P.S.2
Cancel, G.3
Durr, A.4
Dubourg, O.5
Nicholson, G.A.6
Weissenbach, J.7
Jardim, E.8
Agid, Y.9
Cassa, E.10
Brice, A.11
-
5
-
-
0028873803
-
The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2
-
Stevamn G, Cancel G, Durr A, Chneiweiss H, Dubourg O, Weissenbach J, Cann HM, Agid Y, Brice A: The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2. Am J Hum Genet 1995, 56:193-201.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 193-201
-
-
Stevamn, G.1
Cancel, G.2
Durr, A.3
Chneiweiss, H.4
Dubourg, O.5
Weissenbach, J.6
Cann, H.M.7
Agid, Y.8
Brice, A.9
-
6
-
-
0028890672
-
Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families
-
Sasaki H, Wakisaka A, Takada A, Yoshiki T, Ihara T, Suzuki Y, Hamada T, Iwabuchi K, Onari K, Tada J et al.: Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families. Am J Hum Genet 1995, 56: 231-242.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 231-242
-
-
Sasaki, H.1
Wakisaka, A.2
Takada, A.3
Yoshiki, T.4
Ihara, T.5
Suzuki, Y.6
Hamada, T.7
Iwabuchi, K.8
Onari, K.9
Tada, J.10
-
7
-
-
0028143527
-
CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue I, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I et al.: CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994, 8:221-227.
-
(1994)
Nature Genet
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, I.5
Katayama, S.6
Kawakami, H.7
Nakamura, S.8
Nishimura, M.9
Akiguchi, I.10
-
8
-
-
0029151475
-
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus
-
Cancel G, Abbas N, Stevanin G, Durr A, Chneiweiss H, Neri C, Duyckaerts C, Penet C, Cann HM, Agid Y, Brice A: Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am J Hum Genet 1995, 57:809-816. This study underlines the phenotypic variability in SCA3-MJD patients and shows the presence of somatic and gonadal mosaicism of the expanded CAG repeat.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 809-816
-
-
Cancel, G.1
Abbas, N.2
Stevanin, G.3
Durr, A.4
Chneiweiss, H.5
Neri, C.6
Duyckaerts, C.7
Penet, C.8
Cann, H.M.9
Agid, Y.10
Brice, A.11
-
9
-
-
0029127587
-
Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany
-
Schols L, Amoiridis G, Langkafel M, Buttner T, Przuntek H, Riess O, Vieira-Saecker AM, Epplen JT: Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany [Letter]. J Neurol Neurosurg Psychiatry 1995, 59:449-450.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.59
, pp. 449-450
-
-
Schols, L.1
Amoiridis, G.2
Langkafel, M.3
Buttner, T.4
Przuntek, H.5
Riess, O.6
Vieira-Saecker, A.M.7
Epplen, J.T.8
-
10
-
-
0029006340
-
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease
-
Matilla T, McCall A, Subramony SH, Zoghbi HY: Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol 1995, 38:68-72.
-
(1995)
Ann Neurol
, vol.38
, pp. 68-72
-
-
Matilla, T.1
McCall, A.2
Subramony, S.H.3
Zoghbi, H.Y.4
-
11
-
-
0029134871
-
Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant recessive, or sporadic ataxia
-
Ranum LP, Lundgren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT: Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant recessive, or sporadic ataxia. Am J Hum Genet 1995, 57:603-608.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 603-608
-
-
Ranum, L.P.1
Lundgren, J.K.2
Schut, L.J.3
Ahrens, M.J.4
Perlman, S.5
Aita, J.6
Bird, T.D.7
Gomez, C.8
Orr, H.T.9
-
12
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular and neuropathological features
-
Durr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, Chneiweiss H, Benomar A, Lyon-Caen O, Julien J et al.: Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features. Ann Neurol 1996, 39:490-499. This study establishes a correlation between the number of CAG repeats and the clinical phenotype of SCA3-MJD patients and provides evidence for neuropathological differences without clinical correlation between SCA1 and SCA3-MJD patients.
-
(1996)
Ann Neurol
, vol.39
, pp. 490-499
-
-
Durr, A.1
Stevanin, G.2
Cancel, G.3
Duyckaerts, C.4
Abbas, N.5
Didierjean, O.6
Chneiweiss, H.7
Benomar, A.8
Lyon-Caen, O.9
Julien, J.10
-
13
-
-
9344245162
-
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
-
Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE et al.: Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 1996, 46:214-218.
-
(1996)
Neurology
, vol.46
, pp. 214-218
-
-
Silveira, I.1
Lopes-Cendes, I.2
Kish, S.3
Maciel, P.4
Gaspar, C.5
Coutinho, P.6
Botez, M.I.7
Teive, H.8
Arruda, W.9
Steiner, C.E.10
-
14
-
-
0029991809
-
Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease
-
Higgins JJ, Nee LE, Vasconcelos O, Ide SE, Lavedan C, Goldfarb LG, Polymeropoulos MH: Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology 1996, 46:208-213.
-
(1996)
Neurology
, vol.46
, pp. 208-213
-
-
Higgins, J.J.1
Nee, L.E.2
Vasconcelos, O.3
Ide, S.E.4
Lavedan, C.5
Goldfarb, L.G.6
Polymeropoulos, M.H.7
-
15
-
-
0028787581
-
Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: Evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation
-
Stevanin G, Cancel G, Didierjean O, Durr A, Abbas N, Cassa E, Feingold J, Agid Y, Brice A: Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. Am J Hum Genet 1995, 57:1247-1250. The demonstration of a founder effect in French SCA3-MJD families, but the presence of at least two distinct founders for Portuguese MJD patients.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1247-1250
-
-
Stevanin, G.1
Cancel, G.2
Didierjean, O.3
Durr, A.4
Abbas, N.5
Cassa, E.6
Feingold, J.7
Agid, Y.8
Brice, A.9
-
16
-
-
0029009456
-
Evidence for intergenerational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
-
Takiyama Y, Igarashi S, Rogaeva EA, Endo K, Rogaev EI, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M et al.: Evidence for intergenerational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 1995, 4:1137-1146. Analysis of white and Japanese patients with MJD suggests the existence of common founders and establishes that the clinical phenotype varies according to the number of CAG repeats on the expanded allele.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1137-1146
-
-
Takiyama, Y.1
Igarashi, S.2
Rogaeva, E.A.3
Endo, K.4
Rogaev, E.I.5
Tanaka, H.6
Sherrington, R.7
Sanpei, K.8
Liang, Y.9
Saito, M.10
-
17
-
-
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, Laszlo T et al.: Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 1995, 378:403-406. A demonstration, by the use of a monoclonal antibody directed against long glutamine tracts, that the SCA2 and SCA7 subtypes of ADCAs are caused by polyglutamine expansion. This antibody constitutes an invaluable tool for the identification of the corresponding genes and the analysis of pathophysiology of disorders caused by polyglutamine expansion.
-
(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
Laszlo, T.10
-
18
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) 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 et al.: Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet 1993, 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
-
19
-
-
0029148926
-
Localization of the candidate gene D-amino acid oxidase outside the refined I-cM region of spinocerebellar ataxia 2
-
Gispert S, Lunkes A, Santos N, Orozco G, Ha-Hao D, Ratzlaff T, Aguiar J, Torrens I, Heredero L, Brice A et al.: Localization of the candidate gene D-amino acid oxidase outside the refined I-cM region of spinocerebellar ataxia 2. Am J Hum Genet 1995, 57:972-975.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 972-975
-
-
Gispert, S.1
Lunkes, A.2
Santos, N.3
Orozco, G.4
Ha-Hao, D.5
Ratzlaff, T.6
Aguiar, J.7
Torrens, I.8
Heredero, L.9
Brice, A.10
-
20
-
-
0028953843
-
Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1
-
Hernandez A, Magarino C, Gispert S, Santos N, Lunkes A, Orozco G, Heredero L, Beckmann J, Auburger G: Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1. Genomics 1995, 25:433-435.
-
(1995)
Genomics
, vol.25
, pp. 433-435
-
-
Hernandez, A.1
Magarino, C.2
Gispert, S.3
Santos, N.4
Lunkes, A.5
Orozco, G.6
Heredero, L.7
Beckmann, J.8
Auburger, G.9
-
21
-
-
0029611008
-
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
-
Durr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, Bellance R, Buisson GG, Chneiweiss H, Dellanave J et al.: Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 1995, 118:1573-1581.
-
(1995)
Brain
, vol.118
, pp. 1573-1581
-
-
Durr, A.1
Smadja, D.2
Cancel, G.3
Lezin, A.4
Stevanin, G.5
Mikol, J.6
Bellance, R.7
Buisson, G.G.8
Chneiweiss, H.9
Dellanave, J.10
-
22
-
-
0029173928
-
Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: Spinocerebellar ataxia type 2)
-
Durr A, Brice A, Lepage-Lezin A, Cancel G, Smadja D, Vernant JC, Agid Y: Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2). Clin Neurosci 1995, 3:12-16.
-
(1995)
Clin Neurosci
, vol.3
, pp. 12-16
-
-
Durr, A.1
Brice, A.2
Lepage-Lezin, A.3
Cancel, G.4
Smadja, D.5
Vernant, J.C.6
Agid, Y.7
-
23
-
-
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, Le Guern E, David G, Ouhabi H, Martin JJ, Durr A, Zaim A et al.: The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nature Genet 1995, 10:84-88. Mapping of the gene for ADCA type II to chromosome 3p in Moroccan, Belgian and French families with marked anticipation.
-
(1995)
Nature Genet
, vol.10
, pp. 84-88
-
-
Benomar, A.1
Krols, L.2
Stevanin, G.3
Cancel, G.4
Le Guern, E.5
David, G.6
Ouhabi, H.7
Martin, J.J.8
Durr, A.9
Zaim, A.10
-
24
-
-
0029048660
-
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
-
Gouw LG, Kaplan CD, Haines JH, Digre KB, Rutledge SL, Matilla A, Leppert M, Zoghbi HY, Ptacek LJ: Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nature Genet 1995, 10:89-93. Independent mapping of the SCA7 gene for ADCA with progressive macular degeneration on chromosome 3p in white and African-American families.
-
(1995)
Nature Genet
, vol.10
, pp. 89-93
-
-
Gouw, L.G.1
Kaplan, C.D.2
Haines, J.H.3
Digre, K.B.4
Rutledge, S.L.5
Matilla, A.6
Leppert, M.7
Zoghbi, H.Y.8
Ptacek, L.J.9
-
25
-
-
0029117960
-
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1
-
Holmberg M, Johansson J, Forsgren L, Heijbel J, Sandgren O, Holmgren G: Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet 1995, 4:1441-1445.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1441-1445
-
-
Holmberg, M.1
Johansson, J.2
Forsgren, L.3
Heijbel, J.4
Sandgren, O.5
Holmgren, G.6
-
26
-
-
0028304397
-
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families
-
Enevoldson TP, Sanders MD, Harding AE: Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain 1994, 117:445-460.
-
(1994)
Brain
, vol.117
, pp. 445-460
-
-
Enevoldson, T.P.1
Sanders, M.D.2
Harding, A.E.3
-
27
-
-
0028353818
-
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I
-
Benomar A, Le Guern E, Durr A, Ouhabi H, Stevanin G, Yahyaoui M, Chkili T, Agid Y, Brice A: Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. Ann Neurol 1994, 35:439-444.
-
(1994)
Ann Neurol
, vol.35
, pp. 439-444
-
-
Benomar, A.1
Le Guern, E.2
Durr, A.3
Ouhabi, H.4
Stevanin, G.5
Yahyaoui, M.6
Chkili, T.7
Agid, Y.8
Brice, A.9
-
28
-
-
0028169646
-
Autosomal dominant cerebellar ataxia with retinal degeneration: Clinical, neuropathologic, and genetic analysis of a large kindred
-
Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ: Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology 1994, 44:1441-1447.
-
(1994)
Neurology
, vol.44
, pp. 1441-1447
-
-
Gouw, L.G.1
Digre, K.B.2
Harris, C.P.3
Haines, J.H.4
Ptacek, L.J.5
-
29
-
-
0029042742
-
Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
-
Maruyama H, Nakamura S, Matsuyama Z, Sakai T, Doyu M, Sobue G, Seto M, Tsujihata M, Oh-i T, Nishio T et al.: Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 1995, 4:807-812.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 807-812
-
-
Maruyama, H.1
Nakamura, S.2
Matsuyama, Z.3
Sakai, T.4
Doyu, M.5
Sobue, G.6
Seto, M.7
Tsujihata, M.8
Oh-i, T.9
Nishio, T.10
-
30
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J, Dawson DM, Sudarsky L, Guimaraes J, Loureiro JE et al.: Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 1995, 57:54-61.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 54-61
-
-
Maciel, P.1
Gaspar, C.2
DeStefano, A.L.3
Silveira, I.4
Coutinho, P.5
Radvany, J.6
Dawson, D.M.7
Sudarsky, L.8
Guimaraes, J.9
Loureiro, J.E.10
-
31
-
-
0028025275
-
Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus
-
Belal S, Cancel G, Stevanin G, Hentati F, Khati C, Ben Hamida C, Auburger G, Agid Y, Ben Hamida M, Brice A: Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology 1994, 44:1423-1426.
-
(1994)
Neurology
, vol.44
, pp. 1423-1426
-
-
Belal, S.1
Cancel, G.2
Stevanin, G.3
Hentati, F.4
Khati, C.5
Ben Hamida, C.6
Auburger, G.7
Agid, Y.8
Ben Hamida, M.9
Brice, A.10
-
32
-
-
0028215542
-
Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region
-
Lopes-Cendes I, Andermann E, Attig E, Cendes F, Bosch S, Wagner M, Gerstenbrand F, Andermann F, Rouleau GA: Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region. Am J Hum Genet 1994, 54:774-781.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 774-781
-
-
Lopes-Cendes, I.1
Andermann, E.2
Attig, E.3
Cendes, F.4
Bosch, S.5
Wagner, M.6
Gerstenbrand, F.7
Andermann, F.8
Rouleau, G.A.9
-
33
-
-
0028901773
-
Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family
-
Filla A, De Michele G, Banfi S, Santoro L, Perretti A, Cavalcanti F, Pianese L, Castaldo I, Barbieri F, Campanella G, Cocozza S: Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 1995, 45:793-796.
-
(1995)
Neurology
, vol.45
, pp. 793-796
-
-
Filla, A.1
De Michele, G.2
Banfi, S.3
Santoro, L.4
Perretti, A.5
Cavalcanti, F.6
Pianese, L.7
Castaldo, I.8
Barbieri, F.9
Campanella, G.10
Cocozza, S.11
-
34
-
-
13344268998
-
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated sca2 families
-
Lezin A, Cancel G, Stevanin G, Smadja D, Vernant JC, Durr A, Martial J, Buisson GG, Bellance R, Chneiweiss H et al.: Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated sca2 families. Hum Genet 1996, 97:671-676.
-
(1996)
Hum Genet
, vol.97
, pp. 671-676
-
-
Lezin, A.1
Cancel, G.2
Stevanin, G.3
Smadja, D.4
Vernant, J.C.5
Durr, A.6
Martial, J.7
Buisson, G.G.8
Bellance, R.9
Chneiweiss, H.10
-
35
-
-
0029090063
-
Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion
-
Tuite PJ, Rogaeva EA, St George-Hyslop PH, Lang AE: Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Ann Neurol 1995, 38:684-687.
-
(1995)
Ann Neurol
, vol.38
, pp. 684-687
-
-
Tuite, P.J.1
Rogaeva, E.A.2
St George-Hyslop, P.H.3
Lang, A.E.4
-
36
-
-
0029044667
-
Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
-
Ikeuchi T, Koide R, Tanaka H, Onodera O, Igarashi S, Takahashi H, Kondo R, Ishikawa A, Tomoda A, Miike T et al.: Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 1995, 37:769-775.
-
(1995)
Ann Neurol
, vol.37
, pp. 769-775
-
-
Ikeuchi, T.1
Koide, R.2
Tanaka, H.3
Onodera, O.4
Igarashi, S.5
Takahashi, H.6
Kondo, R.7
Ishikawa, A.8
Tomoda, A.9
Miike, T.10
-
37
-
-
0028815025
-
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
-
Komure O, Sano A, Nishino N, Yamauchi N, Ueno S, Kondoh K, Sano N, Takahashi M, Murayama N, Kondo I et al.: DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 1995, 45:143-149.
-
(1995)
Neurology
, vol.45
, pp. 143-149
-
-
Komure, O.1
Sano, A.2
Nishino, N.3
Yamauchi, N.4
Ueno, S.5
Kondoh, K.6
Sano, N.7
Takahashi, M.8
Murayama, N.9
Kondo, I.10
-
38
-
-
0028958153
-
A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families
-
Warner TT, Williams LD, Walker RW, Flinter F, Robb SA, Bundey SE, Honavar M, Harding AE: A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. Ann Neurol 1995, 37:452-459.
-
(1995)
Ann Neurol
, vol.37
, pp. 452-459
-
-
Warner, T.T.1
Williams, L.D.2
Walker, R.W.3
Flinter, F.4
Robb, S.A.5
Bundey, S.E.6
Honavar, M.7
Harding, A.E.8
-
39
-
-
0028797080
-
Molecular and clinical findings in a family with dentatorubralpallidoluysian atrophy
-
Potter NT, Meyer MA, Zimmerman AW, Eisenstadt ML, Anderson IJ: Molecular and clinical findings in a family with dentatorubralpallidoluysian atrophy. Ann Neurol 1995, 37:273-277.
-
(1995)
Ann Neurol
, vol.37
, pp. 273-277
-
-
Potter, N.T.1
Meyer, M.A.2
Zimmerman, A.W.3
Eisenstadt, M.L.4
Anderson, I.J.5
-
40
-
-
0028927926
-
Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallidoluysian atrophy
-
Norremolle A, Nielsen JE, Sorensen SA, Hasholt L: Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallidoluysian atrophy. Hum Genet 1995, 95:313-818.
-
(1995)
Hum Genet
, vol.95
, pp. 313-818
-
-
Norremolle, A.1
Nielsen, J.E.2
Sorensen, S.A.3
Hasholt, L.4
-
41
-
-
0028107864
-
Mutation analysis in patients with possible but apparently sporadic Huntington's disease
-
Davis MB, Bateman D, Quinn NP, Marsden CD, Harding AE: Mutation analysis in patients with possible but apparently sporadic Huntington's disease. Lancet 1994, 344:714-717.
-
(1994)
Lancet
, vol.344
, pp. 714-717
-
-
Davis, M.B.1
Bateman, D.2
Quinn, N.P.3
Marsden, C.D.4
Harding, A.E.5
-
42
-
-
0028985055
-
Diagnosis of 'sporadic' Huntington's disease
-
Durr A, Dode C, Hahn V, Pecheux C, Pillon B, Feingold J, Kaplan JC, Agid Y, Brice A: Diagnosis of 'sporadic' Huntington's disease. J Neurol Sci 1995, 129:51-55.
-
(1995)
J Neurol Sci
, vol.129
, pp. 51-55
-
-
Durr, A.1
Dode, C.2
Hahn, V.3
Pecheux, C.4
Pillon, B.5
Feingold, J.6
Kaplan, J.C.7
Agid, Y.8
Brice, A.9
-
43
-
-
0028919612
-
Molecular diagnostic analysis for Huntington's disease: A prospective evaluation
-
MacMillan JC, Davies P, Harper PS: Molecular diagnostic analysis for Huntington's disease: a prospective evaluation. J Neurol Neurosurg Psychiatry 1995, 58:496-498.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.58
, pp. 496-498
-
-
MacMillan, J.C.1
Davies, P.2
Harper, P.S.3
-
44
-
-
0029084672
-
Characterization of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease
-
Stevanin G, Cassa E, Cancel G, Abbas N, Durr A, Jardim E, Agid Y, Sousa PS, Brice A: Characterization of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease. J Med Genet 1995, 32: 827-830.
-
(1995)
J Med Genet
, vol.32
, pp. 827-830
-
-
Stevanin, G.1
Cassa, E.2
Cancel, G.3
Abbas, N.4
Durr, A.5
Jardim, E.6
Agid, Y.7
Sousa, P.S.8
Brice, A.9
-
45
-
-
0028882406
-
Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth
-
Giunti P, Sweeney MG, Harding AE: Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth. Brain 1995, 118:1077-1085.
-
(1995)
Brain
, vol.118
, pp. 1077-1085
-
-
Giunti, P.1
Sweeney, M.G.2
Harding, A.E.3
-
46
-
-
0029084074
-
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum
-
Leeflang EP, Zhang L, Tavare S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, de Young M, Wexler NS, Gusella JF, Arnheim N: Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum Mol Genet 1995, 4:1519-1526.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1519-1526
-
-
Leeflang, E.P.1
Zhang, L.2
Tavare, S.3
Hubert, R.4
Srinidhi, J.5
MacDonald, M.E.6
Myers, R.H.7
De Young, M.8
Wexler, N.S.9
Gusella, J.F.10
Arnheim, N.11
-
47
-
-
0027435939
-
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease
-
Myers RH, MacDonald ME, Koroshetz WJ, Duyao MP, Ambrose CM, Taylor SA, Barnes G, Srinidhi J, Lin CS, Whaley WL et al.: De novo expansion of a (CAG)n repeat in sporadic Huntington's disease [see comments]. Nature Genet 1993, 5:168-173.
-
(1993)
Nature Genet
, vol.5
, pp. 168-173
-
-
Myers, R.H.1
MacDonald, M.E.2
Koroshetz, W.J.3
Duyao, M.P.4
Ambrose, C.M.5
Taylor, S.A.6
Barnes, G.7
Srinidhi, J.8
Lin, C.S.9
Whaley, W.L.10
-
48
-
-
0027359989
-
Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects
-
Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius H, Adam S, Sajoo A, Starr E, et al.: Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects [see comments]. Nature Genet 1993, 5:174-179.
-
(1993)
Nature Genet
, vol.5
, pp. 174-179
-
-
Goldberg, Y.P.1
Kremer, B.2
Andrew, S.E.3
Theilmann, J.4
Graham, R.K.5
Squitieri, F.6
Telenius, H.7
Adam, S.8
Sajoo, A.9
Starr, E.10
-
49
-
-
0028882509
-
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
-
Goldberg YP, McMurray CT, Zeisler J, Almqvist E, Sillence D, Richards F, Gacy AM, Buchanan J, Telenius H, Hayden MR: Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 1995, 4:1911-1918.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1911-1918
-
-
Goldberg, Y.P.1
McMurray, C.T.2
Zeisler, J.3
Almqvist, E.4
Sillence, D.5
Richards, F.6
Gacy, A.M.7
Buchanan, J.8
Telenius, H.9
Hayden, M.R.10
-
50
-
-
0029089172
-
When more is less: Pathogenesis of glutamine repeat, neurodegenerative diseases
-
Ross CA: When more is less: pathogenesis of glutamine repeat, neurodegenerative diseases. Neuron 1995, 15:493-496.
-
(1995)
Neuron
, vol.15
, pp. 493-496
-
-
Ross, C.A.1
-
51
-
-
0028904293
-
Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein
-
Jou YS, Myers RM: Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein. Hum Mol Genet 1995, 4:465-469.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 465-469
-
-
Jou, Y.S.1
Myers, R.M.2
-
52
-
-
0029055601
-
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
-
Trottier Y, Devys D, Imbert G, Saudou F, An I, Lutz Y, Weber C, Agid Y, Hirsch EC, Mandel JL: Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form [see comments]. Nature Genet 1995, 10:104-110.
-
(1995)
Nature Genet
, vol.10
, pp. 104-110
-
-
Trottier, Y.1
Devys, D.2
Imbert, G.3
Saudou, F.4
An, I.5
Lutz, Y.6
Weber, C.7
Agid, Y.8
Hirsch, E.C.9
Mandel, J.L.10
-
53
-
-
0028989602
-
Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons
-
DiFiglia M, Sapp E, Chase K, Schwarz C, Meloni A, Young C, Martin E, Vonsattel JP, Carraway R, Reeves SA et al.: Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 1995, 14:1075-1081.
-
(1995)
Neuron
, vol.14
, pp. 1075-1081
-
-
DiFiglia, M.1
Sapp, E.2
Chase, K.3
Schwarz, C.4
Meloni, A.5
Young, C.6
Martin, E.7
Vonsattel, J.P.8
Carraway, R.9
Reeves, S.A.10
-
54
-
-
0029034511
-
Widespread expression of Huntington's disease gene (IT15) protein product
-
Sharp AH, Loev SJ, Schilling G, Li SH, Li XJ, Bao J, Wagster MV, Kotzuk JA, Steiner JP, Lo A et al.: Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 1995, 14:1065-1074.
-
(1995)
Neuron
, vol.14
, pp. 1065-1074
-
-
Sharp, A.H.1
Loev, S.J.2
Schilling, G.3
Li, S.H.4
Li, X.J.5
Bao, J.6
Wagster, M.V.7
Kotzuk, J.A.8
Steiner, J.P.9
Lo, A.10
-
55
-
-
0028829596
-
CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain
-
Aronin N, Chase K, Young C, Sapp E, Schwarz C, Matta N, Kornreich R, Landwehrmeyer B, Bird E, Beal MF et al.: CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain. Neuron 1995, 15:1193-1201.
-
(1995)
Neuron
, vol.15
, pp. 1193-1201
-
-
Aronin, N.1
Chase, K.2
Young, C.3
Sapp, E.4
Schwarz, C.5
Matta, N.6
Kornreich, R.7
Landwehrmeyer, B.8
Bird, E.9
Beal, M.F.10
-
56
-
-
0029014180
-
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
-
Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT, Zoghbi HY: Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals [see comments]. Nature Genet 1995, 10:94-98.
-
(1995)
Nature Genet
, vol.10
, pp. 94-98
-
-
Servadio, A.1
Koshy, B.2
Armstrong, D.3
Antalffy, B.4
Orr, H.T.5
Zoghbi, H.Y.6
-
57
-
-
0029015557
-
Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain
-
Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I: Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain [see comments]. Nature Genet 1995, 10:99-103.
-
(1995)
Nature Genet
, vol.10
, pp. 99-103
-
-
Yazawa, I.1
Nukina, N.2
Hashida, H.3
Goto, J.4
Yamada, M.5
Kanazawa, I.6
-
58
-
-
0029082841
-
Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat
-
Schmitt I, Epplen JT, Riess O: Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat. Hum Mol Genet 1995, 4:1619-1624.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1619-1624
-
-
Schmitt, I.1
Epplen, J.T.2
Riess, O.3
-
59
-
-
0028339385
-
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm [published erratum appears in Nat Genet 1994 May, 7(1):113]
-
Telenius H, Kremer B, Goldberg YP, Theilmann J, Andrew SE, Zeisler J, Adam S, Greenberg C, Ives EJ, Clarke LA, Hayden MR: Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm [published erratum appears in Nat Genet 1994 May, 7(1):113]. Nature Genet 1994, 6:409-414.
-
(1994)
Nature Genet
, vol.6
, pp. 409-414
-
-
Telenius, H.1
Kremer, B.2
Goldberg, Y.P.3
Theilmann, J.4
Andrew, S.E.5
Zeisler, J.6
Adam, S.7
Greenberg, C.8
Ives, E.J.9
Clarke, L.A.10
Hayden, M.R.11
-
60
-
-
0028931138
-
Somatic expansion of the (CAG)n repeat in Huntington disease brains
-
De Rooij KE, De Koning Gans PA, Roos RA, Van Ommen GJ, Den Dunnen JT: Somatic expansion of the (CAG)n repeat in Huntington disease brains. Hum Genet 1995, 95:270-274.
-
(1995)
Hum Genet
, vol.95
, pp. 270-274
-
-
De Rooij, K.E.1
De Koning Gans, P.A.2
Roos, R.A.3
Van Ommen, G.J.4
Den Dunnen, J.T.5
-
61
-
-
0029035710
-
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
-
Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi HY: Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1995, 10:344-350
-
(1995)
Nature Genet
, vol.10
, pp. 344-350
-
-
Chong, S.S.1
McCall, A.E.2
Cota, J.3
Subramony, S.H.4
Orr, H.T.5
Hughes, M.R.6
Zoghbi, H.Y.7
-
62
-
-
0028858001
-
Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS
-
Onodera O, Oyake M, Takano H, Ikeuchi T, Igarashi S, Tsuji S: Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. Am J Hum Genet 1995, 57:1050-1060.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1050-1060
-
-
Onodera, O.1
Oyake, M.2
Takano, H.3
Ikeuchi, T.4
Igarashi, S.5
Tsuji, S.6
-
63
-
-
0028916306
-
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)
-
Ueno S, Kondoh K, Kotani Y, Komure O, Kuno S, Kawai J, Hazama F, Sano A: Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum Mol Genet 1995, 4:663-666.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 663-666
-
-
Ueno, S.1
Kondoh, K.2
Kotani, Y.3
Komure, O.4
Kuno, S.5
Kawai, J.6
Hazama, F.7
Sano, A.8
-
64
-
-
0023115076
-
Homozygotes for Huntington's disease
-
Wexler NS, Young AB, Tanzi RE, Travers H, Starosta-Rubinstein S, Penney JB, Snodgrass SR, Shoulson I, Gomez F, Ramos Arroyo MA et al.: Homozygotes for Huntington's disease. Nature 1987, 326:194-197.
-
(1987)
Nature
, vol.326
, pp. 194-197
-
-
Wexler, N.S.1
Young, A.B.2
Tanzi, R.E.3
Travers, H.4
Starosta-Rubinstein, S.5
Penney, J.B.6
Snodgrass, S.R.7
Shoulson, I.8
Gomez, F.9
Ramos Arroyo, M.A.10
-
65
-
-
0029055717
-
Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes
-
Nasir J, Floresco SB, O'Kusky JR, Diewert VM, Richman JM, Zeisler J, Borowski A, Marth JD, Phillips AG, Hayden MR: Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 1995, 81:811-823. Targeted disruption of the Huntington's disease gene causes early embryonic lethality in homozygotes and subtle behavioral and morphological abnormalities in heterozygotes.
-
(1995)
Cell
, vol.81
, pp. 811-823
-
-
Nasir, J.1
Floresco, S.B.2
O'Kusky, J.R.3
Diewert, V.M.4
Richman, J.M.5
Zeisler, J.6
Borowski, A.7
Marth, J.D.8
Phillips, A.G.9
Hayden, M.R.10
-
66
-
-
0029082383
-
Inactivation of the mouse Huntington's disease gene homolog Hdh
-
Duyao MP, Auerbach AB, Ryan A, Persichetti F, Barnes GT, McNeil SM, Ge P, Vonsattel JP, Gusella JF, Joyner AL et al.: Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 1995, 269:407-410. A demonstration that homozygotes for Huntington's disease gene inactivated by homologous recombination die during early embryogenesis.
-
(1995)
Science
, vol.269
, pp. 407-410
-
-
Duyao, M.P.1
Auerbach, A.B.2
Ryan, A.3
Persichetti, F.4
Barnes, G.T.5
McNeil, S.M.6
Ge, P.7
Vonsattel, J.P.8
Gusella, J.F.9
Joyner, A.L.10
-
67
-
-
0029431673
-
Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?
-
Sato K, Kashihara K, Okada S, Ikeuchi T, Tsuji S, Shomori T, Morimoto K, Hayabara T: Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? Neurology 1995, 45:1934-1936.
-
(1995)
Neurology
, vol.45
, pp. 1934-1936
-
-
Sato, K.1
Kashihara, K.2
Okada, S.3
Ikeuchi, T.4
Tsuji, S.5
Shomori, T.6
Morimoto, K.7
Hayabara, T.8
-
68
-
-
0028024318
-
Homozygous inheritance of the Machado-Joseph disease gene
-
Lang AE, Rogaeva EA, Tsuda T, Hutterer J, St George-Hyslop P: Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurot 1994, 36:443-447.
-
(1994)
Ann Neurot
, vol.36
, pp. 443-447
-
-
Lang, A.E.1
Rogaeva, E.A.2
Tsuda, T.3
Hutterer, J.4
St George-Hyslop, P.5
-
69
-
-
0029864225
-
Machado-Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation
-
Lerer I, Merims D, Abeliovich D, Zlotogora J, Gadoth N: Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Hum Genet 1996, 4:3-7.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 3-7
-
-
Lerer, I.1
Merims, D.2
Abeliovich, D.3
Zlotogora, J.4
Gadoth, N.5
-
70
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, Yunis WS, Duvick LA, Zoghbi HY, Orr HT: SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 1995, 82:937-948. The first transgenic animal model with a pathogenic polyglutamine expansion leading to neurodegeneration. Expression of a human SCA1 cDNA with 82 CAG repeats leads to Purkinje cell degeneration in transgenic mice.
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
Clark, H.B.2
Servadio, A.3
Matilla, T.4
Feddersen, R.M.5
Yunis, W.S.6
Duvick, L.A.7
Zoghbi, H.Y.8
Orr, H.T.9
-
71
-
-
0028803757
-
A huntingtin-associated protein enriched in brain with implications for pathology
-
Li XJ, Li SH, Sharp AH, Nucifora FC Jr, Schilling G, Lanahan A, Worley P, Snyder SH, Ross CA: A huntingtin-associated protein enriched in brain with implications for pathology. Nature 1995, 378:398-402. Two hybrid experiments reveal that huntingtin with an expanded polyglutamme tract binds with higher affinity to HAP-1, a newly identified brain-enriched protein. The first step towards understanding the pathophysiology of polyglutamine expansions.
-
(1995)
Nature
, vol.378
, pp. 398-402
-
-
Li, X.J.1
Li, S.H.2
Sharp, A.H.3
Nucifora Jr., F.C.4
Schilling, G.5
Lanahan, A.6
Worley, P.7
Snyder, S.H.8
Ross, C.A.9
-
72
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A et al.: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996, 271:1423-1427. The identification of X25, the gene responsible for Friedreich ataxia, the first unstable mutation with a GAA repeat in a noncoding gene sequence, and with autosomal recessive inheritance. Rare point mutations observed in patients with Friedreich ataxia further confirm implication of the X25 gene.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
-
73
-
-
0028819669
-
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13
-
Montermini L, Rodius F, Pianese L, Molto MD, Cossee M, Campuzano V, Cavaicanti F, Monticelli A, Palau F, Gyapay G et al.: The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13. Am J Hum Genet 1995, 57:1061-1067.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1061-1067
-
-
Montermini, L.1
Rodius, F.2
Pianese, L.3
Molto, M.D.4
Cossee, M.5
Campuzano, V.6
Cavaicanti, F.7
Monticelli, A.8
Palau, F.9
Gyapay, G.10
-
74
-
-
0019790761
-
'Pseudo-dominant' inheritance in Friedreich's ataxia
-
Harding AE, Zilkha KJ: 'Pseudo-dominant' inheritance in Friedreich's ataxia. J Med Genet 1981, 18:285-287.
-
(1981)
J Med Genet
, vol.18
, pp. 285-287
-
-
Harding, A.E.1
Zilkha, K.J.2
-
75
-
-
0028876572
-
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
-
Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M: Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nature Genet 1995, 9:141-145.
-
(1995)
Nature Genet
, vol.9
, pp. 141-145
-
-
Ouahchi, K.1
Arita, M.2
Kayden, H.3
Hentati, F.4
Ben Hamida, M.5
Sokol, R.6
Arai, H.7
Inoue, K.8
Mandel, J.L.9
Koenig, M.10
-
76
-
-
0028941326
-
Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q
-
Palau F, De Michele G, Vilchez JJ, Pandolfo M, Monros E, Cocozza S, Smeyers P, Lopez-Arlandis J, Campanella G, Di Donato S, Filla A: Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Ann Neurol 1995, 37:359-362.
-
(1995)
Ann Neurol
, vol.37
, pp. 359-362
-
-
Palau, F.1
De Michele, G.2
Vilchez, J.J.3
Pandolfo, M.4
Monros, E.5
Cocozza, S.6
Smeyers, P.7
Lopez-Arlandis, J.8
Campanella, G.9
Di Donato, S.10
Filla, A.11
-
77
-
-
0029990713
-
Friedreich's ataxia with retained tendon reflexes: Molecular genetics, clinical neurophysiology and magnetic resonance imaging
-
Klockgether T, Zuhlke C, Schulz JB, Burk K, Fetter M, Dittmann H, Skalej M, Dichgans J: Friedreich's ataxia with retained tendon reflexes: molecular genetics, clinical neurophysiology and magnetic resonance imaging. Neurology 1996, 46:118-121.
-
(1996)
Neurology
, vol.46
, pp. 118-121
-
-
Klockgether, T.1
Zuhlke, C.2
Schulz, J.B.3
Burk, K.4
Fetter, M.5
Dittmann, H.6
Skalej, M.7
Dichgans, J.8
-
78
-
-
0028120296
-
Late onset Friedreich's disease: Clinical features and mapping of mutation to the FRDA locus
-
De Michele G, Filla A, Cavaicanti F, Di Maio L, Pianese L, Castaldo I, Calabrese O, Monticelli A, Varrone S, Campanella G et al.: Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. J Neurol Neurosurg Psychiatry 1994, 57:977-979.
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 977-979
-
-
De Michele, G.1
Filla, A.2
Cavaicanti, F.3
Di Maio, L.4
Pianese, L.5
Castaldo, I.6
Calabrese, O.7
Monticelli, A.8
Varrone, S.9
Campanella, G.10
-
79
-
-
0027330927
-
Mutations in the aplha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
-
Shiang R, Ryan SG, Zhu Y, Hahn AF, O'Connell P, Wasmuth JJ: Mutations in the aplha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nature Genet 1993, 5: 351-357.
-
(1993)
Nature Genet
, vol.5
, pp. 351-357
-
-
Shiang, R.1
Ryan, S.G.2
Zhu, Y.3
Hahn, A.F.4
O'Connell, P.5
Wasmuth, J.J.6
-
80
-
-
0029016226
-
Molecular genetic reevaluation of the Dutch hyperekplexia family
-
Tijssen MAJ, Shiang R, van Deutekom J, Boerman RH, Wasmuth JJ, Sandkuijl LA, Frants RR, Padberg GW: Molecular genetic reevaluation of the Dutch hyperekplexia family. Arch Neurol 1995, 52:578-582.
-
(1995)
Arch Neurol
, vol.52
, pp. 578-582
-
-
Tijssen, M.A.J.1
Shiang, R.2
Van Deutekom, J.3
Boerman, R.H.4
Wasmuth, J.J.5
Sandkuijl, L.A.6
Frants, R.R.7
Padberg, G.W.8
-
81
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
-
Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M: Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nature Genet 1994, 8:136-140.
-
(1994)
Nature Genet
, vol.8
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
Brunt, E.R.4
Smith, E.A.5
Kramer, P.6
Litt, M.7
-
82
-
-
0029033627
-
Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13
-
Teh BT, Silburn P, Lindblad K, Betz R, Boyle R, Schalling M, Larsson C: Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13. Am J Hum Genet 1995, 56:1443-1449.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1443-1449
-
-
Teh, B.T.1
Silburn, P.2
Lindblad, K.3
Betz, R.4
Boyle, R.5
Schalling, M.6
Larsson, C.7
-
83
-
-
0029048004
-
A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p
-
Kramer PL, Yue Q, Gancher ST, Nutt JG, Baloh R, Smith E, Browne D, Bussey K, Lovrien E, Nelson S, Litt M: A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p. Am J Hum Genet 1995, 57:182-185.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 182-185
-
-
Kramer, P.L.1
Yue, Q.2
Gancher, S.T.3
Nutt, J.G.4
Baloh, R.5
Smith, E.6
Browne, D.7
Bussey, K.8
Lovrien, E.9
Nelson, S.10
Litt, M.11
-
84
-
-
0028963974
-
A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p
-
Vahedi K, Joutel A, Van Bogaert P, Ducros A, Maciazeck J, Bach JF, Bousser MG, Tournier-Lasserve E: A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995, 37:289-293.
-
(1995)
Ann Neurol
, vol.37
, pp. 289-293
-
-
Vahedi, K.1
Joutel, A.2
Van Bogaert, P.3
Ducros, A.4
Maciazeck, J.5
Bach, J.F.6
Bousser, M.G.7
Tournier-Lasserve, E.8
-
85
-
-
0030027095
-
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2cM between D1S443 and D1S197
-
Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, Binkofski F, Kugel H, Heindel W, Seitz R, Benecke R et al.: A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2cM between D1S443 and D1S197. Genomics 1996, 31:90-94. The mapping of the gene for paroxysmal choreoathetosis-spasticity to chromosome 1p and the suggestion that potassium channel genes located in the vicinity may be candidates.
-
(1996)
Genomics
, vol.31
, pp. 90-94
-
-
Auburger, G.1
Ratzlaff, T.2
Lunkes, A.3
Nelles, H.W.4
Leube, B.5
Binkofski, F.6
Kugel, H.7
Heindel, W.8
Seitz, R.9
Benecke, R.10
-
86
-
-
0027377709
-
Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q
-
Nygaard TG, Wilhelmsen KC, Risch NJ, Brown DL, Trugman JM, Gilliam TC, Fahn S, Weeks DE: Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nature Genet 1993, 5:386-391.
-
(1993)
Nature Genet
, vol.5
, pp. 386-391
-
-
Nygaard, T.G.1
Wilhelmsen, K.C.2
Risch, N.J.3
Brown, D.L.4
Trugman, J.M.5
Gilliam, T.C.6
Fahn, S.7
Weeks, D.E.8
-
87
-
-
0028151448
-
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
-
Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, Fujita K, Nagatsu T: Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet 1994, 8:236-242.
-
(1994)
Nature Genet
, vol.8
, pp. 236-242
-
-
Ichinose, H.1
Ohye, T.2
Takahashi, E.3
Seki, N.4
Hori, T.5
Segawa, M.6
Nomura, Y.7
Endo, K.8
Tanaka, H.9
Tsuji, S.10
Fujita, K.11
Nagatsu, T.12
-
88
-
-
0028910911
-
The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q
-
Tanaka H, Endo K, Tsuji S, Nygaard TG, Weeks DE, Nomura Y, Segawa M: The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q. Ann Neurol 1995, 37:405-408.
-
(1995)
Ann Neurol
, vol.37
, pp. 405-408
-
-
Tanaka, H.1
Endo, K.2
Tsuji, S.3
Nygaard, T.G.4
Weeks, D.E.5
Nomura, Y.6
Segawa, M.7
-
89
-
-
0028902943
-
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency
-
Ichmose H, Ohye T, Matsuda Y, Hori T, Blau N, Burlina A, Rouse B, Matalon R, Fujita K, Nagatsu T: Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem 1995, 270:10062-10071.
-
(1995)
J Biol Chem
, vol.270
, pp. 10062-10071
-
-
Ichmose, H.1
Ohye, T.2
Matsuda, Y.3
Hori, T.4
Blau, N.5
Burlina, A.6
Rouse, B.7
Matalon, R.8
Fujita, K.9
Nagatsu, T.10
-
90
-
-
0029162075
-
Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia
-
Hirano M, Tamaru Y, Nagai Y, Ito H, Imai T, Ueno S: Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia. Biochem Biophys Res Commun 1995, 213:645-651.
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 645-651
-
-
Hirano, M.1
Tamaru, Y.2
Nagai, Y.3
Ito, H.4
Imai, T.5
Ueno, S.6
-
91
-
-
0030059804
-
Dopa-responsive dystonia in British patients: New mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity
-
Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE: Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996, 5:403-406.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 403-406
-
-
Bandmann, O.1
Nygaard, T.G.2
Surtees, R.3
Marsden, C.D.4
Wood, N.W.5
Harding, A.E.6
-
92
-
-
0028816765
-
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
-
Lüdecke B, Dworniczak B, Bartholomé K: A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet 1995, 93:123-125.
-
(1995)
Hum Genet
, vol.93
, pp. 123-125
-
-
Lüdecke, B.1
Dworniczak, B.2
Bartholomé, K.3
-
93
-
-
0029049876
-
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
-
Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K: Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995, 4:1209-1212.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1209-1212
-
-
Knappskog, P.M.1
Flatmark, T.2
Mallet, J.3
Ludecke, B.4
Bartholome, K.5
-
94
-
-
0028221755
-
Dopa-responsive dystonia: Pathological and biochemical observations in a case
-
Rajput AH, Gibb WR, Zhong XH, Shannak KS, Kish S, Chang LG, Hornykiewicz O: Dopa-responsive dystonia: pathological and biochemical observations in a case [see comments]. Ann Neurol 1994, 35:396-402.
-
(1994)
Ann Neurol
, vol.35
, pp. 396-402
-
-
Rajput, A.H.1
Gibb, W.R.2
Zhong, X.H.3
Shannak, K.S.4
Kish, S.5
Chang, L.G.6
Hornykiewicz, O.7
-
95
-
-
0024657745
-
Human gene for torsion dystonia located on chromosome 9q32-q34
-
Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, Schuback DE, Falk CT, Risch N, de Lerm D et al:. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 1989, 2:1427-1434.
-
(1989)
Neuron
, vol.2
, pp. 1427-1434
-
-
Ozelius, L.1
Kramer, P.L.2
Moskowitz, C.B.3
Kwiatkowski, D.J.4
Brin, M.F.5
Bressman, S.B.6
Schuback, D.E.7
Falk, C.T.8
Risch, N.9
De Lerm, D.10
-
96
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
-
Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S: Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet 1995, 9:152-159. Haplotype analysis in a large series of Ashkenazi Jews with ITD which supports the hypothesis of the existence of a common founder who could have lived about 350 years ago in northern Europe.
-
(1995)
Nature Genet
, vol.9
, pp. 152-159
-
-
Risch, N.1
De Leon, D.2
Ozelius, L.3
Kramer, P.4
Almasy, L.5
Singer, B.6
Fahn, S.7
Breakefield, X.8
Bressman, S.9
-
97
-
-
0027265262
-
Linkage analysis in British and French families with idiopathic torsion dystonia
-
Warner TT, Fletcher NA, Davis MB, Ahmad F, Conway D, Feve A, Rondot P, Marsden CD, Harding AE: Linkage analysis in British and French families with idiopathic torsion dystonia. Brain 1993, 116:739-744.
-
(1993)
Brain
, vol.116
, pp. 739-744
-
-
Warner, T.T.1
Fletcher, N.A.2
Davis, M.B.3
Ahmad, F.4
Conway, D.5
Feve, A.6
Rondot, P.7
Marsden, C.D.8
Harding, A.E.9
-
98
-
-
0027401233
-
Evidence for locus heterogeneity in autosomal dominant torsion dystonia
-
Ahmad F, Davis MB, Waddy HM, Oley CA, Marsden CD, Harding AE: Evidence for locus heterogeneity in autosomal dominant torsion dystonia. Genomics 1993, 15:9-12.
-
(1993)
Genomics
, vol.15
, pp. 9-12
-
-
Ahmad, F.1
Davis, M.B.2
Waddy, H.M.3
Oley, C.A.4
Marsden, C.D.5
Harding, A.E.6
-
99
-
-
0028097164
-
Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia
-
Bressman SB, Hunt AL, Heiman GA, Brin MF, Burke RE, Fahn S, Trugman JM, de Leon D, Kramer PL, Wilhelmsen KC, Nygaard TG: Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia. Mov Disord 1994, 9:626-632.
-
(1994)
Mov Disord
, vol.9
, pp. 626-632
-
-
Bressman, S.B.1
Hunt, A.L.2
Heiman, G.A.3
Brin, M.F.4
Burke, R.E.5
Fahn, S.6
Trugman, J.M.7
De Leon, D.8
Kramer, P.L.9
Wilhelmsen, K.C.10
Nygaard, T.G.11
-
100
-
-
0029133628
-
Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family
-
Holmgren G, Ozelius L, Forsgren L, Almay BG, Holmberg M, Kramer P, Fahn S, Breakefield XO: Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family. J Neurol Neurosurg Psychiatry 1995, 59:178-181.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.59
, pp. 178-181
-
-
Holmgren, G.1
Ozelius, L.2
Forsgren, L.3
Almay, B.G.4
Holmberg, M.5
Kramer, P.6
Fahn, S.7
Breakefield, X.O.8
-
101
-
-
0029135425
-
Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1
-
Haberhausen G, Schmitt I, Kohler A, Peters U, Rider S, Chelly J, Terwilliger JD, Monaco AP, Muller U: Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1. Am J Hum Genet 1995, 57:644-650.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 644-650
-
-
Haberhausen, G.1
Schmitt, I.2
Kohler, A.3
Peters, U.4
Rider, S.5
Chelly, J.6
Terwilliger, J.D.7
Monaco, A.P.8
Muller, U.9
-
102
-
-
0028331444
-
A clinical genetic study of Parkinson's disease: Evidence for dominant transmission
-
Lazzarini AM, Myers RH, Zimmerman TR Jr, Mark MH, Golbe LI, Sage JI, Johnson WG, Duvoisin RC: A clinical genetic study of Parkinson's disease: evidence for dominant transmission. Neurology 1994, 44:499-506.
-
(1994)
Neurology
, vol.44
, pp. 499-506
-
-
Lazzarini, A.M.1
Myers, R.H.2
Zimmerman Jr., T.R.3
Mark, M.H.4
Golbe, L.I.5
Sage, J.I.6
Johnson, W.G.7
Duvoisin, R.C.8
-
103
-
-
0028869758
-
Genetic anticipation in Parkinson's disease
-
Payami H, Bernard S, Larsen K, Kaye J, Nutt J: Genetic anticipation in Parkinson's disease. Neurology 1995, 45:135-138.
-
(1995)
Neurology
, vol.45
, pp. 135-138
-
-
Payami, H.1
Bernard, S.2
Larsen, K.3
Kaye, J.4
Nutt, J.5
-
104
-
-
0029049738
-
Western Nebraska family (family D) with autosomal dominant parkinsonism
-
Wszolek ZK, Pfeiffer B, Fulgham JR, Parisi JE, Thompson BM, Uitti RJ, Calne DB, Pfeiffer RF: Western Nebraska family (family D) with autosomal dominant parkinsonism. Neurology 1995, 45:502-505.
-
(1995)
Neurology
, vol.45
, pp. 502-505
-
-
Wszolek, Z.K.1
Pfeiffer, B.2
Fulgham, J.R.3
Parisi, J.E.4
Thompson, B.M.5
Uitti, R.J.6
Calne, D.B.7
Pfeiffer, R.F.8
-
105
-
-
0029090839
-
A Greek-American kindred with autosomal dominant levodopa-responsive parkinsonism and anticipation
-
Markopoulou K, Wszolek ZK, Pfeiffer RF: A Greek-American kindred with autosomal dominant levodopa-responsive parkinsonism and anticipation. Ann Neurol 1995, 38:373-378.
-
(1995)
Ann Neurol
, vol.38
, pp. 373-378
-
-
Markopoulou, K.1
Wszolek, Z.K.2
Pfeiffer, R.F.3
-
106
-
-
0028787434
-
No evidence for association of familial Parkinson's disease with CAG repeat expansion
-
Carero-Valenzuela R, Lindblad K, Payami H, Johnson W, Schalling M, Stenroos ES, Shattuc S, Nutt J, Brice A, Litt M: No evidence for association of familial Parkinson's disease with CAG repeat expansion. Neurology 1995, 45:1760-1763.
-
(1995)
Neurology
, vol.45
, pp. 1760-1763
-
-
Carero-Valenzuela, R.1
Lindblad, K.2
Payami, H.3
Johnson, W.4
Schalling, M.5
Stenroos, E.S.6
Shattuc, S.7
Nutt, J.8
Brice, A.9
Litt, M.10
-
107
-
-
0028339524
-
Familial Parkinson's disease and polymorphism at the CYP2D6 locus
-
Mazzetti P, Le Guern E, Bonnet AM, Vidailhet M, Brice A, Agid Y: Familial Parkinson's disease and polymorphism at the CYP2D6 locus [Letter]. J Neurol Neurosurg Psychiatry 1994, 57:871-872.
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 871-872
-
-
Mazzetti, P.1
Le Guern, E.2
Bonnet, A.M.3
Vidailhet, M.4
Brice, A.5
Agid, Y.6
-
108
-
-
0028356805
-
Tyrosine hydroxylase polymorphism in familial and sporadic Parkinson's disease
-
Plante-Bordeneuve V, Davis MB, Maraganore DM, Marsden CD, Harding AE: Tyrosine hydroxylase polymorphism in familial and sporadic Parkinson's disease. Mov Disord 1994, 9:337-339.
-
(1994)
Mov Disord
, vol.9
, pp. 337-339
-
-
Plante-Bordeneuve, V.1
Davis, M.B.2
Maraganore, D.M.3
Marsden, C.D.4
Harding, A.E.5
-
109
-
-
0028124654
-
Genetic linkage studies in autosomal dominant parkinsonism: Evaluation of seven candidate genes
-
Gasser T, Wszolek ZK, Trofatter J, Ozelius L, Uitti RJ, Lee CS, Gusella J, Pfeiffer RF, Calne DB, Breakefield XO: Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol 1994, 36:387-396.
-
(1994)
Ann Neurol
, vol.36
, pp. 387-396
-
-
Gasser, T.1
Wszolek, Z.K.2
Trofatter, J.3
Ozelius, L.4
Uitti, R.J.5
Lee, C.S.6
Gusella, J.7
Pfeiffer, R.F.8
Calne, D.B.9
Breakefield, X.O.10
-
110
-
-
0029010415
-
Sequence of the superoxide dismutase 1 (SOD 1) gene in familial Parkinson's disease
-
Bandmann O, Davis MB, Marsden CD, Harding AE: Sequence of the superoxide dismutase 1 (SOD 1) gene in familial Parkinson's disease. J Neurol Neurosurg Psychiatry 1995, 59:90-91.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.59
, pp. 90-91
-
-
Bandmann, O.1
Davis, M.B.2
Marsden, C.D.3
Harding, A.E.4
-
111
-
-
0028073692
-
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22
-
Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG: Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 1994, 55:1159-1165.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1159-1165
-
-
Wilhelmsen, K.C.1
Lynch, T.2
Pavlou, E.3
Higgins, M.4
Nygaard, T.G.5
-
112
-
-
9044220964
-
Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21
-
Wijker M, Wszolek ZK, Wolters ECH, Rooimans MA, Pals G, Pfeiffer RF, Lynch T, Rodnitzky RL, Wilhelmsen KC, Arwert F: Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet 1996, 5:151-154. Mapping of rapidly progressive autosomal dominant parkinsonism with pallido-pontonigral degeneration to chromosome 17q21 and suggestion of allelism with the dishinhibition-dementia-parkinsonism-amyotrophy complex.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 151-154
-
-
Wijker, M.1
Wszolek, Z.K.2
Wolters, E.C.H.3
Rooimans, M.A.4
Pals, G.5
Pfeiffer, R.F.6
Lynch, T.7
Rodnitzky, R.L.8
Wilhelmsen, K.C.9
Arwert, F.10
-
113
-
-
0028031125
-
Guidelines for the molecular genetics predictive test in Huntington's disease
-
International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea: Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 1994, 44:1533-1536.
-
(1994)
Neurology
, vol.44
, pp. 1533-1536
-
-
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