共 8 条
Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7
被引:9
作者:

Bauer, P
论文数: 0 引用数: 0
h-index: 0
机构: RIKEN, Brain Sci Inst, Lab Struct Neuropathol, Wako, Saitama 3510198, Japan

Kraus, J
论文数: 0 引用数: 0
h-index: 0
机构: RIKEN, Brain Sci Inst, Lab Struct Neuropathol, Wako, Saitama 3510198, Japan

Matoska, V
论文数: 0 引用数: 0
h-index: 0
机构: RIKEN, Brain Sci Inst, Lab Struct Neuropathol, Wako, Saitama 3510198, Japan

Brouckova, M
论文数: 0 引用数: 0
h-index: 0
机构: RIKEN, Brain Sci Inst, Lab Struct Neuropathol, Wako, Saitama 3510198, Japan

Zumrova, A
论文数: 0 引用数: 0
h-index: 0
机构: RIKEN, Brain Sci Inst, Lab Struct Neuropathol, Wako, Saitama 3510198, Japan

Goetz, P
论文数: 0 引用数: 0
h-index: 0
机构: RIKEN, Brain Sci Inst, Lab Struct Neuropathol, Wako, Saitama 3510198, Japan
机构:
[1] RIKEN, Brain Sci Inst, Lab Struct Neuropathol, Wako, Saitama 3510198, Japan
[2] Charles Univ Prague, Dept Child Neurol, Inst Biol & Med Genet, Neurogenet Ctr, Prague 15006, Czech Republic
[3] Charles Univ Prague, Fac Med 2, Dept Neurol, Prague 15006, Czech Republic
[4] Fac Hosp Motol, Prague 15006, Czech Republic
关键词:
D O I:
10.1007/s00415-004-0482-4
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
引用
收藏
页码:1023 / 1024
页数:2
相关论文
共 8 条
[1]
THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PIGMENTARY MACULAR DYSTROPHY MAPS TO CHROMOSOME 3P12-P21.1
[J].
BENOMAR, A
;
KROLS, L
;
STEVANIN, G
;
CANCEL, G
;
LEGUERN, E
;
DAVID, G
;
OUHABI, H
;
MARTIN, JJ
;
DURR, A
;
ZAIM, A
;
RAVISE, N
;
BUSQUE, C
;
PENET, C
;
VANREGEMORTER, N
;
WEISSENBACH, J
;
YAHYAOUI, M
;
CHKILI, T
;
AGID, Y
;
Van Broeckhoven, C
;
BRICE, A
.
NATURE GENETICS,
1995, 10 (01)
:84-88

BENOMAR, A
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

KROLS, L
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

STEVANIN, G
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

CANCEL, G
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

LEGUERN, E
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

DAVID, G
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

OUHABI, H
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

MARTIN, JJ
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

DURR, A
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

ZAIM, A
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

RAVISE, N
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

BUSQUE, C
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

PENET, C
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

VANREGEMORTER, N
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

WEISSENBACH, J
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

YAHYAOUI, M
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

CHKILI, T
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

AGID, Y
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

Van Broeckhoven, C
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE

BRICE, A
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM, U289, PARIS, FRANCE
[2]
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
[J].
Benton, CS
;
de Silva, R
;
Rutledge, SL
;
Bohlega, S
;
Ashizawa, T
;
Zoghbi, HY
.
NEUROLOGY,
1998, 51 (04)
:1081-1086

Benton, CS
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

de Silva, R
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Rutledge, SL
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Bohlega, S
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Ashizawa, T
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Zoghbi, HY
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[3]
Cis-acting modifiers of expanded CAG CTG triplet repeat expandability:: associations with flanking GC content and proximity to CpG islands
[J].
Brock, GJR
;
Anderson, NH
;
Monckton, DG
.
HUMAN MOLECULAR GENETICS,
1999, 8 (06)
:1061-1067

Brock, GJR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Glasgow, Anderson Coll, Inst Biomed & Life Sci, Div Mol Genet, Glasgow G11 6NU, Lanark, Scotland

Anderson, NH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Glasgow, Anderson Coll, Inst Biomed & Life Sci, Div Mol Genet, Glasgow G11 6NU, Lanark, Scotland

Monckton, DG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Glasgow, Anderson Coll, Inst Biomed & Life Sci, Div Mol Genet, Glasgow G11 6NU, Lanark, Scotland
[4]
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
[J].
David, G
;
Dürr, A
;
Stevanin, G
;
Cancel, G
;
Abbas, N
;
Benomar, A
;
Belal, S
;
Lebre, AS
;
Abada-Bendib, M
;
Grid, D
;
Holmberg, M
;
Yahyaoui, M
;
Hentati, F
;
Chkili, T
;
Agid, Y
;
Brice, A
.
HUMAN MOLECULAR GENETICS,
1998, 7 (02)
:165-170

David, G
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Dürr, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Stevanin, G
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Cancel, G
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Abbas, N
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Benomar, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Belal, S
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Lebre, AS
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Abada-Bendib, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Grid, D
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Holmberg, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Yahyaoui, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Hentati, F
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Chkili, T
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Agid, Y
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

Brice, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France
[5]
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
[J].
David, G
;
Abbas, N
;
Stevanin, G
;
Durr, A
;
Yvert, G
;
Cancel, G
;
Weber, C
;
Imbert, G
;
Saudou, F
;
Antoniou, E
;
Drabkin, H
;
Gemmill, R
;
Giunti, P
;
Benomar, A
;
Wood, N
;
Ruberg, M
;
Agid, Y
;
Mandel, JL
;
Brice, A
.
NATURE GENETICS,
1997, 17 (01)
:65-70

David, G
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Abbas, N
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Stevanin, G
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Durr, A
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Yvert, G
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Cancel, G
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Weber, C
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Imbert, G
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Saudou, F
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Antoniou, E
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Drabkin, H
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Gemmill, R
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Giunti, P
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Benomar, A
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Wood, N
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Ruberg, M
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Agid, Y
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Mandel, JL
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

Brice, A
论文数: 0 引用数: 0
h-index: 0
机构: HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE
[6]
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission
[J].
Gouw, LG
;
Castañeda, MA
;
McKenna, CK
;
Digre, KB
;
Pulst, SM
;
Perlman, S
;
Lee, MS
;
Gomez, C
;
Fischbeck, K
;
Gagnon, D
;
Storey, E
;
Bird, T
;
Jeri, FR
;
Ptácek, LJ
.
HUMAN MOLECULAR GENETICS,
1998, 7 (03)
:525-532

Gouw, LG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Castañeda, MA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

McKenna, CK
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Digre, KB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Pulst, SM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Perlman, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Lee, MS
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Gomez, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Fischbeck, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Gagnon, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Storey, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Bird, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Jeri, FR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA

Ptácek, LJ
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA Univ Utah, Howard Hughes Med Inst, Dept Human Genet, Salt Lake City, UT 84112 USA
[7]
Clinical and molecular advances in autosomal dominant cerebellar ataxias:: from genotype to phenotype and physiopathology
[J].
Stevanin, G
;
Dürr, A
;
Brice, A
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2000, 8 (01)
:4-18

Stevanin, G
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U289, F-75634 Paris, France

Dürr, A
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U289, F-75634 Paris, France

Brice, A
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Pitie Salpetriere, INSERM, U289, F-75634 Paris, France
[8]
De novo expansion of intermediate alleles in spinocerebellar ataxia 7
[J].
Stevanin, G
;
Giunti, P
;
David, G
;
Belal, S
;
Dürr, A
;
Ruberg, M
;
Wood, N
;
Brice, A
.
HUMAN MOLECULAR GENETICS,
1998, 7 (11)
:1809-1813

Stevanin, G
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM, U289, F-75013 Paris, France

Giunti, P
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM, U289, F-75013 Paris, France

David, G
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM, U289, F-75013 Paris, France

Belal, S
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM, U289, F-75013 Paris, France

Dürr, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM, U289, F-75013 Paris, France

Ruberg, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM, U289, F-75013 Paris, France

Wood, N
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM, U289, F-75013 Paris, France

Brice, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop La Pitie Salpetriere, INSERM, U289, F-75013 Paris, France