共 7 条
MELAS associated with mutations in the POLG1 gene
被引:72
作者:

Deschauer, M.
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机构: Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Tennant, S.
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机构: Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Rokicka, A.
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h-index: 0
机构: Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

He, L.
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h-index: 0
机构: Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Kraya, T.
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h-index: 0
机构: Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Turnbull, D. M.
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机构: Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Zierz, S.
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机构: Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Taylor, R. W.
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h-index: 0
机构:
Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
机构:
[1] Univ Newcastle Upon Tyne, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
[2] No Reg Genet Serv, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England
[3] Univ Halle Wittenberg, Dept Neurol, Halle, Saale, Germany
来源:
基金:
英国惠康基金;
关键词:
D O I:
10.1212/01.wnl.0000261929.92478.3e
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
[No abstract available]
引用
收藏
页码:1741 / 1742
页数:2
相关论文
共 7 条
[1]
A polymorphic polymerase
[J].
DiMauro, Salvatore
;
Davidzon, Guido
;
Hirano, Michio
.
BRAIN,
2006, 129
:1637-1639

DiMauro, Salvatore
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10027 USA Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10027 USA

Davidzon, Guido
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10027 USA Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10027 USA

Hirano, Michio
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10027 USA Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10027 USA
[2]
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
[J].
He, LP
;
Chinnery, PF
;
Durham, SE
;
Blakely, EL
;
Wardell, TM
;
Borthwick, GM
;
Taylor, RW
;
Turnbull, DM
.
NUCLEIC ACIDS RESEARCH,
2002, 30 (14)
:e68

He, LP
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Chinnery, PF
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Durham, SE
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Blakely, EL
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Wardell, TM
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Borthwick, GM
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Taylor, RW
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

Turnbull, DM
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
[3]
MELAS - AN ORIGINAL CASE AND CLINICAL-CRITERIA FOR DIAGNOSIS
[J].
HIRANO, M
;
RICCI, E
;
KOENIGSBERGER, MR
;
DEFENDINI, R
;
PAVLAKIS, SG
;
DEVIVO, DC
;
DIMAURO, S
;
ROWLAND, LP
.
NEUROMUSCULAR DISORDERS,
1992, 2 (02)
:125-135

HIRANO, M
论文数: 0 引用数: 0
h-index: 0
机构: UNIV MED & DENT NEW JERSEY, DEPT NEUROSCI, JERSEY CITY, NJ USA

RICCI, E
论文数: 0 引用数: 0
h-index: 0
机构: UNIV MED & DENT NEW JERSEY, DEPT NEUROSCI, JERSEY CITY, NJ USA

KOENIGSBERGER, MR
论文数: 0 引用数: 0
h-index: 0
机构: UNIV MED & DENT NEW JERSEY, DEPT NEUROSCI, JERSEY CITY, NJ USA

DEFENDINI, R
论文数: 0 引用数: 0
h-index: 0
机构: UNIV MED & DENT NEW JERSEY, DEPT NEUROSCI, JERSEY CITY, NJ USA

PAVLAKIS, SG
论文数: 0 引用数: 0
h-index: 0
机构: UNIV MED & DENT NEW JERSEY, DEPT NEUROSCI, JERSEY CITY, NJ USA

DEVIVO, DC
论文数: 0 引用数: 0
h-index: 0
机构: UNIV MED & DENT NEW JERSEY, DEPT NEUROSCI, JERSEY CITY, NJ USA

DIMAURO, S
论文数: 0 引用数: 0
h-index: 0
机构: UNIV MED & DENT NEW JERSEY, DEPT NEUROSCI, JERSEY CITY, NJ USA

ROWLAND, LP
论文数: 0 引用数: 0
h-index: 0
机构: UNIV MED & DENT NEW JERSEY, DEPT NEUROSCI, JERSEY CITY, NJ USA
[4]
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation
[J].
Kaufmann, Petra
;
Pascual, Juan M.
;
Anziska, Yaacov
;
Gooch, Clifton L.
;
Engelstad, Kristin
;
Jhung, Sarah
;
DiMauro, Salvatore
;
De Vivo, Darryl C.
.
ARCHIVES OF NEUROLOGY,
2006, 63 (05)
:746-748

Kaufmann, Petra
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Neurol, New York, NY 10032 USA

Pascual, Juan M.
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Neurol, New York, NY 10032 USA

Anziska, Yaacov
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Neurol, New York, NY 10032 USA

Gooch, Clifton L.
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Neurol, New York, NY 10032 USA

Engelstad, Kristin
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Neurol, New York, NY 10032 USA

Jhung, Sarah
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Neurol, New York, NY 10032 USA

DiMauro, Salvatore
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Neurol, New York, NY 10032 USA

De Vivo, Darryl C.
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Neurol, New York, NY 10032 USA
[5]
The spectrum of clinical disease caused by the A467T and W748SPOLG mutations:: a study of 26 cases
[J].
Tzoulis, Charalampos
;
Engelsen, Bernt A.
;
Telstad, Wenche
;
Aasly, Jan
;
Zeviani, Massimo
;
Winterthun, Synnove
;
Ferrari, Gianfrancesco
;
Aarseth, Jan H.
;
Bindoff, Laurence A.
.
BRAIN,
2006, 129
:1685-1692

Tzoulis, Charalampos
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Hosp, Inst Clin Med, Dept Neurol, N-5021 Bergen, Norway

Engelsen, Bernt A.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Hosp, Inst Clin Med, Dept Neurol, N-5021 Bergen, Norway

Telstad, Wenche
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Hosp, Inst Clin Med, Dept Neurol, N-5021 Bergen, Norway

Aasly, Jan
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Hosp, Inst Clin Med, Dept Neurol, N-5021 Bergen, Norway

Zeviani, Massimo
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Hosp, Inst Clin Med, Dept Neurol, N-5021 Bergen, Norway

Winterthun, Synnove
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Hosp, Inst Clin Med, Dept Neurol, N-5021 Bergen, Norway

Ferrari, Gianfrancesco
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Hosp, Inst Clin Med, Dept Neurol, N-5021 Bergen, Norway

Aarseth, Jan H.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Hosp, Inst Clin Med, Dept Neurol, N-5021 Bergen, Norway

Bindoff, Laurence A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bergen, Haukeland Hosp, Inst Clin Med, Dept Neurol, N-5021 Bergen, Norway Univ Bergen, Haukeland Hosp, Inst Clin Med, Dept Neurol, N-5021 Bergen, Norway
[6]
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
[J].
Van Goethem, G
;
Luoma, P
;
Rantamäki, M
;
Al Memar, A
;
Kaakkola, S
;
Hackman, P
;
Krahe, R
;
Löfgren, A
;
Martin, JJ
;
De Jonghe, P
;
Suomalainen, A
;
Udd, B
;
Van Broeckhoven, C
.
NEUROLOGY,
2004, 63 (07)
:1251-1257

Van Goethem, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium

Luoma, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium

Rantamäki, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium

Al Memar, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium

Kaakkola, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium

论文数: 引用数:
h-index:
机构:

Krahe, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium

Löfgren, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium

Martin, JJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium

De Jonghe, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium

Suomalainen, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium

Udd, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium

Van Broeckhoven, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Instelling Antwerp, Dept Mol Genet, B-2610 Antwerp, Belgium
[7]
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations
[J].
Winterthun, S
;
Ferrari, G
;
He, L
;
Taylor, RW
;
Zeviani, M
;
Turnbull, DM
;
Engelsen, BA
;
Moen, G
;
Bindoff, LA
.
NEUROLOGY,
2005, 64 (07)
:1204-1208

Winterthun, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Univ Hosp, Dept Neurol, Inst Clin Med & Mol Med, N-5021 Bergen, Norway

Ferrari, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Univ Hosp, Dept Neurol, Inst Clin Med & Mol Med, N-5021 Bergen, Norway

He, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Univ Hosp, Dept Neurol, Inst Clin Med & Mol Med, N-5021 Bergen, Norway

Taylor, RW
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Univ Hosp, Dept Neurol, Inst Clin Med & Mol Med, N-5021 Bergen, Norway

Zeviani, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Univ Hosp, Dept Neurol, Inst Clin Med & Mol Med, N-5021 Bergen, Norway

Turnbull, DM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Univ Hosp, Dept Neurol, Inst Clin Med & Mol Med, N-5021 Bergen, Norway

Engelsen, BA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Univ Hosp, Dept Neurol, Inst Clin Med & Mol Med, N-5021 Bergen, Norway

Moen, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bergen, Haukeland Univ Hosp, Dept Neurol, Inst Clin Med & Mol Med, N-5021 Bergen, Norway

Bindoff, LA
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bergen, Haukeland Univ Hosp, Dept Neurol, Inst Clin Med & Mol Med, N-5021 Bergen, Norway Univ Bergen, Haukeland Univ Hosp, Dept Neurol, Inst Clin Med & Mol Med, N-5021 Bergen, Norway