共 5 条
Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease
被引:16
作者:

Combes, Patricia
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机构:
Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France
Clermont Ferrand Univ Hosp, Clermont Ferrand, France Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France

Kammoun, Nadege
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h-index: 0
机构:
Fac Med, Neuropediat Res Unit, Sfax, Tunisia
Fac Med, Human Mol Genet Lab LGMH, Sfax, Tunisia Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France

Monnier, Aurelie
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h-index: 0
机构:
Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France
Clermont Ferrand Univ Hosp, Clermont Ferrand, France Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France

Gonthier-Gueret, Celine
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h-index: 0
机构:
Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France

Giraud, Genevieve
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h-index: 0
机构:
Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France

Bertini, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Hosp Care Sci IRCCS, Rome, Italy Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France

Chahnez, Triki
论文数: 0 引用数: 0
h-index: 0
机构:
Fac Med, Neuropediat Res Unit, Sfax, Tunisia Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France

Fakhfakh, Faiza
论文数: 0 引用数: 0
h-index: 0
机构:
Fac Med, Human Mol Genet Lab LGMH, Sfax, Tunisia Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France

Boespflug-Tanguy, Odile
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h-index: 0
机构:
Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France
Bambino Gesu Pediat Hosp, Rome, Italy
Hop Robert Debre, AP HP, Neuropediat Dept, F-75019 Paris, France
Paris Diderot Univ, Fac Med, Paris, France Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France

Vaurs-Barriere, Catherine
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h-index: 0
机构:
Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France
Auvergne Univ, Fac Med, Clermont Ferrand, France Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France
机构:
[1] Clermont Univ, Med Fac Clermont Ferrand, CNRS 6247, INSERM,U931, Clermont Ferrand, France
[2] Clermont Ferrand Univ Hosp, Clermont Ferrand, France
[3] Fac Med, Neuropediat Res Unit, Sfax, Tunisia
[4] Fac Med, Human Mol Genet Lab LGMH, Sfax, Tunisia
[5] Inst Hosp Care Sci IRCCS, Rome, Italy
[6] Bambino Gesu Pediat Hosp, Rome, Italy
[7] Hop Robert Debre, AP HP, Neuropediat Dept, F-75019 Paris, France
[8] Paris Diderot Univ, Fac Med, Paris, France
[9] Auvergne Univ, Fac Med, Clermont Ferrand, France
关键词:
D O I:
10.1002/ana.22295
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
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页码:146 / 148
页数:3
相关论文
共 5 条
[1]
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
[J].
Henneke, M.
;
Combes, P.
;
Diekmann, S.
;
Bertini, E.
;
Brockmann, K.
;
Burlina, A. P.
;
Kaiser, J.
;
Ohlenbusch, A.
;
Plecko, B.
;
Rodriguez, D.
;
Boespflug-Tanguy, O.
;
Gartner, J.
.
NEUROLOGY,
2008, 70 (10)
:748-754

Henneke, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany

Combes, P.
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Univ Auvergne, UMR 384, Fac Med, Clermont Ferrand, France
Univ Hosp, Dept Human Genet, CHU Clermt Ferrand, Clermont Ferrand, France Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany

Diekmann, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany

Bertini, E.
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Osped Pedoat Bambino Gesu, Inst Sci, Dept Mol Med, Rome, Italy Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany

Brockmann, K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany

Burlina, A. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp, Dept Neurosci, Neurol Clin, Padua, Italy Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany

Kaiser, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany

Ohlenbusch, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany

论文数: 引用数:
h-index:
机构:

Rodriguez, D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris, INSERM, UMR 546, F-75252 Paris, France
Hop A Trousseau, Dept Pediat Neurol, Paris, France Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany

Boespflug-Tanguy, O.
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Univ Auvergne, UMR 384, Fac Med, Clermont Ferrand, France
Univ Hosp, Dept Human Genet, CHU Clermt Ferrand, Clermont Ferrand, France Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany

Gartner, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany Univ Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany
[2]
Disrupted SOX10 Regulation of GJC2 Transcription Causes Pelizaeus-Merzbacher-Like Disease
[J].
Osaka, Hitoshi
;
Hamanoue, Haruka
;
Yamamoto, Ryoko
;
Nezu, Atsuo
;
Sasaki, Megumi
;
Saitsu, Hirotomo
;
Kurosawa, Kenji
;
Shimbo, Hiroko
;
Matsumoto, Naomichi
;
Inoue, Ken
.
ANNALS OF NEUROLOGY,
2010, 68 (02)
:250-254

Osaka, Hitoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 232855, Japan
Kanagawa Canc Ctr Res Inst, Mol Pathol & Genet Div, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 232855, Japan

Hamanoue, Haruka
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 232855, Japan

Yamamoto, Ryoko
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Kodaira, Tokyo 187, Japan Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 232855, Japan

Nezu, Atsuo
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama Ryoiku Iryo Ctr, Div Pediat Neurol, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 232855, Japan

Sasaki, Megumi
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Kodaira, Tokyo 187, Japan Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 232855, Japan

论文数: 引用数:
h-index:
机构:

Kurosawa, Kenji
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Div Genet, Clin Res Inst, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 232855, Japan

Shimbo, Hiroko
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 232855, Japan Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 232855, Japan

Matsumoto, Naomichi
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 232855, Japan

Inoue, Ken
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Kodaira, Tokyo 187, Japan Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 232855, Japan
[3]
Analysis of Human Alternative First Exons and Copy Number Variation of the GJA12 Gene in Patients With Pelizaeus-Merzbacher-Like Disease
[J].
Rufl, Nico
;
Uhlenberg, Birgit
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS,
2009, 150B (02)
:226-232

Rufl, Nico
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Sch, Charite, Dept Neuropediat, Childrens Clin, D-13353 Berlin, Germany Univ Med Sch, Charite, Dept Neuropediat, Childrens Clin, D-13353 Berlin, Germany

Uhlenberg, Birgit
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Sch, Charite, Dept Neuropediat, Childrens Clin, D-13353 Berlin, Germany Univ Med Sch, Charite, Dept Neuropediat, Childrens Clin, D-13353 Berlin, Germany
[4]
Expression of Connexin32 in oligodendrocytes is regulated by the Sox10 transcription factor
[J].
Schlierf, Beate
;
Werner, Torsten
;
Glaser, Gab
;
Wegner, Michael
.
JOURNAL OF MOLECULAR BIOLOGY,
2006, 361 (01)
:11-21

Schlierf, Beate
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany

Werner, Torsten
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany

Glaser, Gab
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany

Wegner, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany
[5]
SoxE function in vertebrate nervous system development
[J].
Stolt, C. Claus
;
Wegner, Michael
.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY,
2010, 42 (03)
:437-440

Stolt, C. Claus
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Biochem, Emil Fischer Zentrum, D-91054 Erlangen, Germany Univ Erlangen Nurnberg, Inst Biochem, Emil Fischer Zentrum, D-91054 Erlangen, Germany

Wegner, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Biochem, Emil Fischer Zentrum, D-91054 Erlangen, Germany Univ Erlangen Nurnberg, Inst Biochem, Emil Fischer Zentrum, D-91054 Erlangen, Germany