共 7 条
A 66-YEAR-OLD PATIENT WITH VANISHING WHITE MATTER DISEASE DUE TO THE p.Ala87Val EIF2B3 MUTATION
被引:17
作者:

Ghezzi, Laura
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机构:
Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy

Scarpini, Elio
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机构:
Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy

Rango, Mario
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机构:
Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy

Arighi, Andrea
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h-index: 0
机构:
Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy

Bassi, Maria Teresa
论文数: 0 引用数: 0
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机构:
E Medea Sci Inst, Mol Biol Lab, Bosisio Parini, LC, Italy Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy

Tenderini, Erika
论文数: 0 引用数: 0
h-index: 0
机构:
E Medea Sci Inst, Mol Biol Lab, Bosisio Parini, LC, Italy Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy

De Riz, Milena
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h-index: 0
机构:
Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy

Jacini, Francesca
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h-index: 0
机构:
Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy

Fumagalli, Giorgio G.
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h-index: 0
机构:
Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy

Pietroboni, Anna M.
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h-index: 0
机构:
Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy

Galimberti, Daniela
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机构:
Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy

论文数: 引用数:
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机构:
[1] Univ Milan, Dept Neurol Sci, Fdn Ca Granda, IRCCS Osped Policlin, Milan, Italy
[2] E Medea Sci Inst, Mol Biol Lab, Bosisio Parini, LC, Italy
来源:
关键词:
LEUKOENCEPHALOPATHY;
D O I:
10.1212/WNL.0b013e3182749edc
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:2077 / 2078
页数:5
相关论文
共 7 条
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Vrije Univ Amsterdam Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, Netherlands
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Boor, Ilja
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Powers, James M.
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Scheper, Gert C.
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Vrije Univ Amsterdam Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, Netherlands
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van der Knaap, Marjo S.
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Vrije Univ Amsterdam Med Ctr, Dept Child Neurol, NL-1081 HV Amsterdam, Netherlands
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Horzinski, Laetitia
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Huyghe, Aurelia
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Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France
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Cardoso, Marie-Celeste
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Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France
Univ Clermont 1, UFR Med, Clermont Ferrand, France
CHU Clermont Ferrand, Serv Biochim Med & Biol Mol, Clermont Ferrand, France Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France

Gonthier, Celine
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Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France

Ouchchane, Lemlih
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Univ Clermont, UFR Med, EA3295, Equipe Rech Signal & Imagerie Med, Clermont Ferrand, France
Hop Gabriel Montpied, CHU Clermont Ferrand, Lab Biostat Telemat & Traitement Images, Clermont Ferrand, France Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France

Schiffmann, Raphael
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Baylor Res Inst, Inst Metab Dis, Dallas, TX USA Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France

Blanc, Pierre
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h-index: 0
机构:
Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France
CHU Clermont Ferrand, Serv Biochim Med & Biol Mol, Clermont Ferrand, France Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France

Boespflug-Tanguy, Odile
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Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France
Univ Clermont 1, UFR Med, Clermont Ferrand, France
Hop Hotel Dieu, CHU Clermont Ferrand, Serv Genet Med, Ctr Reference Leucodystrophies, Clermont Ferrand, France Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France

Fogli, Anne
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Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France
Univ Clermont 1, UFR Med, Clermont Ferrand, France
CHU Clermont Ferrand, Serv Biochim Med & Biol Mol, Clermont Ferrand, France Univ Clermont, INSERM, U931, GReD,CNRS 6247, Clermont Ferrand, France
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La Piana, Roberta
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McGill Univ, Dept Neuroradiol, Montreal Neurol Inst, Montreal, PQ, Canada McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada

Vanderver, Adeline
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van der Knaap, Marjo
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Free Univ Amsterdam, Med Ctr, Dept Pediat & Child Neurol, Amsterdam, Netherlands McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada

Roux, Louise
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Ctr Hosp Hotel Dieu Amos, Amos, PQ, Canada McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada

Tampieri, Donatella
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McGill Univ, Dept Neuroradiol, Montreal Neurol Inst, Montreal, PQ, Canada McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada

Brais, Bernard
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McGill Univ, Montreal Neurol Inst, Neurogenet Mot Lab, Montreal, PQ H3H 1P3, Canada McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada

Bernard, Genevieve
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McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada
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Leegwater, PAJ
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Oudejans, CBM
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Leegwater, PAJ
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Oudejans, CBM
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机构: Free Univ Amsterdam, Med Ctr, Dept Clin Neurol, NL-1081 HV Amsterdam, Netherlands

Schutgens, RBH
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机构: Free Univ Amsterdam, Med Ctr, Dept Clin Neurol, NL-1081 HV Amsterdam, Netherlands

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Wu, Ye
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Pan, Yanxia
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机构:
Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
Shan Xi Med Univ, Taiyuan, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Du, Li
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Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
Shan Xi Med Univ, Taiyuan, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Wang, Jingmin
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Gu, Qiang
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Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
Shan Xi Med Univ, Taiyuan, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Li, Jie
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h-index: 0
机构:
Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
Shan Xi Med Univ, Taiyuan, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Leng, Xuerong
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机构:
Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Qin, Jiong
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机构:
Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Wu, Xiru
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h-index: 0
机构:
Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Jiang, Yuwu
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China