共 4 条
Leukoencephalopathy with vanishing white matter: An adult onset case
被引:26
作者:

Biancheri, R
论文数: 0 引用数: 0
h-index: 0
机构: Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy

Rossi, A
论文数: 0 引用数: 0
h-index: 0
机构: Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy

Di Rocco, M
论文数: 0 引用数: 0
h-index: 0
机构: Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy

Filocamo, M
论文数: 0 引用数: 0
h-index: 0
机构: Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy

Pronk, JC
论文数: 0 引用数: 0
h-index: 0
机构: Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy

van der Knaap, MS
论文数: 0 引用数: 0
h-index: 0
机构: Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy

Tortori-Donati, P
论文数: 0 引用数: 0
h-index: 0
机构: Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy
机构:
[1] Ist Giannina Gaslini, Dept Pediat Neuroradiol, I-16148 Genoa, Italy
[2] Ist Giannina Gaslini, Neuromuscular Dis Unit, I-16148 Genoa, Italy
[3] Ist Giannina Gaslini, Unit Pediat 2, I-16148 Genoa, Italy
[4] Ist Giannina Gaslini, Lab Diag Prepostnatale Malattie Metab, I-16148 Genoa, Italy
[5] Free Univ Amsterdam, Med Ctr, Dept Human Genet, Amsterdam, Netherlands
[6] Free Univ Amsterdam, Med Ctr, Dept Child Neurol, Amsterdam, Netherlands
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D O I:
10.1212/01.WNL.0000098994.35677.3C
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]
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页码:1818 / 1819
页数:2
相关论文
共 4 条
[1]
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
[J].
Leegwater, PAJ
;
Vermeulen, G
;
Könst, AAM
;
Naidu, S
;
Mulders, J
;
Visser, A
;
Kersbergen, P
;
Mobach, D
;
Fonds, D
;
van Berkel, CGM
;
Lemmers, RJLF
;
Frants, RR
;
Oudejans, CBM
;
Schutgens, RBH
;
Pronk, JC
;
van der Knaap, MS
.
NATURE GENETICS,
2001, 29 (04)
:383-388

Leegwater, PAJ
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

Vermeulen, G
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

Könst, AAM
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

论文数: 引用数:
h-index:
机构:

Mulders, J
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

Visser, A
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

Kersbergen, P
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

Mobach, D
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

Fonds, D
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

van Berkel, CGM
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

Lemmers, RJLF
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

Frants, RR
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

Oudejans, CBM
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

Schutgens, RBH
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

Pronk, JC
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands

van der Knaap, MS
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Human Genet, NL-1081 BT Amsterdam, Netherlands
[2]
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
[J].
van der Knaap, MS
;
Leegwater, PAJ
;
Könst, AAM
;
Visser, A
;
Naidu, S
;
Oudejans, CBM
;
Schutgens, RBH
;
Pronk, JC
.
ANNALS OF NEUROLOGY,
2002, 51 (02)
:264-270

van der Knaap, MS
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Clin Neurol, NL-1081 HV Amsterdam, Netherlands

Leegwater, PAJ
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Clin Neurol, NL-1081 HV Amsterdam, Netherlands

Könst, AAM
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Clin Neurol, NL-1081 HV Amsterdam, Netherlands

Visser, A
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Clin Neurol, NL-1081 HV Amsterdam, Netherlands

论文数: 引用数:
h-index:
机构:

Oudejans, CBM
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Clin Neurol, NL-1081 HV Amsterdam, Netherlands

Schutgens, RBH
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Clin Neurol, NL-1081 HV Amsterdam, Netherlands

Pronk, JC
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam, Med Ctr, Dept Clin Neurol, NL-1081 HV Amsterdam, Netherlands
[3]
Phenotypic variation in leukoencephalopathy with vanishing white matter
[J].
van der Knaap, MS
;
Kamphorst, M
;
Barth, PG
;
Kraaijeveld, CL
;
Gut, E
;
Valk, J
.
NEUROLOGY,
1998, 51 (02)
:540-547

van der Knaap, MS
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam Hosp, Dept Child Neurol, NL-1007 MB Amsterdam, Netherlands

Kamphorst, M
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam Hosp, Dept Child Neurol, NL-1007 MB Amsterdam, Netherlands

Barth, PG
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam Hosp, Dept Child Neurol, NL-1007 MB Amsterdam, Netherlands

Kraaijeveld, CL
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam Hosp, Dept Child Neurol, NL-1007 MB Amsterdam, Netherlands

Gut, E
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam Hosp, Dept Child Neurol, NL-1007 MB Amsterdam, Netherlands

Valk, J
论文数: 0 引用数: 0
h-index: 0
机构: Free Univ Amsterdam Hosp, Dept Child Neurol, NL-1007 MB Amsterdam, Netherlands
[4]
A new leukoencephalopathy with vanishing white matter
[J].
vanderKnaap, MS
;
Barth, PG
;
Gabreels, FJM
;
Franzoni, E
;
Begeer, JH
;
Stroink, H
;
Rotteveel, JJ
;
Valk, J
.
NEUROLOGY,
1997, 48 (04)
:845-855

vanderKnaap, MS
论文数: 0 引用数: 0
h-index: 0
机构: EMMA CHILDRENS HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS

Barth, PG
论文数: 0 引用数: 0
h-index: 0
机构: EMMA CHILDRENS HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS

Gabreels, FJM
论文数: 0 引用数: 0
h-index: 0
机构: EMMA CHILDRENS HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS

论文数: 引用数:
h-index:
机构:

Begeer, JH
论文数: 0 引用数: 0
h-index: 0
机构: EMMA CHILDRENS HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS

Stroink, H
论文数: 0 引用数: 0
h-index: 0
机构: EMMA CHILDRENS HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS

Rotteveel, JJ
论文数: 0 引用数: 0
h-index: 0
机构: EMMA CHILDRENS HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS

Valk, J
论文数: 0 引用数: 0
h-index: 0
机构: EMMA CHILDRENS HOSP,DEPT PEDIAT,AMSTERDAM,NETHERLANDS