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Genotype-phenotype correlation in vanishing white matter disease

Neurology, 2010-10, Vol.75 (17), p.1555-1559

2010

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Early-onset LBSL: how severe does it get?

Neuropediatrics, 2012-12, Vol.43 (6), p.332-338

2012

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Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings

Journal of the neurological sciences, 2008-10, Vol.273 (1), p.118-122

2008

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The Mitogen-Activated Protein Kinase Signal-Integrating Kinase Mnk2 Is a Eukaryotic Initiation Factor 4E Kinase with High Levels of Basal Activity in Mammalian Cells

Molecular and Cellular Biology, 2001-02, Vol.21 (3), p.743-754

2001

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No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis

Multiple sclerosis, 2008-09, Vol.14 (8), p.1123-1126

2008

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Phosphorylation of Eukaryotic Initiation Factor 4E Markedly Reduces Its Affinity for Capped mRNA

The Journal of biological chemistry, 2002-02, Vol.277 (5), p.3303-3309

2002

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Early MR imaging and spectroscopy appearance of eIF2B-related leukoencephalopathy

Neurology, 2006-08, Vol.67 (3), p.537-538

2006

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Vanishing white matter disease associated with progressive macrocephaly

Neuropediatrics, 2008-02, Vol.39 (1), p.29-32

2008

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The Unfolded Protein Response in Vanishing White Matter Disease

Journal of neuropathology and experimental neurology, 2005-09, Vol.64 (9), p.770-775

2005

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The N and C Termini of the Splice Variants of the Human Mitogen-Activated Protein Kinase-Interacting Kinase Mnk2 Determine Activity and Localization

Molecular and Cellular Biology, 2003-08, Vol.23 (16), p.5692-5705

2003

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MLC1 : A novel protein in distal astroglial processes

Journal of neuropathology and experimental neurology, 2005-05, Vol.64 (5), p.412-419

2005

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Leukoencephalopathy with vanishing white matter presenting with presenile dementia

Journal of neurology, neurosurgery and psychiatry, 2009-07, Vol.80 (7), p.810-811

2009

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Leukoencephalopathy With Vanishing White Matter: A Review

Journal of neuropathology and experimental neurology, 2010-10, Vol.69 (10), p.987-996

2010

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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

Brain (London, England : 1878), 2014-04, Vol.137 (Pt 4), p.1019-1029

2014

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Features in the N and C Termini of the MAPK-interacting Kinase Mnk1 Mediate Its Nucleocytoplasmic Shuttling

The Journal of biological chemistry, 2003-11, Vol.278 (45), p.44197-44204

2003

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A Quantitative Molecular Model for Modulation of Mammalian Translation by the eIF4E-binding Protein 1

The Journal of biological chemistry, 2001-06, Vol.276 (23), p.20750-20757

2001

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Eukaryotic initiation factors-4E and -4F stimulate 5' cap-dependent as well as internal initiation of protein synthesis

The Journal of biological chemistry, 1992-04, Vol.267 (11), p.7269-7274

1992

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Acute fright induces onset of symptoms in vanishing white matter disease—Case report

European journal of paediatric neurology, 2006-07, Vol.10 (4), p.192-193

2006

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Conversion of a normal MRI into an MRI showing a cystic leukoencephalopathy is not a known feature of vanishing white matter

Neuropediatrics, 2007-10, Vol.38 (5), p.264-264

2007

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New Ways of Initiating Translation in Eukaryotes?

Molecular and cellular biology, 2001-12, Vol.21 (23), p.8238-8246

Schneider, Robert

2001

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Nerve and Epidermal Growth Factor Induce Protein Synthesis and eIF2B Activation in PC12 Cells

The Journal of biological chemistry, 1998-03, Vol.273 (10), p.5536-5541

1998

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Glia-Specific Activation of All Pathways of the Unfolded Protein Response in Vanishing White Matter Disease

Journal of neuropathology and experimental neurology, 2006-07, Vol.65 (7), p.707-715

2006

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Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

Human molecular genetics, 2008-12, Vol.17 (23), p.3728-3739

2008

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Regulation of translation initiation factors by signal transduction

European journal of biochemistry, 1998-05, Vol.253 (3), p.531-544

1998

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Inactivation of eIF2B and Phosphorylation of PHAS-I in Heat-shocked Rat Hepatoma Cells

The Journal of biological chemistry, 1997-10, Vol.272 (43), p.26850-26856

1997

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Genotype-phenotype correlation in vanishing white matter disease

Early-onset LBSL: how severe does it get?

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings

The Mitogen-Activated Protein Kinase Signal-Integrating Kinase Mnk2 Is a Eukaryotic Initiation Factor 4E Kinase with High Levels of Basal Activity in Mammalian Cells

No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis

Phosphorylation of Eukaryotic Initiation Factor 4E Markedly Reduces Its Affinity for Capped mRNA

Early MR imaging and spectroscopy appearance of eIF2B-related leukoencephalopathy

Vanishing white matter disease associated with progressive macrocephaly

The Unfolded Protein Response in Vanishing White Matter Disease

The N and C Termini of the Splice Variants of the Human Mitogen-Activated Protein Kinase-Interacting Kinase Mnk2 Determine Activity and Localization

MLC1 : A novel protein in distal astroglial processes

Leukoencephalopathy with vanishing white matter presenting with presenile dementia

Leukoencephalopathy With Vanishing White Matter: A Review

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

Features in the N and C Termini of the MAPK-interacting Kinase Mnk1 Mediate Its Nucleocytoplasmic Shuttling

A Quantitative Molecular Model for Modulation of Mammalian Translation by the eIF4E-binding Protein 1

Eukaryotic initiation factors-4E and -4F stimulate 5' cap-dependent as well as internal initiation of protein synthesis

Acute fright induces onset of symptoms in vanishing white matter disease—Case report

Conversion of a normal MRI into an MRI showing a cystic leukoencephalopathy is not a known feature of vanishing white matter

New Ways of Initiating Translation in Eukaryotes?

Nerve and Epidermal Growth Factor Induce Protein Synthesis and eIF2B Activation in PC12 Cells

Glia-Specific Activation of All Pathways of the Unfolded Protein Response in Vanishing White Matter Disease

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

Regulation of translation initiation factors by signal transduction

Inactivation of eIF2B and Phosphorylation of PHAS-I in Heat-shocked Rat Hepatoma Cells

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