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Oral HPV16 DNA as a screening tool to detect early oropharyngeal squamous cell carcinoma

Cancer science, 2020-10, Vol.111 (10), p.3854-3861

2020

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Astrocytes are central in the pathomechanisms of vanishing white matter

The Journal of clinical investigation, 2016-04, Vol.126 (4), p.1512-1524

2016

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Translation matters: protein synthesis defects in inherited disease

Nature reviews. Genetics, 2007-09, Vol.8 (9), p.711-723

2007

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Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

American journal of human genetics, 2011-04, Vol.88 (4), p.422-432

2011

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Oral HPV16 Prevalence in Oral Potentially Malignant Disorders and Oral Cavity Cancers

Biomolecules (Basel, Switzerland), 2020-02, Vol.10 (2), p.223

2020

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Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways

Biochemical journal, 2013-03, Vol.450 (2), p.345-350

2013

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Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA

Biochemical journal, 2012-02, Vol.441 (3), p.955-962

2012

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Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model

Neurobiology of disease, 2011-07, Vol.43 (1), p.228-238

2011

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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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A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease

PloS one, 2013, Vol.8 (1), p.e53958-e53958

2013

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A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria

Biochemical journal, 2011-02, Vol.433 (3), p.441-446

2011

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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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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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Does phosphorylation of the cap‐binding protein eIF4E play a role in translation initiation?

European journal of biochemistry, 2002-11, Vol.269 (22), p.5350-5359

2002

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Vanishing white matter disease

Lancet neurology, 2006-05, Vol.5 (5), p.413-423

2006

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Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient

Brain & development (Tokyo. 1979), 2011-10, Vol.33 (9), p.713-717

2011

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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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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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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Nature genetics, 2007-04, Vol.39 (4), p.534-539

2007

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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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Defective Glial Maturation in Vanishing White Matter Disease

Journal of neuropathology and experimental neurology, 2011-01, Vol.70 (1), p.69-82

2011

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Defective translation initiation causes vanishing of cerebral white matter

Trends in molecular medicine, 2006-04, Vol.12 (4), p.159-166

2006

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Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

Human molecular genetics, 2011-08, Vol.20 (16), p.3266-3277

2011

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Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle

Annals of neurology, 2015-01, Vol.77 (1), p.114-131

2015

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Regulation of protein synthesis in lymphoblasts from vanishing white matter patients

Neurobiology of disease, 2006-03, Vol.21 (3), p.496-504

2006

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Oral HPV16 DNA as a screening tool to detect early oropharyngeal squamous cell carcinoma

Astrocytes are central in the pathomechanisms of vanishing white matter

Translation matters: protein synthesis defects in inherited disease

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

Oral HPV16 Prevalence in Oral Potentially Malignant Disorders and Oral Cavity Cancers

Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model

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

A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease

A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria

The Unfolded Protein Response in Vanishing White Matter Disease

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

Does phosphorylation of the cap‐binding protein eIF4E play a role in translation initiation?

Vanishing white matter disease

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient

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

Leukoencephalopathy With Vanishing White Matter: A Review

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

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

Defective Glial Maturation in Vanishing White Matter Disease

Defective translation initiation causes vanishing of cerebral white matter

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients

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