Marjo S van der Knaap

Amsterdam University Medical Centers

Netherlands

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Research Interests

Neurology

70%

Neuropsychology

10%

Rare Disease

30%

Neurodevelopmental Disorders

20%

Retinitis Pigmentosa

20%

Medical Science

20%

Neurodegenerative Disease

20%

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Articles11

Dominant <i>CST3</i> variants cause adult onset leukodystrophy without amyloid angiopathy

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Year:

2024

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

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Year:

2022

In vivo targeting of a variant causing vanishing white matter using CRISPR/Cas9

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Year:

2022

Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy

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Year:

2022

Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1

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Year:

2022

Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy

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Year:

2022

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants

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Year:

2022

Heterogeneity of white matter astrocytes in the human brain

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Year:

2022

Isocaloric low protein diet in a mouse model for vanishing white matter does not impact ISR deregulation in brain, but reveals ISR deregulation in liver

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Year:

2022

Neonatal quantitative electroencephalography and long-term outcomes: a systematic review

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Year:

2022

DTYMK is essential for genome integrity and neuronal survival.

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Year:

2021

Collaborators13

Stefan Barakat

Associate professor

Erasmus MC

NETHERLANDS

Vivi Heine

Associate Professor

University of Amsterdam

NETHERLANDS

Samuel Groeschel

University Children's Hospital

GERMANY

julia Lier

Leipzig University

GERMANY

Nicole Ingeborg Wolf

Child Neurologist, associate professor

University of Amsterdam

NETHERLANDS

Linda J. Schoonmade

NETHERLANDS

Gerald Schwank

Associate Professor

University of Zurich

SWITZERLAND

Leslie Sanderson

Assistant Professor

Erasmus MC

NETHERLANDS

Truus E. M. Abbink

NETHERLANDS

Imke H. Bartelink

NETHERLANDS

Jodie Man

VU University Medical Center

NETHERLANDS

Diana Le Duc

Director/Professor Dr. MD/PhD

University Hospital Carl Gustav Carus Dresden

GERMANY

Mark O'Driscoll

Research Professor of Human Molecular Genetics

University of Sussex School of Life Sciences

UNITED KINGDOM

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