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  1. Article ; Online: Rapidly progressive dementias - leukodystrophies as a potentially treatable cause.

    Wolf, Nicole I / Pijnenburg, Yolande A L / van der Knaap, Marjo S

    Nature reviews. Neurology

    2022  Volume 18, Issue 12, Page(s) 758

    MeSH term(s) Humans ; Dementia/etiology ; Neurodegenerative Diseases
    Language English
    Publishing date 2022-10-27
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 2491514-2
    ISSN 1759-4766 ; 1759-4758
    ISSN (online) 1759-4766
    ISSN 1759-4758
    DOI 10.1038/s41582-022-00740-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6257: Show issues Location:
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    Zs.MG 88: Show issues

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  2. Article ; Online: Basal nuclei are not involved in early metachromatic leukodystrophy.

    Beerepoot, Shanice / Schoenmakers, Daphne H / van der Knaap, Marjo S / Wolf, Nicole I

    Clinical neurology and neurosurgery

    2023  Volume 228, Page(s) 107696

    MeSH term(s) Humans ; Leukodystrophy, Metachromatic/diagnosis ; Basal Ganglia
    Language English
    Publishing date 2023-03-27
    Publishing country Netherlands
    Document type Letter ; Comment
    ZDB-ID 193107-6
    ISSN 1872-6968 ; 0303-8467
    ISSN (online) 1872-6968
    ISSN 0303-8467
    DOI 10.1016/j.clineuro.2023.107696
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Reply to "Type I IFN Signature in NOTCH1-Related Leukoencephalopathy".

    Verhoeven, Dorit / Tromp, Samantha A M / van der Knaap, Marjo S / Kuijpers, Taco W

    Annals of neurology

    2023  Volume 93, Issue 5, Page(s) 1043–1045

    MeSH term(s) Humans ; Interferon Type I ; Receptor, Notch1/genetics
    Chemical Substances Interferon Type I ; NOTCH1 protein, human ; Receptor, Notch1
    Language English
    Publishing date 2023-03-20
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26629
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    Zs.A 1370: Show issues Location:
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    Zs.MO 478: Show issues

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  4. Book: Magnetic resonance of myelination and myelin disorders

    Knaap, Marjo S. van der

    2005  

    Author's details Marjo S. van der Knaap
    Keywords Demyelinating Diseases / diagnosis ; Magnetic Resonance Imaging ; Myelin Sheath / physiology ; Myelogenese ; Kernspintomografie ; Myelin ; Entmarkungskrankheit
    Subject Kernspintomographie ; NMR-Tomographie ; Magnetische Kernresonanztomographie ; MR-Tomographie ; Kernspinresonanztomographie ; MRI ; Magnetic resonance imaging ; IRM ; Magnetresonanztomographie ; Magnetresonanztomografie ; MRT ; NMR-Tomografie ; Nukleare Kernspintomographie ; MR-Bildgebung ; Demyelinisierungskrankheit ; Markbildung ; Myelinisation ; Myelognie
    Language English
    Size XVI, 1084 S. : zahlr. Ill., 270 mm x 193 mm
    Edition 3. ed.
    Publisher Springer
    Publishing place Berlin u.a.
    Publishing country Germany
    Document type Book
    Old title 2. Aufl. u.d.T. Knaap, Marjo S. van der: Magnetic resonance of myelin, myelination, and myelin disorders
    HBZ-ID HT014400061
    ISBN 3-540-22286-3 ; 978-3-540-22286-6
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2005 A 2222 order for loan Magazin

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  5. Article ; Online: Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain.

    Wolf, Nicole I / van der Knaap, Marjo S

    Neurology

    2020  Volume 94, Issue 10, Page(s) 458

    MeSH term(s) Brain ; Humans ; Jacobsen Distal 11q Deletion Syndrome
    Language English
    Publishing date 2020-03-09
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000009070
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.MO 374: Show issues

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  6. Article: Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

    Passchier, Emma M J / Bisseling, Quinty / Helman, Guy / van Spaendonk, Rosalina M L / Simons, Cas / Olsthoorn, René C L / van der Veen, Hieke / Abbink, Truus E M / van der Knaap, Marjo S / Min, Rogier

    Frontiers in genetics

    2024  Volume 15, Page(s) 1352947

    Abstract: The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilepsy ... ...

    Abstract The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilepsy and slow cognitive decline. No treatment is available. Classic MLC is caused by bi-allelic recessive pathogenic variants in
    Language English
    Publishing date 2024-02-29
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2024.1352947
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Letter to the Editor: The Application of Interleukin-1 Antagonists in Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: Caution Warranted.

    Hamilton, Eline M C / Topaloglu, Pinar / Sinha, Jigyasha / Nicita, Francesco / Bernard, Geneviève / Fatemi, S Ali / van der Knaap, Marjo S

    Pediatric neurology

    2023  Volume 150, Page(s) 15–16

    MeSH term(s) Humans ; Interleukin-1 ; Cysts ; Hereditary Central Nervous System Demyelinating Diseases ; Mutation
    Chemical Substances Interleukin-1
    Language English
    Publishing date 2023-10-21
    Publishing country United States
    Document type Letter
    ZDB-ID 639164-3
    ISSN 1873-5150 ; 0887-8994
    ISSN (online) 1873-5150
    ISSN 0887-8994
    DOI 10.1016/j.pediatrneurol.2023.10.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2260: Show issues Location:
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  8. Article ; Online: In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice.

    Böck, Desirée / Revers, Ilma M / Bomhof, Anastasia S J / Hillen, Anne E J / Boeijink, Claire / Kissling, Lucas / Egli, Sabina / Moreno-Mateos, Miguel A / van der Knaap, Marjo S / van Til, Niek P / Schwank, Gerald

    Molecular therapy : the journal of the American Society of Gene Therapy

    2024  Volume 32, Issue 5, Page(s) 1328–1343

    Abstract: Vanishing white matter (VWM) is a fatal leukodystrophy caused by recessive mutations in subunits of the eukaryotic translation initiation factor 2B. Currently, there are no effective therapies for VWM. Here, we assessed the potential of adenine base ... ...

    Abstract Vanishing white matter (VWM) is a fatal leukodystrophy caused by recessive mutations in subunits of the eukaryotic translation initiation factor 2B. Currently, there are no effective therapies for VWM. Here, we assessed the potential of adenine base editing to correct human pathogenic VWM variants in mouse models. Using adeno-associated viral vectors, we delivered intein-split adenine base editors into the cerebral ventricles of newborn VWM mice, resulting in 45.9% ± 5.9% correction of the Eif2b5
    MeSH term(s) Animals ; Mice ; Gene Editing ; Eukaryotic Initiation Factor-2B/genetics ; Eukaryotic Initiation Factor-2B/metabolism ; Disease Models, Animal ; Leukoencephalopathies/genetics ; Leukoencephalopathies/therapy ; Leukoencephalopathies/pathology ; Dependovirus/genetics ; Phenotype ; Humans ; Genetic Vectors/genetics ; Genetic Vectors/administration & dosage ; Female ; Mutation ; Genetic Therapy/methods ; White Matter/pathology ; White Matter/metabolism ; Astrocytes/metabolism
    Chemical Substances Eukaryotic Initiation Factor-2B
    Language English
    Publishing date 2024-03-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2010592-7
    ISSN 1525-0024 ; 1525-0016
    ISSN (online) 1525-0024
    ISSN 1525-0016
    DOI 10.1016/j.ymthe.2024.03.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5640: Show issues Location:
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  9. Article: Lithium: effects in animal models of vanishing white matter are not promising.

    Witkamp, Diede / Oudejans, Ellen / Hoogterp, Leoni / Hu-A-Ng, Gino V / Glaittli, Kathryn A / Stevenson, Tamara J / Huijsmans, Marleen / Abbink, Truus E M / van der Knaap, Marjo S / Bonkowsky, Joshua L

    Frontiers in neuroscience

    2024  Volume 18, Page(s) 1275744

    Abstract: Vanishing white matter (VWM) is a devastating autosomal recessive leukodystrophy, resulting in neurological deterioration and premature death, and without curative treatment. Pathogenic hypomorphic variants in subunits of the eukaryotic initiation factor ...

    Abstract Vanishing white matter (VWM) is a devastating autosomal recessive leukodystrophy, resulting in neurological deterioration and premature death, and without curative treatment. Pathogenic hypomorphic variants in subunits of the eukaryotic initiation factor 2B (eIF2B) cause VWM. eIF2B is required for regulating the integrated stress response (ISR), a physiological response to cellular stress. In patients' central nervous system, reduced eIF2B activity causes deregulation of the ISR. In VWM mouse models, the extent of ISR deregulation correlates with disease severity. One approach to restoring eIF2B activity is by inhibition of GSK3β, a kinase that phosphorylates eIF2B and reduces its activity. Lithium, an inhibitor of GSK3β, is thus expected to stimulate eIF2B activity and ameliorate VWM symptoms. The effects of lithium were tested in zebrafish and mouse VWM models. Lithium improved motor behavior in homozygous
    Language English
    Publishing date 2024-01-30
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2411902-7
    ISSN 1662-453X ; 1662-4548
    ISSN (online) 1662-453X
    ISSN 1662-4548
    DOI 10.3389/fnins.2024.1275744
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Quantitative MRI in leukodystrophies.

    Stellingwerff, Menno D / Pouwels, Petra J W / Roosendaal, Stefan D / Barkhof, Frederik / van der Knaap, Marjo S

    NeuroImage. Clinical

    2023  Volume 38, Page(s) 103427

    Abstract: Leukodystrophies constitute a large and heterogeneous group of genetic diseases primarily affecting the white matter of the central nervous system. Different disorders target different white matter structural components. Leukodystrophies are most often ... ...

    Abstract Leukodystrophies constitute a large and heterogeneous group of genetic diseases primarily affecting the white matter of the central nervous system. Different disorders target different white matter structural components. Leukodystrophies are most often progressive and fatal. In recent years, novel therapies are emerging and for an increasing number of leukodystrophies trials are being developed. Objective and quantitative metrics are needed to serve as outcome measures in trials. Quantitative MRI yields information on microstructural properties, such as myelin or axonal content and condition, and on the chemical composition of white matter, in a noninvasive fashion. By providing information on white matter microstructural involvement, quantitative MRI may contribute to the evaluation and monitoring of leukodystrophies. Many distinct MR techniques are available at different stages of development. While some are already clinically applicable, others are less far developed and have only or mainly been applied in healthy subjects. In this review, we explore the background, current status, potential and challenges of available quantitative MR techniques in the context of leukodystrophies.
    MeSH term(s) Humans ; Demyelinating Diseases ; Magnetic Resonance Imaging ; Myelin Sheath ; White Matter/diagnostic imaging ; Axons
    Language English
    Publishing date 2023-05-03
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2701571-3
    ISSN 2213-1582 ; 2213-1582
    ISSN (online) 2213-1582
    ISSN 2213-1582
    DOI 10.1016/j.nicl.2023.103427
    Database MEDical Literature Analysis and Retrieval System OnLINE

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