Forget About “van der Knaap Syndrome,” Forget about Glycine

Autor Van der Knaap, Marjo S.
Vydáno v AJNR Am J Neuroradiol (2003)

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Autor Schiffmann, Raphael, van der Knaap, Marjo S.
Vydáno 2009

Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms

Autor van der Knaap, Marjo S., Bugiani, Marianna
Vydáno v Acta Neuropathol (2017)

Genetic defects disrupting glial ion and water homeostasis in the brain

Autor Min, Rogier, van der Knaap, Marjo S.
Vydáno v Brain Pathol (2018)

Stem cell therapy for white matter disorders: don’t forget the microenvironment!

Autor Dooves, Stephanie, van der Knaap, Marjo S., Heine, Vivi M.
Vydáno v J Inherit Metab Dis (2016)

Leukodystrophies: Five new things

Autor van der Knaap, Marjo S., Wolf, Nicole I., Heine, Vivi M.
Vydáno v Neurol Clin Pract (2016)

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction

Autor Bugiani, Marianna, Vuong, Caroline, Breur, Marjolein, van der Knaap, Marjo S.
Vydáno v Brain Pathol (2018)

Mutations Linked to Leukoencephalopathy with Vanishing White Matter Impair the Function of the Eukaryotic Initiation Factor 2B Complex in Diverse Ways

Autor Li, Wei, Wang, Xuemin, van der Knaap, Marjo S., Proud, Christopher G.
Vydáno 2004

Progress in understanding 2-hydroxyglutaric acidurias

Autor Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis
Vydáno 2012

Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter

Autor Leferink, Prisca S., Breeuwsma, Nicole, Bugiani, Marianna, van der Knaap, Marjo S., Heine, Vivi M.
Vydáno v Glia (2017)

Retinopathy and optic atrophy: expanding the phenotypic spectrum of pathogenic variants in AARS2 gene

Autor Peragallo, Jason H, Keller, Stephanie, van der Knaap, Marjo S, Soares, Bruno P, Shankar, Suma P
Vydáno v Ophthalmic Genet (2017)

Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter

Autor van der Voorn, J. Patrick, Pouwels, Petra J. W., Salomons, Gajja S., Barkhof, Frederik, van der Knaap, Marjo S.
Vydáno 2009

Adult-Onset Vanishing White Matter Disease Due to a Novel EIF2B3 Mutation

Autor La Piana, Roberta, Vanderver, Adeline, van der Knaap, Marjo, Roux, Louise, Tampieri, Donatella, Brais, Bernard, Bernard, Geneviève
Vydáno 2012

Five men with arresting and relapsing cerebral adrenoleukodystrophy

Autor Carlson, Aaron M., Huffnagel, Irene C., Verrips, Aad, van der Knaap, Marjo S., Engelen, Marc, Van Haren, Keith
Vydáno v J Neurol (2020)

Pathology of the neurovascular unit in leukodystrophies

Autor Zarekiani, Parand, Breur, Marjolein, Wolf, Nicole I., de Vries, Helga E., van der Knaap, Marjo S., Bugiani, Marianna
Vydáno v Acta Neuropathol Commun (2021)

Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy

Autor Huck, Jojanneke H. J., Verhoeven, Nanda M., Struys, Eduard A., Salomons, Gajja S., Jakobs, Cornelis, van der Knaap, Marjo S.
Vydáno 2004

Archetypal and New Families with Alexander Disease and Novel Mutations in GFAP

Autor Messing, Albee, Li, Rong, Naidu, Sakkubai, Taylor, J. Paul, Silverman, Lital, Flint, Daniel, van der Knaap, Marjo S., Brenner, Michael
Vydáno 2011

Interferon-α and the calcifying microangiopathy in Aicardi–Goutières syndrome

Autor Klok, Melanie D, Bakels, Hannah S, Postma, Nienke L, van Spaendonk, Rosalina M L, van der Knaap, Marjo S, Bugiani, Marianna
Vydáno v Ann Clin Transl Neurol (2015)

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy

Autor van Ballegoij, Wouter J. C., van de Stadt, Stephanie I. W., Huffnagel, Irene C., Kemp, Stephan, van der Knaap, Marjo S., Engelen, Marc
Vydáno v Front Physiol (2020)

Histopathologic Correlates of Radial Stripes on MR Images in Lysosomal Storage Disorders

Autor van der Voorn, J. Patrick, Pouwels, Petra J. W., Kamphorst, Wout, Powers, James M., Lammens, Martin, Barkhof, Frederik, van der Knaap, Marjo S.
Vydáno v AJNR Am J Neuroradiol (2005)