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

بواسطة Van der Knaap, Marjo S.
الحاوية / القاعدة AJNR Am J Neuroradiol (2003)

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

بواسطة Schiffmann, Raphael, van der Knaap, Marjo S.
منشور في 2009

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

بواسطة van der Knaap, Marjo S., Bugiani, Marianna
الحاوية / القاعدة Acta Neuropathol (2017)

Genetic defects disrupting glial ion and water homeostasis in the brain

بواسطة Min, Rogier, van der Knaap, Marjo S.
الحاوية / القاعدة Brain Pathol (2018)

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

بواسطة Dooves, Stephanie, van der Knaap, Marjo S., Heine, Vivi M.
الحاوية / القاعدة J Inherit Metab Dis (2016)

Leukodystrophies: Five new things

بواسطة van der Knaap, Marjo S., Wolf, Nicole I., Heine, Vivi M.
الحاوية / القاعدة Neurol Clin Pract (2016)

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction

بواسطة Bugiani, Marianna, Vuong, Caroline, Breur, Marjolein, van der Knaap, Marjo S.
الحاوية / القاعدة Brain Pathol (2018)

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

بواسطة Li, Wei, Wang, Xuemin, van der Knaap, Marjo S., Proud, Christopher G.
منشور في 2004

Progress in understanding 2-hydroxyglutaric acidurias

بواسطة Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis
منشور في 2012

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

بواسطة Leferink, Prisca S., Breeuwsma, Nicole, Bugiani, Marianna, van der Knaap, Marjo S., Heine, Vivi M.
الحاوية / القاعدة Glia (2017)

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

بواسطة Peragallo, Jason H, Keller, Stephanie, van der Knaap, Marjo S, Soares, Bruno P, Shankar, Suma P
الحاوية / القاعدة Ophthalmic Genet (2017)

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

بواسطة van der Voorn, J. Patrick, Pouwels, Petra J. W., Salomons, Gajja S., Barkhof, Frederik, van der Knaap, Marjo S.
منشور في 2009

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

بواسطة La Piana, Roberta, Vanderver, Adeline, van der Knaap, Marjo, Roux, Louise, Tampieri, Donatella, Brais, Bernard, Bernard, Geneviève
منشور في 2012

Five men with arresting and relapsing cerebral adrenoleukodystrophy

بواسطة Carlson, Aaron M., Huffnagel, Irene C., Verrips, Aad, van der Knaap, Marjo S., Engelen, Marc, Van Haren, Keith
الحاوية / القاعدة J Neurol (2020)

Pathology of the neurovascular unit in leukodystrophies

بواسطة Zarekiani, Parand, Breur, Marjolein, Wolf, Nicole I., de Vries, Helga E., van der Knaap, Marjo S., Bugiani, Marianna
الحاوية / القاعدة Acta Neuropathol Commun (2021)

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

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

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

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

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

بواسطة Klok, Melanie D, Bakels, Hannah S, Postma, Nienke L, van Spaendonk, Rosalina M L, van der Knaap, Marjo S, Bugiani, Marianna
الحاوية / القاعدة Ann Clin Transl Neurol (2015)

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy

بواسطة van Ballegoij, Wouter J. C., van de Stadt, Stephanie I. W., Huffnagel, Irene C., Kemp, Stephan, van der Knaap, Marjo S., Engelen, Marc
الحاوية / القاعدة Front Physiol (2020)

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

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