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

ανά Van der Knaap, Marjo S.
Τόπος έκδοσης AJNR Am J Neuroradiol (2003)

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

ανά Schiffmann, Raphael, van der Knaap, Marjo S.
Έκδοση 2009

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

ανά van der Knaap, Marjo S., Bugiani, Marianna
Τόπος έκδοσης Acta Neuropathol (2017)

Genetic defects disrupting glial ion and water homeostasis in the brain

ανά Min, Rogier, van der Knaap, Marjo S.
Τόπος έκδοσης Brain Pathol (2018)

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

ανά Dooves, Stephanie, van der Knaap, Marjo S., Heine, Vivi M.
Τόπος έκδοσης J Inherit Metab Dis (2016)

Leukodystrophies: Five new things

ανά van der Knaap, Marjo S., Wolf, Nicole I., Heine, Vivi M.
Τόπος έκδοσης Neurol Clin Pract (2016)

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction

ανά Bugiani, Marianna, Vuong, Caroline, Breur, Marjolein, van der Knaap, Marjo S.
Τόπος έκδοσης Brain Pathol (2018)

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

ανά Li, Wei, Wang, Xuemin, van der Knaap, Marjo S., Proud, Christopher G.
Έκδοση 2004

Progress in understanding 2-hydroxyglutaric acidurias

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

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

ανά Leferink, Prisca S., Breeuwsma, Nicole, Bugiani, Marianna, van der Knaap, Marjo S., Heine, Vivi M.
Τόπος έκδοσης Glia (2017)

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

ανά Peragallo, Jason H, Keller, Stephanie, van der Knaap, Marjo S, Soares, Bruno P, Shankar, Suma P
Τόπος έκδοσης Ophthalmic Genet (2017)

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

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

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

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

Five men with arresting and relapsing cerebral adrenoleukodystrophy

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

Pathology of the neurovascular unit in leukodystrophies

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

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

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

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

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

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

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

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy

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

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

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