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

Por Schiffmann, Raphael, van der Knaap, Marjo S.
Publicado em 2009

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

Por van der Knaap, Marjo S., Bugiani, Marianna
Publicado no Acta Neuropathol (2017)

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

Por Dooves, Stephanie, van der Knaap, Marjo S., Heine, Vivi M.
Publicado no J Inherit Metab Dis (2016)

Leukodystrophies: Five new things

Por van der Knaap, Marjo S., Wolf, Nicole I., Heine, Vivi M.
Publicado no Neurol Clin Pract (2016)

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

Por Li, Wei, Wang, Xuemin, van der Knaap, Marjo S., Proud, Christopher G.
Publicado em 2004

Progress in understanding 2-hydroxyglutaric acidurias

Por Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis
Publicado em 2012

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

Por Leferink, Prisca S., Breeuwsma, Nicole, Bugiani, Marianna, van der Knaap, Marjo S., Heine, Vivi M.
Publicado no Glia (2017)

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

Por Peragallo, Jason H, Keller, Stephanie, van der Knaap, Marjo S, Soares, Bruno P, Shankar, Suma P
Publicado no Ophthalmic Genet (2017)

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

Por van der Voorn, J. Patrick, Pouwels, Petra J. W., Salomons, Gajja S., Barkhof, Frederik, van der Knaap, Marjo S.
Publicado em 2009

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

Por La Piana, Roberta, Vanderver, Adeline, van der Knaap, Marjo, Roux, Louise, Tampieri, Donatella, Brais, Bernard, Bernard, Geneviève
Publicado em 2012

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

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

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

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

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

Por Klok, Melanie D, Bakels, Hannah S, Postma, Nienke L, van Spaendonk, Rosalina M L, van der Knaap, Marjo S, Bugiani, Marianna
Publicado no Ann Clin Transl Neurol (2015)

Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway

Por Verhoeven, Nanda M., Huck, Jojanneke H. J., Roos, Birthe, Struys, Eduard A., Salomons, Gajja S., Douwes, Adriaan C., van der Knaap, Marjo S., Jakobs, Cornelis
Publicado em 2001

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

Por van der Pol, Rachel J., Benninga, Marc A., Magré, Jocelyne, Van Maldergem, Lionel, Rotteveel, Joost, van der Knaap, Marjo S., de Meij, Tim G.
Publicado no Eur J Pediatr (2015)

Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase

Por Grossman, Craig E., Niland, Brian, Stancato, Christina, Verhoeven, Nanda M., van der Knaap, Marjo S., Jakobs, Cornelis, Brown, Lawrence M., Vajda, Sandor, Banki, Katalin, Perl, Andras
Publicado em 2004

Diffusion tensor imaging in metachromatic leukodystrophy

Por van Rappard, Diane F., Königs, Marsh, Steenweg, Marjan E., Boelens, Jaap Jan, Oosterlaan, Jaap, van der Knaap, Marjo S., Wolf, Nicole I., Pouwels, Petra J. W.
Publicado no J Neurol (2018)

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

Por Lemmens, Robin, Maugeri, Alessandra, Niessen, Hans W. M., Goris, An, Tousseyn, Thomas, Demaerel, Philippe, Corveleyn, Anniek, Robberecht, Wim, van der Knaap, Marjo S., Thijs, Vincent N., Zwijnenburg, Petra J.G.
Publicado em 2013

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Por Gutierrez, Mariana, Thiffault, Isabelle, Guerrero, Kether, Martos-Moreno, Gabriel Á., Tran, Luan T., Benko, William, van der Knaap, Marjo S., van Spaendonk, Rosalina M. L., Wolf, Nicole I., Bernard, Geneviève
Publicado no Orphanet J Rare Dis (2015)

A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination

Por Duncan, Ian D., Bugiani, Marianna, Radcliff, Abigail B., Moran, John J., Lopez-Anido, Camila, Duong, Phu, August, Benjamin K., Wolf, Nicole I., van der Knaap, Marjo S., Svaren, John
Publicado no Ann Neurol (2017)