The vanishing white matter registry: a case study of historical controls in clinical trial design
Romy J. van Voorst, Elia Gonzato, Eline M. Hamilton, Menno D. Stellingwerff et autres
0 citationsmedRxiv
Marjo S. van der Knaap
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814Publications signalées
34444Citations signalées
5Affiliations récentes
Institutions déclarées
Domaines associés
RNA regulation and diseaseMetabolism and Genetic DisordersMitochondrial Function and PathologyRNA Research and SplicingRNA modifications and cancer
Publications récentes
Swelling-induced calcium signaling in wild-type and Mlc1-null astrocytes: paradoxical effects of pharmacological TRPV4 and Piezo1 inhibition
Quinty Bisseling, Vera Kuhnke, Maria S. Brignone, Elena Ambrosini et autres
0 citationsFrontiers in Cellular Neuroscience
Safety and efficacy of guanabenz in early-childhood onset vanishing white matter: primary analysis of a single-arm, phase 1/2 trial
Marjo S. van der Knaap, R.J. Verbeek, Romy J. van Voorst, Elia Gonzato et autres
0 citationsThe Lancet Neurology
Pediatric pharmacokinetics and pharmacodynamics of guanabenz for the treatment of vanishing white matter
Linda G. Franken, Bart van Lieshout, Joshua Eugenio, Renate Verbeek et autres
1 citationScientific Reports
Expanding the Clinicoradiologic Phenotype of the CTSA -Associated Small Vessel Disease CARASAL
Minne N. Cerfontaine, Gido Gravesteijn, Remco J. Hack, Benno Gesierich et autres
0 citationsNeurology Genetics
Hypomyelination of Early Myelinating Brain Structures
Liliana Igreja, Rosa A. S. Couto, Luis A. Salazar, Vasco Sousa Abreu et autres
0 citationsNeuropediatrics
Astrocyte-specific deletion of LRRC8A causes neurological dysfunction but not chronic white matter edema
Sven Kerst, Leoni Hoogterp, Marjolein Breur, Gemma van Rooijen-van Leeuwen et autres
1 citationNeurobiology of Disease
Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis
Guus H.J. Vorst, Nicole I. Wolf, David R. van Nederpelt, Frederik Barkhof et autres
0 citationsNeuroImage Clinical
The Impact of RNA Polymerase III–Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study
Adam Le, Kelly-Ann Thibault, Pouneh Amir-Yazdani, Alexandra Chapleau et autres
0 citationsPediatric Neurology
Altered Mechanical Properties of Astrocytes Lacking MLC1 : Implications for the Leukodystrophy MLC
Quinty Bisseling, Emma M. J. Passchier, Freya M. Kirwan, Nelda Antonovaité et autres
1 citationGlia
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter
Romy J. van Voorst, Daphne H. Schoenmakers, Joshua L. Bonkowsky, Adeline Vanderver et autres
3 citationsNeurology
Cognitive and intellectual functioning in leukodystrophy patients: a systematic review
Wietske H. M. Grol, Marjo S. van der Knaap, Nicole I. Wolf, Gert J. Geurtsen
2 citationsOrphanet Journal of Rare Diseases
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