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Vanishing white matter.
van der Knaap MS, Bugiani M, Abbink TEM. van der Knaap MS, et al. Handb Clin Neurol. 2024;204:77-94. doi: 10.1016/B978-0-323-99209-1.00015-6. Handb Clin Neurol. 2024. PMID: 39322396 Review.
MRI pattern recognition in white matter disease.
Wolf NI, Engelen M, van der Knaap MS. Wolf NI, et al. Among authors: van der knaap ms. Handb Clin Neurol. 2024;204:37-50. doi: 10.1016/B978-0-323-99209-1.00019-3. Handb Clin Neurol. 2024. PMID: 39322391 Review.
Amino-acyl tRNA synthetases associated with leukodystrophy.
Engelen M, van der Knaap MS, Wolf NI. Engelen M, et al. Among authors: van der knaap ms. Handb Clin Neurol. 2024;204:253-261. doi: 10.1016/B978-0-323-99209-1.00020-X. Handb Clin Neurol. 2024. PMID: 39322382 Review.
Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures.
Stellingwerff MD, Al-Saady ML, Chan KS, Dvorak A, Marques JP, Kolind S, Schoenmakers DH, van Voorst R, Roosendaal SD, Barkhof F, Wolf NI, Berkhof J, Pouwels PJW, van der Knaap MS. Stellingwerff MD, et al. Among authors: van der knaap ms. Eur Radiol. 2024 Sep 25. doi: 10.1007/s00330-024-11089-5. Online ahead of print. Eur Radiol. 2024. PMID: 39320477
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.
Schoenmakers DH, van den Berg S, Timmers L, Adang LA, Bäumer T, Bosch A, van de Casteele M, Datema MR, Dekker H, Donnelly C, Driessens MHE, Graessner H, Greger V, Haddad T, Höglinger GU, van den Hout H, Jonker C, Langeveld M, Lambert LJ, Neacy E, Nieuwland M, Klockgether T, van der Knaap MS, Papadopoulou A, Plueschke K, van Rijn S, Rosenberg N, Saunier-Vivar EF, Dos Santos Vieira B, Hollak CEM, Goettsch WG, Wolf NI. Schoenmakers DH, et al. Among authors: van der knaap ms. Neurology. 2024 Sep 24;103(6):e209743. doi: 10.1212/WNL.0000000000209743. Epub 2024 Aug 22. Neurology. 2024. PMID: 39173102 Free PMC article.
Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings.
Beerepoot S, Verbeke JIML, Plantinga M, Nierkens S, Pouwels PJW, Wolf NI, Simons C, van der Knaap MS. Beerepoot S, et al. Among authors: van der knaap ms. Am J Med Genet A. 2024 Nov;194(11):e63800. doi: 10.1002/ajmg.a.63800. Epub 2024 Jun 27. Am J Med Genet A. 2024. PMID: 38934054
466 results