van der Knaap MS - Search Results

1

Expanding the Spectrum of NUBPL-Related Leukodystrophy.

Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. Tonduti D, et al. Among authors: van der knaap ms. Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3. Neuropediatrics. 2023. PMID: 36868263 Review.

2

Cortical laminar abnormalities--occurrence and clinical significance.

van der Knaap MS, Smit LS, Nauta JJ, Lafeber HN, Valk J. van der Knaap MS, et al. Neuropediatrics. 1993 Jun;24(3):143-8. doi: 10.1055/s-2008-1071532. Neuropediatrics. 1993. PMID: 8355819

3

MRI assessment of myelination of motor and sensory pathways in the brain of preterm and term-born infants.

Sie LT, van der Knaap MS, van Wezel-Meijler G, Valk J. Sie LT, et al. Among authors: van wezel meijler g, van der knaap ms. Neuropediatrics. 1997 Apr;28(2):97-105. doi: 10.1055/s-2007-973680. Neuropediatrics. 1997. PMID: 9208409

4

MR patterns of hypoxic-ischemic brain damage after prenatal, perinatal or postnatal asphyxia.

Sie LT, van der Knaap MS, Oosting J, de Vries LS, Lafeber HN, Valk J. Sie LT, et al. Among authors: van der knaap ms. Neuropediatrics. 2000 Jun;31(3):128-36. doi: 10.1055/s-2000-7496. Neuropediatrics. 2000. PMID: 10963099

5

Clinical presentations of patients with polyol abnormalities.

Huck JH, Verhoeven NM, van Hagen JM, Jakobs C, van der Knaap MS. Huck JH, et al. Among authors: van hagen jm, van der knaap ms. Neuropediatrics. 2004 Jun;35(3):167-73. doi: 10.1055/s-2004-820918. Neuropediatrics. 2004. PMID: 15248099

6

Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging.

van Egmond ME, Vermeulen RJ, Peeters-Scholte CM, Augoustides-Savvopoulou P, Abbink F, Boelens JJ, van der Knaap MS. van Egmond ME, et al. Among authors: van der knaap ms. Neuropediatrics. 2011 Oct;42(5):191-3. doi: 10.1055/s-0031-1287788. Epub 2011 Sep 29. Neuropediatrics. 2011. PMID: 21959744

7

COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y. Livingston J, et al. Neuropediatrics. 2011 Dec;42(6):227-33. doi: 10.1055/s-0031-1295493. Epub 2011 Dec 1. Neuropediatrics. 2011. PMID: 22134833

8

Characteristics of early MRI in children and adolescents with vanishing white matter.

van der Lei HD, Steenweg ME, Barkhof F, de Grauw T, d'Hooghe M, Morton R, Shah S, Wolf N, van der Knaap MS. van der Lei HD, et al. Among authors: van der knaap ms. Neuropediatrics. 2012 Feb;43(1):22-6. doi: 10.1055/s-0032-1307456. Epub 2012 Mar 19. Neuropediatrics. 2012. PMID: 22430157

9

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M. Steenweg ME, et al. Among authors: van berkel cg, van der knaap ms. Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4. Brain. 2012. PMID: 22492562 Free article.

10

Early-onset LBSL: how severe does it get?

Steenweg ME, van Berge L, van Berkel CG, de Coo IF, Temple IK, Brockmann K, Mendonça CI, Vojta S, Kolk A, Peck D, Carr L, Uziel G, Feigenbaum A, Blaser S, Scheper GC, van der Knaap MS. Steenweg ME, et al. Among authors: van berge l, van berkel cg, van der knaap ms. Neuropediatrics. 2012 Dec;43(6):332-8. doi: 10.1055/s-0032-1329395. Epub 2012 Oct 12. Neuropediatrics. 2012. PMID: 23065766

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