Marjo van der Knaap

PROF.DR., (Principal Investigator)

19992019
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Research Output 1999 2019

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2019

Severe leukoencephalopathy with clinical recovery caused by recessive BOLA3 mutations

Stutterd, C. A., Lake, N. J., Peters, H., Lockhart, P. J., Taft, R. J., van der Knaap, M. S., Vanderver, A., Thorburn, D. R., Simons, C. & Leventer, R. J., 2019, JIMD Reports. Springer, Vol. 43. p. 63-70 (JIMD Reports).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

2016

2-hydroxyglutaric aciduria

Struys, EA., van der Knaap, MS. & Salomons, GS., 18 Aug 2016, Inherited Metabolic Disease in Adults: A Clinical Guide. Hollak, CEM. & Lachmann, R. (eds.). Oxford University Press, Chapter 22

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

TUBB4A-Related Leukodystrophy

Nahhas, N., Conant, A., Hamilton, EMC., Curiel, J., Simons, C., van der Knaap, MS. & Vanderver, A., 3 Nov 2016, GeneReviews® [Internet]. Pagon, RA., Adam, MP., Ardinger, HH. & E. A. (eds.). Seattle (WA), USA: University of Washington, Seattle, Vol. 1993-2017.

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2015

CLCN2-Related Leukoencephalopathy

Knaap, M., Depienne, C., Sedel, F. & Abbink, T. E. M., 2015, GeneReviews® [internet]. Seattle (WA): University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Hypomyelination and Congenital Cataract

Biancheri, R., Zara, F., Bruno, C., Gazzerro, E., Rossi, A., Knaap, M. & Minetti, C., 2015, GeneReviews® [internet]. Seattle (WA): University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2014

Cerebral Organic Acidurias

Kolker, S., Struijs, E. A., van der Knaap, M. S. & Jakobs, C. A. J. M., 2014, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Berlin Heidelberg: Springer, p. 143-156

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Leukodytstophy overview

Vanderver, A., Tonduti, D., Schiffmann, R., Schmidt, J. & van der Knaap, M. S., 2014, GeneReviews® [Internet]. Seattle (WA): University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Vanishing white matter disease (CACH syndrome)

Scheper, G. C. & van der Knaap, M. S., 2014, Encyclopedia of the Neurological Sciences. Oxford: Academic Press, p. 595-601

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2011

Hypomyelination and Congenital Cataract

Biancheri, R., Zara, F., Bruno, C., Gazzerro, E., Rossi, A., van der Knaap, M. S. & Minetti, C., 2011, GeneReviews [Internet].. Seattle (WA): University of Washington, p. 1

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation. LBSL, Mitochondrial Aspartyl-tRNA Synthetase Deficiency

van der Knaap, M. S. & Scheper, G. C., 2011, GeneReviews [Internet].. Seattle (WA): University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2010

Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter

Schiffmann, R., Fogli, A., van der Knaap, M. S. & Boespflug-Tanguy, O., 2010, GeneReviews™ at GeneTests: Medical Genetics information Resource. Seattle (WA), USA: University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Vanishing White Matter

van der Knaap, M. S., Bugiani, M., Boor, I., Proud, C. G. & Scheper, G. C., 2010, The Online Metabolic and Molecular Bases of Inherited Diseases (OMMBID). New York: McGraw-Hill, p. chapter-235.1 (Neurogenetics; no. Part 28).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic