M.S. van der Knaap

prof. dr.

19972019
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Research Output 1997 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. Morava, E. (ed.). Springer, p. 63-70 8 p. (JIMD Reports; vol. 43).

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

Leukoencephalopathies
Fibroblasts
Magnetic resonance imaging
Recovery
Mutation
2015

CLCN2-Related Leukoencephalopathy

Knaap, M., Depienne, C., Sedel, F. & Abbink, T. E. M., 2015, GeneReviews® [internet]. Pagon, R. A., Adam, M. P. & Ardinger, H. H. (eds.). 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., 4 Jun 2015, GeneReviews® [internet]. Pagon, R. A., Adam, M. P. & Ardinger, H. H. (eds.). Seattle, WA: University of Washington, 1 p.

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]. Pagon, R. A., Adam, M. P., Ardinger, H. H., Bird, T. D., Dolan, C. R., Fong, C. T., Smith, R. J. H. & Stephens, K. (eds.). 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. Aminoff, M. F. & Daroff, R. B. (eds.). Oxford: Academic Press, p. 595-601

Research output: Chapter in Book / Report / Conference proceedingChapterAcademic

2012

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter

Schiffmann, R., Fogli, A., van der Knaap, M. S. & Boespflug-Tanguy, O., 2012, GeneReviews™ at GeneTests: Medical Genetics information Resource. Pagon, R. A., Bird, T. D., Dolan, C. R., Stephens, K. & Adam, M. P. (eds.). Seattle, WA: University of Washington, 18 p.

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

Leukoencephalopathies
Eukaryotic Initiation Factor-2B
Ataxia
Age of Onset
Central Nervous System
2011

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].. Pagon, R. A., Bird, T. D., Dolan, C. R. & Stephens, K. (eds.). Seattle (WA): University of Washington

Research output: Chapter in Book / Report / Conference proceedingChapterAcademic

2010

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). Scriver, C. (ed.). New York: McGraw-Hill, p. chapter-235.1 (Neurogenetics; no. Part 28).

Research output: Chapter in Book / Report / Conference proceedingChapterAcademic

2005

Inherited metabolic defects in pentose and polyol metabolism

Verhoeven, N. M., Huck, J. H. J., Struys, E. A., Salomons, G. S., van der Knaap, M. S. & Jakobs, C. A. J. M., 2005, Unknown. Heilbronn, Germany: SPS-Verlaggesellschaft, p. 114-121

Research output: Chapter in Book / Report / Conference proceedingChapterAcademic

1999

Unsupported walking and periventricular leukomalacia: locomotor characteristics and brain imaging (MRI)

Ledebt, A., Savelsbergh, G. J. P., Sie, L. T. L. & van der Knaap, M. S., 1999, From Basic Motor Control to Functional Recovery. Gantchev, N. & Gantchev, G. N. (eds.). Sofia, Bulgaria: Academic Publishing House 'Prof. M. Drinov', p. 500-505 509 p.

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

1997

Hyperorgininemia: a treatable inborn error of metabolism

de Deyn, P. P., Marescau, B., Qureshi, I. A., Cederbaum, S. D., Lambert, M., Cerone, R., Chamoles, N., Spécola, N., Leonard, J. V., Gatti, R., Green, U., Kang, S. S., Mituzani, N., Rezvani, I., Snyderman, S. E., Terheggen, H. G., Yoshino, M., Appel, B., Martin, J. J., Roth, U. & 11 othersBeaudet, A. L., Vilarinho, L., Hirschi, E., Jakobs, C. A. J. M., van der Knaap, M. S., Naito, H., Pickut, B. A., Shapira, S. K., Fuchshuber, A., Roth, B. & Hylan, K., 1997, Guanidino Compounds in Biology and Medicine. de Deyn, P. P., Marescau, B., Qureshi, I. A. & Mori, A. (eds.). London UK: John Libbey Company Ltd., p. 53-69

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

Macrocephalie

van der Knaap, M. S., 1997, Cursusboek A Kinderhoofdjes@. p. 14-21

Research output: Chapter in Book / Report / Conference proceedingChapterProfessional

MRI in white matter disorders

Valk, J. & van der Knaap, M. S., 1997, Textbook of Radiology. Magnetic Resonance in Medicine. Multimedia Virtual Textbook. Pazariello, R. & Pavone, P. (eds.). Medic On-Line (on Internet)

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

MR imaging in the classification of congenital muscular dystrophies with brain abnormalities

van der Knaap, M. S., Valk, J. & Smit, L. M. E., 1997, Proceedings of the 35th Annual Meeting of the American Society of Neuroradiology. p. 191-192

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

Spierfalen en hersenfunktiestoornissen

van der Knaap, M. S., 1997, Cursusboek, Boerhaave Cursus " Falende spierfunktie bij kinderen". p. 83-90

Research output: Chapter in Book / Report / Conference proceedingChapterProfessional

Spierfalen en hersenfunktiestoornissen

van der Knaap, M. S., 1997, Cursusboek, Boerhaave Cursus "Falende spierfunktie bij kinderen". p. 83-90

Research output: Chapter in Book / Report / Conference proceedingChapterProfessional

The significance of MRI in myelin disorders.

Valk, J. & van der Knaap, M. S., 1997, Syllabus "central nervous system II", Erasmus Course on Magnetic Resonance Imaging. p. 83-93

Research output: Chapter in Book / Report / Conference proceedingChapterProfessional