Van Der Knaap, Marjo S.: search on Z-Library

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1

Diagnosis, prognosis, and treatment of leukodystrophies

van der Knaap, Marjo S, Schiffmann, Raphael, Mochel, Fanny, Wolf, Nicole I

Journal:

The Lancet Neurology

Year:

2019

Language:

english

File:

PDF, 2.62 MB

english, 2019

2

Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

Kapferer-Seebacher, Ines, Waisfisz, Quinten, Boesch, Sylvia, Bronk, Marieke, van Tintelen, Peter, Gizewski, Elke R., Groebner, Rebekka, Zschocke, Johannes, van der Knaap, Marjo S.

Journal:

Year:

2018

Language:

english

File:

PDF, 3.77 MB

english, 2018

3

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1deficiency): clinical course and effects of citrate treatment

Mühlhausen, Chris, Salomons, Gajja S., Lukacs, Zoltan, Struys, Eduard A., van der Knaap, Marjo S., Ullrich, Kurt, Santer, René

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 887 KB

english, 2014

4

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

Ortega-Recalde, Oscar, Fonseca, Dora Janeth, Patiño, Liliana Catherine, Atuesta, Juan Jaime, Rivera-Nieto, Carolina, Restrepo, Carlos Martín, Mateus, Heidi Eliana, van der Knaap, Marjo S., Laissue, Pa

Journal:

Year:

2013

Language:

english

File:

PDF, 816 KB

english, 2013

5

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot

Simons, Cas, Dyment, David, van der Knaap, Marjo S, Wolf, Nicole I

Journal:

Year:

2018

Language:

english

File:

PDF, 142 KB

english, 2018

6

LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy

Kevelam, Sietske H., van Engelen, Baziel G.M., van Berkel, Carola G.M., Küsters, Benno, van der Knaap, Marjo S.

Journal:

Year:

2014

Language:

english

File:

PDF, 151 KB

english, 2014

7

Pattern of White Matter Abnormalities at MR Imaging: Use of Polymerase Chain Reaction Testing of Guthrie Cards to Link Pattern with Congenital Cytomegalovirus Infection1

van der Knaap, Marjo S., Vermeulen, Gerre, Barkhof, Frederik, Hart, Augustinus A. M., Loeber, J. Gerard, Weel, Jan F. L.

Journal:

Year:

2004

Language:

english

File:

PDF, 489 KB

english, 2004

8

A brother and sister with intellectual disability and characteristic neuroimaging findings

Hermens, Marjolein, van der Knaap, Marjo S., Kamsteeg, Erik-Jan, Willemsen, Michèl A.

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 710 KB

english, 2018

9

Ubiquitous L1 Mosaicism in Hippocampal Neurons

Upton, Kyle R., Gerhardt, Daniel J., Jesuadian, J. Samuel, Richardson, Sandra R., Sánchez-Luque, Francisco J., Bodea, Gabriela O., Ewing, Adam D., Salvador-Palomeque, Carmen, van der Knaap, Marjo S.,

Journal:

Year:

2015

Language:

english

File:

PDF, 3.68 MB

english, 2015

10

Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy

Gutierrez, Mariana, Thiffault, Isabelle, Guerrero, Kether, Martos-Moreno, Gabriel Á., Tran, Luan T., Benko, William, van der Knaap, Marjo S., van Spaendonk, Rosalina M. L., Wolf, Nicole I., Bernard, G

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.25 MB

english, 2015

11

4H Leukodystrophy: Lessons from 3T Imaging

Cayami, Ferdy, Bugiani, Marianna, Pouwels, Petra, Bernard, Geneviève, van der Knaap, Marjo, Wolf, Nicole

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 382 KB

english, 2017

12

Translation matters: protein synthesis defects in inherited disease

Scheper, Gert C., van der Knaap, Marjo S., Proud, Christopher G.

Journal:

Nature Reviews Genetics

Year:

2007

Language:

english

File:

PDF, 846 KB

english, 2007

13

A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy?

Broere, Daniel, van Gemert, Wim G., Kneepkens, C. M. Frank, Neele, Diana M., Manoliu, Radu A., Rauwerda, Jan A., van der Knaap, Marjo S.

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 91 KB

english, 2000

14

Reply to: The many faces of TUBB4A mutations

Blumkin, Lubov, Halevy, Ayelet, Ben-Ami-Raichman, Dominique, Dahari, Dvir, Haviv, Ami, Sarit, Cohen, Lev, Dorit, van der Knaap, Marjo S., Lerman-Sagie, Tally, Leshinsky-Silver, Esther

Journal:

Year:

2014

Language:

english

File:

PDF, 55 KB

english, 2014

15

Cerebrotendinous Xanthomatosis: The Spectrum of Imaging Findings and the Correlation with Neuropathologic Findings1

Barkhof, Frederik, Verrips, Aad, Wesseling, Pieter, van der Knaap, Marjo S., van Engelen, Baziel G. M., Gabreëls, Fons J. M., Keyser, Antoine, Wevers, Ron A., Valk, Jaap

Journal:

Year:

2000

Language:

english

File:

PDF, 1.38 MB

english, 2000

16

Disease specific therapies in leukodystrophies and leukoencephalopathies

Helman, Guy, Van Haren, Keith, Bonkowsky, Joshua L., Bernard, Genevieve, Pizzino, Amy, Braverman, Nancy, Suhr, Dean, Patterson, Marc C., Ali Fatemi, S., Leonard, Jeff, van der Knaap, Marjo S., Back, S

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 444 KB

english, 2015

17

Magnetic Resonance of Myelination and Myelin Disorders || Maple Syrup Urine Disease

van der Knaap, Marjo S., Valk, Jaap

Year:

2005

Language:

english

File:

PDF, 2.83 MB

english, 2005

18

The latest on leukodystrophies

Schiffmann, Raphael, van der Knaap, Marjo S

Journal:

Current Opinion in Neurology

Year:

2004

Language:

english

File:

PDF, 100 KB

english, 2004

19

Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism

Jojanneke H.J Huck, Birthe Roos, Cornelis Jakobs, Marjo S van der Knaap, Nanda M Verhoeven

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 322 KB

english, 2004

20

Erratum to: Expansion of the spectrum of TUBB4A-related disorders: A new phenotype associated with a novel mutation in theTUBB4Agene

Blumkin, Lubov, Halevy, Ayelet, Ben-Ami-Raichman, Dominique, Dahari, Dvir, Haviv, Ami, Sarit, Cohen, Lev, Dorit, van der Knaap, Marjo S., Lerman-Sagie, Tally, Leshinsky-Silver, Esther

Journal:

Year:

2014

Language:

english

File:

PDF, 51 KB

english, 2014

21

Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy

Naik, Neeta, Shah, Ami, Wamelink, Mirjam M.C., van der Knaap, Marjo S., Hingwala, Divyata

Journal:

Year:

2017

Language:

english

File:

PDF, 267 KB

english, 2017

22

Genetic defects disrupting glial ion and water homeostasis in the brain

Min, Rogier, van der Knaap, Marjo S.

Journal:

Brain Pathology

Year:

2018

Language:

english

File:

PDF, 898 KB

english, 2018

23

Intrathecal baclofen in metachromatic leukodystrophy

Van Der Veldt, Nikki, Van Rappard, Diane F, Van De Pol, Laura A, Van Der Knaap, Marjo S, Van Ouwerkerk, Willem JR, Becher, Jules G, Wolf, Nicole I, Buizer, Annemieke I

Journal:

Developmental Medicine & Child Neurology

Year:

2018

Language:

english

File:

PDF, 179 KB

english, 2018

24

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly

Siddharth Shah, Yadlapalli Kumar, Brendan McLean, Amanda Churchill, Neil Stoodley, Julia Rankin, Patrizia Rizzu, Marjo van der Knaap, Philip Jardine

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 1.22 MB

english, 2010

25

Correction to: Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

van der Pol, Rachel J., Benninga, Marc A., MagrÃ©, Jocelyne, Van Maldergem, Lionel, Rotteveel, Joost, van der Knaap, Marjo S., de Meij, Tim G.

Journal:

European Journal of Pediatrics

Year:

2020

File:

PDF, 280 KB

2020

26

In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism

Sytske H. Moolenaar, Marjo S. van der Knaap, Udo F. H. Engelke, Petra J. W. Pouwels, Fokje S. M. Janssen-Zijlstra, Nanda M. Verhoeven, Cornelis Jakobs, Ron A. Wevers

Journal:

NMR in Biomedicine

Year:

2001

Language:

english

File:

PDF, 173 KB

english, 2001

27

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

Jiddeke M. van de Kamp, Petra J. W. Pouwels, Femke K. Aarsen, Leontine W. ten Hoopen, Dirk L. Knol, Johannes B. de Klerk, Ireneus F. de Coo, Jan G. M. Huijmans, Cornelis Jakobs, Marjo S. van der Knaap

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 329 KB

english, 2012

28

Splice site, frameshift, and chimeric GFAP mutations in Alexander disease

Daniel Flint, Rong Li, Lital S. Webster, Sakkubai Naidu, Edwin Kolodny, Alan Percy, Marjo van der Knaap, James M. Powers, John F. Mantovani, Josef Ekstein, James E. Goldman, Albee Messing, Michael Bre

Journal:

Year:

2012

Language:

english

File:

PDF, 382 KB

english, 2012

29

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients

Barbara van Kollenburg, Adri A.M. Thomas, Gerre Vermeulen, Gesina A.M. Bertrand, Carola G.M. van Berkel, Jan C. Pronk, Christopher G. Proud, Marjo S. van der Knaap, Gert C. Scheper

Journal:

Neurobiology of Disease

Year:

2006

Language:

english

File:

PDF, 596 KB

english, 2006

30

Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome

Narumi, Yoko, Shiihara, Takashi, Yoshihashi, Hiroshi, Sakazume, Satoru, van der Knaap, Marjo S., Nishimura-Tadaki, Akira, Matsumoto, Naomichi, Fukushima, Yoshimitsu

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 78 KB

english, 2011

31

Restricted Diffusion in Vanishing White Matter

van der Lei, Hannemieke D. W., Steenweg, Marjan E., Bugiani, Marianna, Pouwels, Petra J. W., Vent, Inge M., Barkhof, Frederik, van Wieringen, Wessel N., van der Knaap, Marjo S.

Journal:

Archives of Neurology

Year:

2012

Language:

english

File:

PDF, 356 KB

english, 2012

32

Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways

van Berge, Laura, Kevenaar, Josta, Polder, Emiel, Gaudry, Agnès, Florentz, Catherine, Sissler, Marie, van der Knaap, Marjo S., Scheper, Gert C.

Journal:

Biochemical Journal

Year:

2013

Language:

english

File:

PDF, 456 KB

english, 2013

33

Author response: Acute intermittent porphyria-related leukoencephalopathy

van der Knaap, Marjo S., Kevelam, Sietske H.

Journal:

Year:

2017

Language:

english

File:

PDF, 320 KB

english, 2017

34

D-2-hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses

Nigel F. Clarke, Ian Andrews, Kevin Carpenter, Cornelis Jakobs, Marjo S. van der Knaap, Edwin P. Kirk

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 137 KB

english, 2003

35

Analysis of CLCN2 as Candidate Gene for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Scheper, Gert C., van Berkel, Carola G.M., Leisle, Lilia, de Groot, Koen E., Errami, Ab, Jentsch, Thomas J., Van der Knaap, Marjo S.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 164 KB

english, 2010

36

Magnetic Resonance of Myelin, Myelination, and Myelin Disorders || Magnetic Resonance Spectroscopy, Basic Principles, and Application in Myelin Disorders

Valk, Jacob, van der Knaap, Marjo S.

Year:

1989

Language:

english

File:

PDF, 1.10 MB

english, 1989

37

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

van der Pol, Rachel J., Benninga, Marc A., Magré, Jocelyne, Van Maldergem, Lionel, Rotteveel, Joost, van der Knaap, Marjo S., de Meij, Tim G.

Journal:

European Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 878 KB

english, 2015

38

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

Vrij-van den Bos, Suzanne, Hol, Janna, La Piana, Roberta, Harting, Inga, Vanderver, Adeline, Barkhof, Frederik, Cayami, Ferdy, van Wieringen, Wessel, Pouwels, Petra, van der Knaap, Marjo, Bernard, Gen

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 372 KB

english, 2017

39

Axonal abnormalities in vanishing white matter

Klok, Melanie D., Bugiani, Marianna, de Vries, Sharon I., Gerritsen, Wouter, Breur, Marjolein, van der Sluis, Sophie, Heine, Vivi M., Kole, Maarten H. P., Baron, Wia, van der Knaap, Marjo S.

Journal:

Annals of Clinical and Translational Neurology

Year:

2018

Language:

english

File:

PDF, 4.41 MB

english, 2018

40

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect

Marjo S. Van Der Knaap, Nanda M. Verhoeven, Petra Maaswinkel-Mooij, Petra J. W. Pouwels, Wim Onkenhout, Els A. J. Peeters, Sylvia Stöckler-Ipsiroglu, Cornelius Jakobs

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 7.47 MB

english, 2000

41

Unusual variants of Alexander's disease

Marjo S. van der Knaap, Gajja S. Salomons, Rong Li, Emilio Franzoni, Luiz González Gutiérrez-Solana, Leo M. E. Smit, Richard Robinson, Collin D. Ferrie, Bruce Cree, Alyssa Reddy, Neil Thomas, Brenda B

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 1.42 MB

english, 2005

42

Adult-onset leukoencephalopathy with vanishing white matter presenting with dementia

Konstantin Prass, Wolfgang Brück, Nicolas W. J. Schröder, Andreas Bender, Maria Prass, Tilo Wolf, Marjo S. Van Der Knaap, Rolf Zschenderlein

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 12.19 MB

english, 2001

43

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Meuwissen, Marije E. C., Halley, Dicky J. J., Smit, Liesbeth S., Lequin, Maarten H., Cobben, Jan M., de Coo, René, van Harssel, Jeske, Sallevelt, Suzanne, Woldringh, Gwendolyn, van der Knaap, Marjo S.

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 2.11 MB

english, 2015

44

Childhood Lymphomatoid Granulomatosis

Tacke, Zwanique C. A., Eikelenboom, M. Judith, Vermeulen, R. Jeroen, van der Knaap, Marjo S., Euser, Anne M., van der Valk, Paul, Kaspers, Gertjan J. L.

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2014

Language:

english

File:

PDF, 280 KB

english, 2014

45

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

van der Knaap, Marjo S., Bugiani, Marianna, Mendes, Marisa I., Riley, Lisa G., Smith, Desiree E.C., Rudinger-Thirion, Joëlle, Frugier, Magali, Breur, Marjolein, Crawford, Joanna, van Gaalen, Judith, S

Journal:

Year:

2019

Language:

english

File:

PDF, 1.50 MB

english, 2019

46

Analysis of phospholipids in brain tissue by 31P NMR at different compositions of the solvent system chloroform-methanol- water

Hommo T. Edzes, Tom Teerlink, Marjo S. Van Der Knaap, Jaap Valk

Journal:

Magnetic Resonance in Medicine

Year:

1992

Language:

english

File:

PDF, 818 KB

english, 1992

47

The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction

J.Patrick van der Voorn, Wout Kamphorst, MarjoS. van der Knaap, JamesM. Powers

Journal:

Acta Neuropathologica

Year:

2004

Language:

english

File:

PDF, 784 KB

english, 2004

48

Propensity for paternal inheritance of de novo mutations in Alexander disease

Rong Li, Anne B. Johnson, Gajja S. Salomons, Marjo S. van der Knaap, Diana Rodriguez, Odile Boespflug-Tanguy, J. Rafael Gorospe, James E. Goldman, Albee Messing, Michael Brenner

Journal:

Year:

2006

Language:

english

File:

PDF, 299 KB

english, 2006

49

Walking and periventricular leukomalacia: Locomotor characteristics and brain imaging (MRI)

Annick Ledebt, Geert J.P. Savelsbergh, Lilian T.L. Sie, Marjo S. van der Knaap

Journal:

Infant Behavior and Development

Year:

2008

Language:

english

File:

PDF, 813 KB

english, 2008

50

GLUT1 Deficiency With Delayed Myelination Responding to Ketogenic Diet

Jörg Klepper, Volkher Engelbrecht, Hans Scheffer, Marjo S. van der Knaap, Andreas Fiedler

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 416 KB

english, 2007

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