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1

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

2

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

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

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

6

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

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

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

Marjo S. van der Knaap, Peter A. J. Leegwater, Andrea A.M. Könst, Allerdien Visser, Sakkubai Naidu, Cees B.M. Oudejans, Ruud B.H. Schutgens, Jan C. Pronk

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 977 KB

english, 2002

17

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

Marjo S. Van Der Knaap, Patrick Van Der Voorn, Frederik Barkhof, Rudy Van Coster, Ingeborg Krägeloh-Mann, Annette Feigenbaum, Susan Blaser, Johan S. H. Vles, Peter Rieckmann, Petra J. W. Pouwels

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 1.25 MB

english, 2003

18

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

19

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

20

Fright is a provoking factor in vanishing white matter disease

Gerre Vermeulen, Rainer Seidl, Saadet Mercimek-Mahmutoglu, Jan J. Rotteveel, Gert C. Scheper, Marjo S. van der Knaap

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 157 KB

english, 2005

21

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1

Marjo S. van der Knaap, Leo M. E. Smit, Frederik Barkhof, Yolande A. L. Pijnenburg, Sonja Zweegman, Hans W. M. Niessen, Saskia Imhof, Peter Heutink

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 530 KB

english, 2006

22

Non-eIF2B–related cystic leukoencephalopathy of unknown origin

Marjo S. van der Knaap, Gert C. Scheper

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 42 KB

english, 2006

23

Microphthalmia and brain atrophy: A novel neurodegenerative disease

Øivind J. Kanavin, Monika Haakonsen, Andrès Server, Tariq J. Bajwa, Marjo S. van der Knaap, Petter Strømme

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 227 KB

english, 2006

24

Positive genetic analysis provides the ultimate diagnostic confirmation

Marjo S. van der Knaap, Gert C. Scheper

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 51 KB

english, 2006

25

Hypomyelination versus delayed myelination

Marjo S. van der Knaap, Nicole I. Wolf

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

26

Megalencephalic leukoencephalopathy with cysts without MLC1 defect

Marjo S. van der Knaap, Vincent Lai, Wolfgang Köhler, Mustafa A. Salih, Maria-José Fonseca, Tim A. Benke, Callum Wilson, Parul Jayakar, Marjo-riitta Aine, Lina Dom, Bryan Lynch, Rozalia Kálmánchey, Pe

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 155 KB

english, 2010

27

1H and 31P magnetic resonance spectroscopy of the brain in degenerative cerebral disorders

Dr Marjo S. van der Knaap, Jeroen van der Grond, Peter R. Luyten, Jan A. Den Hollander, Jos J. P. Nauta, Jaap Valk

Journal:

Annals of Neurology

Year:

1992

Language:

english

File:

PDF, 1.49 MB

english, 1992

28

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1

P. K. Ilja Boor, Koen de Groot, Vlatka Mejaski-Bosnjak, Christiana Brenner, Marjo S. van der Knaap, Gert C. Scheper, Jan C. Pronk

Journal:

Year:

2006

Language:

english

File:

PDF, 301 KB

english, 2006

29

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations

W. Edward Visser, Jurgen Jansen, Edith C.H. Friesema, Monique H.A. Kester, Edna Mancilla, Johan Lundgren, Marjo S. van der Knaap, Roelineke J. Lunsing, Oebele F. Brouwer, Theo J. Visser

Journal:

Year:

2009

Language:

english

File:

PDF, 416 KB

english, 2009

30

Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes

Rui Liu, Hannemieke D.W. van der Lei, Xuemin Wang, Noel C. Wortham, Hua Tang, Carola G.M. van Berkel, Tsitsi Arikana Mufunde, Weida Huang, Marjo S. van der Knaap, Gert C. Scheper, Christopher G. Proud

Journal:

Year:

2011

Language:

english

File:

PDF, 359 KB

english, 2011

31

Vanishing white matter disease: A review with focus on its genetics

Jan C. Pronk, Barbara van Kollenburg, Gert C. Scheper, Marjo S. van der Knaap

Journal:

Development Diabilities Research Reviews

Year:

2006

Language:

english

File:

PDF, 468 KB

english, 2006

32

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

33

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

34

Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC–MS/MS: application to two new inherited defects of metabolism

Mirjam M.C. Wamelink, Eduard A. Struys, Jojanneke H.J. Huck, Birthe Roos, Marjo S. van der Knaap, Cornelis Jakobs, Nanda M. Verhoeven

Journal:

Journal of Chromatography B

Year:

2005

Language:

english

File:

PDF, 205 KB

english, 2005

35

MRI analysis using the pattern recognition program of white-matter disease in children with leukoencephalopathy with swelling

Marjo van der Knaap

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1996

Language:

english

File:

PDF, 355 KB

english, 1996

36

Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter

J. Patrick van der Voorn, Petra J. W. Pouwels, Gajja S. Salomons, Frederik Barkhof, Marjo S. van der Knaap

Journal:

Year:

2009

Language:

english

File:

PDF, 223 KB

english, 2009

37

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

38

Late onset Alexander’s disease presenting as cerebellar ataxia associated with a novel mutation in theGFAPgene

Stephan Schmidt, Mike P. Wattjes, Wanda M. Gerding, Marjo van der Knaap

Journal:

Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 243 KB

english, 2011

39

Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication

Michael M. Dos Santos, Caspar Grond-Ginsbach, Suna Su Aksay, Bowang Chen, Sandrine Tchatchou, Nicole I. Wolf, Marjo S. van der Knaap, Armin J. Grau

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 238 KB

english, 2012

40

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

41

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Ofir T. Betsalel, Jiddeke M. van de Kamp, Cristina Martínez-Muñoz, Efraim H. Rosenberg, Arjan P. M. de Brouwer, Petra J. W. Pouwels, Marjo S. van der Knaap, Grazia M. S. Mancini, Cornelis Jakobs, Ben

Journal:

Year:

2008

Language:

english

File:

PDF, 461 KB

english, 2008

42

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

43

Magnetic resonance in childhood white-matter disorders: The 2001 Ronnie Mac Keith Lecture

Marjo S VAN DER Knaap

Journal:

Developmental Medicine & Child Neurology

Year:

2001

Language:

english

File:

PDF, 100 KB

english, 2001

44

X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode

GEETHA ANAND, NITIN MAHESHWARI, DAVID ROBERTS, ANURUDDHA PADENIYA, MICHELE HAMILTON-AYERS, MARJO VAN DER KNAAP, CARL FRATTER, SANDEEP JAYAWANT

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 336 KB

english, 2010

45

Alexander disease with periventricular calcification: a novel mutation of the GFAP gene

ROSALIND J JEFFERSON, MICHAEL ABSOUD, RAKESH JAIN, JOHN H LIVINGSTON, MARJO S VAN DER KNAAP, SANDEEP JAYAWANT

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 388 KB

english, 2010

46

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

47

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Hana Antonicka, Elsebet Østergaard, Florin Sasarman, Woranontee Weraarpachai, Flemming Wibrand, Anne Marie B. Pedersen, Richard J. Rodenburg, Marjo S. van der Knaap, Jan A.M. Smeitink, Zofia M. Chrzan

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.01 MB

english, 2010

48

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient

Hanna Mierzewska, Marjo S. van der Knaap, Gert C. Scheper, Monika Bekiesinska-Figatowska, Elzbieta Szczepanik, Elzbieta Jurkiewicz

Journal:

Brain and Development

Year:

2011

Language:

english

File:

PDF, 574 KB

english, 2011

49

Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel

Stanley H. Korman, Cornelis Jakobs, Patricia S. Darmin, Alisa Gutman, Marjo S. van der Knaap, Ziva Ben-Neriah, Imad Dweikat, Isaiah D. Wexler, Gajja S. Salomons

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 356 KB

english, 2007

50

Alexander disease: Early presence of cerebral MRI criteria

Claudia B. Poloni, Solène Ferey, Charles-Antoine Haenggeli, Jacqueline Delavelle, Armand Bottani, Gajja S. Salomons, Marjo S. Van Der Knaap, Christian M. Korff

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 279 KB

english, 2009

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