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51

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

52

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

53

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

54

Vanishing white matter disease

Marjo S van der Knaap, Jan C Pronk, Gert C Scheper

Journal:

The Lancet Neurology

Year:

2006

Language:

english

File:

PDF, 919 KB

english, 2006

55

Childhood presentation of COL4A1 mutations

SIDDHARTH SHAH, SIAN ELLARD, RACHEL KNEEN, MING LIM, NIGEL OSBORNE, JULIA RANKIN, NEIL STOODLEY, MARJO VAN DER KNAAP, ANDREA WHITNEY, PHILIP JARDINE

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 171 KB

english, 2012

56

The ovarioleukodystrophy

Stéphane Mathis, Gert C. Scheper, Nicole Baumann, Elodie Petit, Roger Gil, Marjo S. van der Knaap, Jean-Philippe Neau

Journal:

Clinical Neurology and Neurosurgery

Year:

2008

Language:

english

File:

PDF, 231 KB

english, 2008

57

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

Hester Y. Kroes, Patrick H.A. van Zon, Dietje Fransen van de Putte, Marcel R. Nelen, Rutger-Jan Nievelstein, Dienke Wittebol-Post, Onno van Nieuwenhuizen, Grazia M.S. Mancini, Marjo S. van der Knaap,

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 184 KB

english, 2008

58

Is hearing loss a feature of Joubert syndrome, a ciliopathy?

Hester Y. Kroes, Bert G.A. Van Zanten, Sander A. De Ru, Maartje Boon, Grazia M.S. Mancini, Marjo S. Van der Knaap, Bwee Tien Poll-The, Dick Lindhout

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2010

Language:

english

File:

PDF, 334 KB

english, 2010

59

Defective translation initiation causes vanishing of cerebral white matter

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

Journal:

Trends in Molecular Medicine

Year:

2006

Language:

english

File:

PDF, 682 KB

english, 2006

60

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

61

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

62

Not all cystic leukoencephalopathies are “vanishing white matter”

Marjo S. van der Knaap, Gert C. Scheper

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 103 KB

english, 2011

63

The Gene for Leukoencephalopathy with Vanishing White Matter Is Located on Chromosome 3q27

Peter A.J. Leegwater, Andrea A.M. Könst, Bertus Kuyt, Lodewijk A. Sandkuijl, SakkuBai Naidu, Cees B.M. Oudejans, Ruud B.H. Schutgens, Jan C. Pronk, Marjo S. van der Knaap

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.04 MB

english, 1999

64

Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway

Nanda M. Verhoeven, Jojanneke H.J. Huck, Birthe Roos, Eduard A. Struys, Gajja S. Salomons, Adriaan C. Douwes, Marjo S. van der Knaap, Cornelis Jakobs

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 620 KB

english, 2001

65

eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs

Marjo S. van der Knaap, Carola G.M. van Berkel, Jochen Herms, Rudy van Coster, Martina Baethmann, Sakkubai Naidu, Eugen Boltshauser, Michèl A.A.P. Willemsen, Barbara Plecko, Georg F. Hoffmann, Christo

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.81 MB

english, 2003

66

Recognizable phenotypes associated with intracranial calcification

LIVINGSTON, JOHN H, STIVAROS, STAVROS, VAN DER KNAAP, MARJO S, CROW, YANICK J

Journal:

Developmental Medicine & Child Neurology

Year:

2013

Language:

english

File:

PDF, 824 KB

english, 2013

67

Late onset vanishing white matter disease presenting with learning difficulties

Joana Damásio, Hannemieke D.W. van der Lei, Marjo S. van der Knaap, Ernestina Santos

Journal:

Journal of the Neurological Sciences

Year:

2012

Language:

english

File:

PDF, 339 KB

english, 2012

68

Long-term tremor control with bilateral Vim-DBS in vanishing white matter disease

István Valálik, Marjo S. van der Knaap, Gert C. Scheper, Ákos Jobbágy, Zoltán Liptai, András Csókay

Journal:

Parkinsonism & Related Disorders

Year:

2012

Language:

english

File:

PDF, 395 KB

english, 2012

69

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

Marjo S van der Knaap, Ilja Boor, Raúl Estévez

Journal:

The Lancet Neurology

Year:

2012

Language:

english

File:

PDF, 2.93 MB

english, 2012

70

Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy

Jojanneke H.J. Huck, Nanda M. Verhoeven, Eduard A. Struys, Gajja S. Salomons, Cornelis Jakobs, Marjo S. van der Knaap

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.07 MB

english, 2004

71

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

72

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, 347 KB

english, 2014

73

An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts

Kocaman, Gulsen, Eryigit, Gozde, Abbink, Truus E.M., Kılıcarslan, Rukiye, Asil, Talip, Alkan, Alpay, Van der Knaap, Marjo S., Kocer, Abdulkadir

Journal:

Clinical Neurology and Neurosurgery

Year:

2013

Language:

english

File:

PDF, 838 KB

english, 2013

74

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

75

A homozygous mutation in theNDUFS1gene presents with a mild cavitating leukoencephalopathy

Kashani, Alireza, Thiffault, Isabelle, Dilenge, Marie-Emmanuelle, Saint-Martin, Christine, Guerrero, Kether, Tran, Luan T., Shoubridge, Eric, van der Knaap, Marjo S., Braverman, Nancy, Bernard, Genevi

Journal:

Year:

2014

Language:

english

File:

PDF, 370 KB

english, 2014

76

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

77

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

78

Mutations in RARS cause hypomyelination

Wolf, Nicole I., Salomons, Gajja S., Rodenburg, Richard J., Pouwels, Petra J. W., Schieving, Jolanda H., Derks, Terry G. J., Fock, Johanna M., Rump, Patrick, van Beek, Daphne M., van der Knaap, Marjo

Journal:

Annals of Neurology

Year:

2014

Language:

english

File:

PDF, 314 KB

english, 2014

79

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Parikh, Sumit, Bernard, Geneviève, Leventer, Richard J., van der Knaap, Marjo S., van Hove, Johan, Pizzino, Amy, McNeill, Nathan H., Helman, Guy, Simons, Cas, Schmidt, Johanna L., Rizzo, William B., P

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.13 MB

english, 2015

80

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

81

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

82

Magnetic Resonance of Myelination and Myelin Disorders || Progressive Multifocal Leukoencephalopathy

van der Knaap, Marjo S., Valk, Jaap

Year:

2005

Language:

english

File:

PDF, 1.55 MB

english, 2005

83

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

84

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

85

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

86

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

87

Patient With Unilateral White Matter Involvement Does Not Have Krabbe Disease

Van der Knaap, Marjo S.

Journal:

Archives of Neurology

Year:

2011

Language:

english

File:

PDF, 39 KB

english, 2011

88

Magnetic Resonance of Myelination and Myelin Disorders || Aicardi-Goutières Syndrome

van der Knaap, Marjo S., Valk, Jaap

Year:

2005

Language:

english

File:

PDF, 2.74 MB

english, 2005

89

Magnetic Resonance of Myelination and Myelin Disorders ||

van der Knaap, Marjo S., Valk, Jaap

Year:

2005

Language:

english

File:

PDF, 217.53 MB

english, 2005

90

Magnetic Resonance of Myelination and Myelin Disorders || Sjögren-Larsson Syndrome

van der Knaap, Marjo S., Valk, Jaap

Year:

2005

Language:

english

File:

PDF, 969 KB

english, 2005

91

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

92

Magnetic Resonance of Myelination and Myelin Disorders || Urea Cycle Defects

van der Knaap, Marjo S., Valk, Jaap

Year:

2005

Language:

english

File:

PDF, 1.80 MB

english, 2005

93

Megalencephalic Leukoencephalopathy with Subcortical Cysts: A Third Confirmed Case with Literature Review

Miles, Lili, deGrauw, Ton J., Dinopoulos, Argirios, Cecil, Kim M., van der Knaap, Marjo S., Bove, Kevin E.

Journal:

Pediatric and Developmental Pathology

Year:

2009

Language:

english

File:

PDF, 2.98 MB

english, 2009

94

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

95

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

96

Defining and Categorizing Leukoencephalopathies of Unknown Origin: MR Imaging Approach1

van der Knaap, Marjo S., Breiter, Steve N., Naidu, Sakkubai, Hart, Augustinus A. M., Valk, Jakob

Journal:

Year:

1999

Language:

english

File:

PDF, 431 KB

english, 1999

97

Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation

Hanagasi, Hasmet A., Bilgiç, Başar, Abbink, Truus E.M., Hanagasi, Figen, Tüfekçioğlu, Zeynep, Gürvit, Hakan, Başak, Nazlı, van der Knaap, Marjo S., Emre, Murat

Journal:

Parkinsonism & Related Disorders

Year:

2015

Language:

english

File:

PDF, 641 KB

english, 2015

98

Characteristics of Early MRI in Children and Adolescents with Vanishing White Matter

van der Lei, Hannemieke, Steenweg, Marjan, Barkhof, Frederik, de Grauw, Ton, d'Hooghe, Marc, Morton, Richard, Shah, Siddharth, Wolf, Nicole, van der Knaap, Marjo

Journal:

Neuropediatrics

Year:

2012

Language:

english

File:

PDF, 213 KB

english, 2012

99

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

de Bot, Susanne T, Burggraaff, Rogier C, Herkert, Johanna C, Schelhaas, Helenius J, Post, Bart, Diekstra, Adinda, van Vliet, Reinout O, van der Knaap, Marjo S, Kamsteeg, Erik-Jan, Scheffer, Hans, van

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 816 KB

english, 2013

100

A Novel GJC2 Mutation Associated with Hypomyelination and Müllerian Agenesis Syndrome: Coincidence or a New Entity?

Yalcinkaya, Cengiz, Erturk, Ozdem, Tuysuz, Beyhan, Yesil, Gozde, Verbeke, Jonathan, Keyser, Britta, Stuhrmann, Manfred, Steinemann, Doris, Sistermans, Erik, van der Knaap, Marjo

Journal:

Neuropediatrics

Year:

2012

Language:

english

File:

PDF, 142 KB

english, 2012