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51

Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements

Jaggumantri, Sravan, Dunbar, Mary, Edgar, Vanessa, Mignone, Cristina, Newlove, Theresa, Elango, Rajavel, Collet, Jean Paul, Sargent, Michael, Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara D.M.

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

52

FLNA genomic rearrangements cause periventricular nodular heterotopia

Clapham, K. R., Yu, T. W., Ganesh, V. S., Barry, B., Chan, Y., Mei, D., Parrini, E., Funalot, B., Dupuis, L., Nezarati, M. M., du Souich, C., van Karnebeek, C., Guerrini, R., Walsh, C. A.

Journal:

Year:

2012

Language:

english

File:

PDF, 999 KB

english, 2012

53

OP49 – 2560: PLP1 mutations affecting PLP1/DM20 alternative splicing causes hypomyelination of early myelinating structures

Kevelam, S.H., Taube, J.R., van Spaendonk, R.M.L., Bertini, E., Tarnopolsky, M., Tonduti, D., Bernard, G., Catsman-Berrevoets, C.E., van Karnebeek, C.D.M., Østergaard, J.R., Friederich, R.L., Fawzi, M

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 89 KB

english, 2015

54

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin JD, Wasserman, Wyeth W, van Karnebeek, Clara DM

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.28 MB

english, 2015

55

[JIMD Reports] || Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy

van Karnebeek, Clara

Year:

2014

Language:

english

File:

PDF, 186 KB

english, 2014

56

Costs of caring for children with an intellectual developmental disorder

Genereaux, Dallas, van Karnebeek, Clara D.M., Birch, Patricia H.

Journal:

Disability and Health Journal

Year:

2015

Language:

english

File:

PDF, 314 KB

english, 2015

57

Personalized Evaluation Model for making informed decisions in treatments for individuals with intellectual disability

Jaggumantri, Sravan, McKellin, William, Stockler, Sylvia, van Karnebeek, Clara, Collet, Jean Paul

Journal:

International Journal of Developmental Neuroscience

Year:

2015

Language:

english

File:

PDF, 60 KB

english, 2015

58

Pyridoxine-Dependent Epilepsy: an expanding clinical spectrum

van Karnebeek, Clara D.M., Tiebout, Sylvia A., Niermeijer, Jikkemien, Poll-The, Bwee Tien, Ghani, Aisha, Coughlin, Curtis R., Van Hove, Johan L.K., Richter, Jost Wigand, Christen, Hans Juergen, Gallag

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 877 KB

english, 2016

59

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Zaharieva, Irina T., Thor, Michael G., Oates, Emily C., van Karnebeek, Clara, Hendson, Glenda, Blom, Eveline, Witting, Nanna, Rasmussen, Magnhild, Gabbett, Michael T., Ravenscroft, Gianina, Sframeli,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.47 MB

english, 2016

60

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Diez-Fernandez, Carmen, Rüfenacht, Véronique, Santra, Saikat, Lund, Allan M., Santer, René, Lindner, Martin, Tangeraas, Trine, Unsinn, Caroline, de Lonlay, Pascale, Burlina, Alberto, van Karnebeek, Cl

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

61

Metabolic Diet App Suite for inborn errors of amino acid metabolism

Ho, Gloria, Ueda, Keiko, Houben, Roderick F.A., Joa, Jeff, Giezen, Alette, Cheng, Barbara, van Karnebeek, Clara D.M.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 598 KB

english, 2016

62

KCNQ2 mutations: genotype-phenotype association beyond epilepsy

Buerki, SE, Horwath, GA, Van Allen, MI, Datta, A, Boelman, C, Abu Sharar, Z, Sayson, B, Connolly, MB, van Karnebeek, CD, Demos, MK

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

63

2015 update on triple therapy for pyridoxine-dependent epilepsy

Jaggumantri, S, Coughlin, C, Stockler, S, Barb, C, Mary, C, van Hove, J, van Karnebeek, C

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2015

Language:

english

File:

PDF, 265 KB

english, 2015

64

Diagnostic Value of a Multidisciplinary Clinic for Intellectual Disability

van Karnebeek, Clara, Murphy, Tyler, Giannasi, Wynona, Thomas, Marion, Connolly, Mary, Stockler-Ipsiroglu, Sylvia

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2014

File:

PDF, 869 KB

2014

65

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine

Journal:

Nature Genetics

Year:

2016

Language:

english

File:

PDF, 2.28 MB

english, 2016

66

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

Sinclair, Graham B., van Karnebeek, Clara D.M., Ester, Manuel, Boyd, Frances, Nelson, Tanya, Stockler-Ipsiroglu, Sylvia, Vallance, Hilary

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 942 KB

english, 2016

67

GeneYenta: A PhenotypeBased Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome Interpretation

Gottlieb, Michael M., Arenillas, David J., Maithripala, Savanie, Maurer, Zachary D., TarailoGraovac, Maja, Armstrong, Linlea, Patel, Millan, van Karnebeek, Clara, Wasserman, Wyeth W.

Journal:

Year:

2015

Language:

english

File:

PDF, 384 KB

english, 2015

68

Impaired Porphyromonas gingivalis -Induced Tumor Necrosis Factor Production by Dendritic Cells Typifies Patients With Rheumatoid Arthritis

Santegoets, Kim C. M., Wenink, Mark H., Braga, Felipe A. Vieira, Cossu, Marta, Lamers-Karnebeek, Femke B. G., van Riel, Piet L. C. M., Sturm, Patrick D. J., van den Berg, Wim B., Radstake, Timothy R.

Journal:

Arthritis & Rheumatology

Year:

2016

Language:

english

File:

PDF, 438 KB

english, 2016

69

Treatment of Neurogenetic Developmental Conditions: From 2016 Into the Future

van Karnebeek, Clara D.M., Bowden, Kristin, Berry-Kravis, Elizabeth

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 1.60 MB

english, 2016

70

Episodic ataxia associated with a de novo SCN2A mutation

Leach, Emma L., van Karnebeek, Clara D.M., Townsend, Katelin N., Tarailo-Graovac, Maja, Hukin, Juliette, Gibson, William T.

Journal:

European Journal of Paediatric Neurology

Year:

2016

Language:

english

File:

PDF, 738 KB

english, 2016

71

GLUT1 deficiency: progress in unraveling its genetic basis

Van Karnebeek, Clara D M

Journal:

Developmental Medicine & Child Neurology

Year:

2016

Language:

english

File:

PDF, 51 KB

english, 2016

72

Glycaemic Profiles of Children With Overweight and Obesity in Free-living Conditions in Association With Cardiometabolic Risk

Rijks, Jesse, Karnebeek, Kylie, van Dijk, Jan-Willem, Dorenbos, Elke, Gerver, Willem-Jan, Stouthart, Pauline, Plat, Jogchum, Vreugdenhil, Anita

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 448 KB

english, 2016

73

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

Pena, Izabella Agostinho, MacKenzie, Alex, Van Karnebeek, Clara D.M.

Journal:

Expert Review of Endocrinology & Metabolism

Year:

2017

Language:

english

File:

PDF, 896 KB

english, 2017

74

The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus

Ragotte, Robert J., Dhanrajani, Anita, Pleydell-Pearce, Julian, Del Bel, Kate L., Tarailo-Graovac, Maja, van Karnebeek, Clara, Terry, Jefferson, Senger, Christof, McKinnon, Margaret L., Seear, Michael

Journal:

Clinical Immunology

Year:

2017

Language:

english

File:

PDF, 1.42 MB

english, 2017

75

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Bourne, Stephanie C., Townsend, Katelin N., Shyr, Casper, Matthews, Allison, Lear, Scott A., Attariwala, Raj, Lehman, Anna, Wasserman, Wyeth W., van Karnebeek, Clara, Sinclair, Graham, Vallance, Hilar

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 916 KB

english, 2017

76

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome

Armstrong, Linlea, Tarailo-Graovac, Maja, Sinclair, Graham, Seath, Kimberly I., Wasserman, Wyeth W., Ross, Colin J., van Karnebeek, Clara D. M.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 257 KB

english, 2017

77

Case Report

Datta, Anita, Ferguson, Alex, Simonson, Chris, Zannotto, Francesca, Michoulas, Aspasia, Roland, Elke, Karnebeek, Clara van, Salvarinova, Ramona

Journal:

Journal of Child Neurology

Year:

2017

Language:

english

File:

PDF, 826 KB

english, 2017

78

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives

Tarailo-Graovac, Maja, Wasserman, Wyeth W., Van Karnebeek, Clara D. M.

Journal:

Expert Review of Molecular Diagnostics

Year:

2017

Language:

english

File:

PDF, 586 KB

english, 2017

79

A.01 Targeted analysis of whole exome sequencing and genotype-phenotype correlation in epileptic encephalopathies

Buerki, SE, Toyota, EB, Guella, I, McKenzie, M, Evans, D, Adam, S, van Allen, MI, Boelman, C, Horvath, G, Van Karnebeek, CD, Eydoux, P, Huh, L, Datta, A, Selby, KA, Michoulas, A, Nelson, TN, Farrer, M

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2016

Language:

english

File:

PDF, 137 KB

english, 2016

80

A case of splenomegaly in CBL syndrome

Coe, Rachel R., McKinnon, Margaret L., Tarailo-Graovac, Maja, Ross, Colin J., Wasserman, Wyeth W., Friedman, Jan M., Rogers, Paul C., van Karnebeek, Clara D.M.

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 911 KB

english, 2017

81

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

Tarailo-Graovac, Maja, Zhu, Jing Yun Alice, Matthews, Allison, van Karnebeek, Clara D M, Wasserman, Wyeth W

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 355 KB

english, 2017

82

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

Lee, J. J. Y., van Karnebeek, C. D. M., Dro gemoller, B., Shyr, C., Tarailo-Graovac, M., Eydoux, P., Ross, C. J., Wasserman, W. W., Bjo rnson, B., Wu, J. K.

Journal:

Child Neurology Open

Year:

2016

Language:

english

File:

PDF, 230 KB

english, 2016

83

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine

Journal:

Nature Genetics

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

84

Limited value for ultrasonography in predicting flare in rheumatoid arthritis patients with low disease activity stopping TNF inhibitors

Lamers-Karnebeek, Femke B., Luime, Jolanda J., Ten Cate, David F., Teerenstra, Steven, Swen, Nanno W. A. A., Gerards, Andreas H., Hendrikx, Jos, van Rooyen, Emma M., Voorneman, Ramon, Haagsma, Cees, B

Journal:

Year:

2017

Language:

english

File:

PDF, 240 KB

english, 2017

85

Molecular identification in metabolomics using infrared ion spectroscopy

Martens, Jonathan, Berden, Giel, van Outersterp, Rianne E., Kluijtmans, Leo A. J., Engelke, Udo F., van Karnebeek, Clara D. M., Wevers, Ron A., Oomens, Jos

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 1.69 MB

english, 2017

86

Erfelijke stofwisselingsziekten zijn niet hopeloos

Dr. Clara D. M. van Karnebeek

Journal:

Year:

2016

Language:

dutch

File:

PDF, 499 KB

dutch, 2016

87

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

Pronicka, Ewa, Ropacka-Lesiak, Mariola, Trubicka, Joanna, Pajdowska, Magdalena, Linke, Markus, Ostergaard, Elsebet, Saunders, Carol, Horsch, Sandra, van Karnebeek, Clara, Yaplito-Lee, Joy, Distelmaier

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 450 KB

english, 2017

88

Broadening the genetic spectrum of “early-onset dementia plus”: Novel TMEM67 variants causing a Coach syndrome & Niemann Pick Type C phenocopy

Dragoumi, P., Vargiami, E., Kyriazi, M., Tarailo-Graovac, M., Ross, C.J., Wasserman, W., Wevers, R., Van Karnebeek, C., Zafeiriou, D.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 59 KB

english, 2017

89

Pyridoxine-dependent epilepsy (PDE): Diagnostic and therapeutic queries

Lunsing, R.J., van Spronsen, F.J., Bok, L.A., Struys, E.A., van Karnebeek, C.D.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 41 KB

english, 2017

90

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

Lee, Jessica J Y, Wasserman, Wyeth W, Hoffmann, Georg F, van Karnebeek, Clara D M, Blau, Nenad

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 365 KB

english, 2017

91

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

Matthews, A.M., Tarailo-Graovac, M., Price, E.M., Blydt-Hansen, I., Ghani, A., Drögemöller, B.I., Robinson, W.P., Ross, C.J., Wasserman, W.W., Siden, H., van Karnebeek, C.D.

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

92

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

Horvath, Gabriella A., Tarailo-Graovac, Maja, Bartel, Tanja, Race, Simone, Van Allen, Margot I., Blydt-Hansen, Ingrid, Ross, Colin J., Wasserman, Wyeth W., Connolly, Mary B., van Karnebeek, Clara D. M

Journal:

Journal of Child Neurology

Year:

2018

Language:

english

File:

PDF, 670 KB

english, 2018

93

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis

Lee, Jessica J. Y., Gottlieb, Michael M., Lever, Jake, Jones, Steven J. M., Blau, Nenad, van Karnebeek, Clara D. M., Wasserman, Wyeth W.

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 1.48 MB

english, 2018

94

From rodent heart to inborn errors of human metabolism

Sass, Jörn Oliver, Kalkan Uçar, Sema, van Karnebeek, Clara D.M.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 245 KB

english, 2018

95

Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre

van Karnebeek, Clara D.M., Dunbar, Mary, Egri, Csilla, Sayson, Bryan, Milea, Janetta, Stockler-Ipsiroglu, Sylvia, Huh, Linda, Connolly, Mary B., Horvath, Gabriella A.

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2018

File:

PDF, 230 KB

2018

96

GNAO1 Mutation–Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation

Honey, C. Michael, Malhotra, Armaan K., Tarailo-Graovac, Maja, van Karnebeek, Clara D. M., Horvath, Gabriella, Sulistyanto, Adi

Journal:

Journal of Child Neurology

Year:

2018

Language:

english

File:

PDF, 305 KB

english, 2018

97

MG-115 Compound heterozygous SCN4A mutation underlies severe congenital hypotonia and biophysical alteration in the encoded voltage-gated NAV1.4 sodium channel

van Karnebeek, Clara DM, Ye, X Cynthia, Abdelsayed, Mena, Selby, Katherine, Zhang, Linhua, Chijiwa, Chieko, Hendson, Glenda, Sayson, Bryan, Gill, Harinder, Balicki, Martha, Eydoux, Patrice, Ross, Coli

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 65 KB

english, 2015

98

MG-135 Metabolic diet app suite: Digital medicine to support families with inborn errors of metabolism

van Karnebeek, Clara DM, Ho, G, Houben, RFA, Joa, J, Ueda, K

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 64 KB

english, 2015

99

MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency

van Karnebeek, Clara DM, Al-Hertani, W, Jaggumantri, S, Coughlin, C, Stockler, S, Hartmann, H Hans, Van Hove, J

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

100

OP0181 Prediction of Flare after Stopping TNF-Inhibitor by Baseline Ultrasonography and Patient Characteristics in Rheumatoid Arthritis Patients with Low Disease Activity: 12-Month Results

Lamers-Karnebeek, F.B.G., Luime, J., van Riel, P., Jacobs, J., Jansen, T.

Journal:

Annals of the Rheumatic Diseases

Year:

2016

Language:

english

File:

PDF, 76 KB

english, 2016