Publications by authors named "Levinus Bok"

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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Curtis R Coughlin, Laura A Tseng, Levinus A Bok, Hans Hartmann, Emma Footitt

Neurology· December 2022

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Destination unknown: Parents and healthcare professionals' perspectives on transition from paediatric to adult care in Down syndrome.
Vincent J T Peters, Levinus A Bok, Lieke de Beer, Joyce J M van Rooij, Bert R Meijboom

J Appl Res Intellect Disabil· September 2022

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Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
Laura A Tseng, Udo F H Engelke, Marleen C D G Huigen, Leo A J Kluijtmans, Charlotte A Haaxma, Levinus A Bok

Clin Chem· May 2022

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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Laura A Tseng, Jose E Abdenur, Ashley Andrews, Verena G Aziz, Levinus A Bok

Mol Genet Metab· April 2022

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Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.
Emma N M M von Scheibler, Emy S van der Valk Bouman, Myrthe A Nuijts, Noël J C Bauer, Tos T J M Berendschot, Levinus A Bok

Am J Med Genet A· February 2022

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DTYMK is essential for genome integrity and neuronal survival.
Jo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, Ellen Lambrichs, Erik-Jan Kamsteeg, Levinus A Bok

Acta Neuropathol· February 2022

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Effect of the Sharrard procedure on hip instability in children with Down syndrome: a retrospective study.
Frederike E C M Mulder, Levinus A Bok, Florens Q M P van Douveren, Hans E H Pruijs, Adelgunde V C M Zeegers

J Child Orthop· October 2021

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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Udo Fh Engelke, Rianne E van Outersterp, Jona Merx, Fred Amg van Geenen, Arno van Rooij, Levinus A Bok

J Clin Invest· August 2021

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Providing person-centered care for patients with complex healthcare needs: A qualitative study.
Vincent J T Peters, Bert R Meijboom, Jan Erik H Bunt, Levinus A Bok, Marianne W van Steenbergen

PLoS One· January 2021

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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Curtis R Coughlin, Laura A Tseng, Jose E Abdenur, Catherine Ashmore, François Boemer, Levinus A Bok

J Inherit Metab Dis· January 2021

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The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
Lena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Levinus Bok

J Hum Genet· November 2020

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Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.
Annemarie C S Knijnenburg, Joost Nicolai, Levinus A Bok, Akin Bay, Alexander P A Stegmann

Neurol Genet· June 2020

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Levinus A Bok

Genet Med· September 2019

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Levinus A Bok

Genet Med· June 2019

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Developmental dysplasia of the hip in children with Down syndrome: comparison of clinical and radiological examinations in a local cohort.
Anouk F M van Gijzen, Elsbeth D M Rouers, Florens Q M P van Douveren, Jeanne Dieleman, Johannes G E Hendriks, Levinus A Bok

Eur J Pediatr· April 2019

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Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy.
Gabriela Oesch, A Murat Maga, Seth D Friedman, Sandra L Poliachik, Christopher B Budech, Levinus A Bok

Neurology· July 2018

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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Levinus A Bok

J Med Genet· February 2018

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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Jonas Straub, Enrico D H Konrad, Johanna Grüner, Annick Toutain, Levinus A Bok

Am J Hum Genet· January 2018

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Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Tom S Koemans, Tjitske Kleefstra, Melissa C Chubak, Max H Stone, Margot R F Reijnders, Levinus A Bok, Hans van Bokhoven

PLoS Genet· October 2017

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encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Levinus A Bok

J Med Genet· July 2017

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haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment.
Cemre Celen, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K Walker, Levinus A Bok

Elife· July 2017

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Parry Romberg syndrome presenting with a giant intracranial aneurysm: a case report.
Ilse H de Lange, Anna Mt van Oploo, Feico Jj Halbertsma, F George Roos, Levinus A Bok

Oxf Med Case Reports· May 2017

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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Michael D Fountain, Emmelien Aten, Megan T Cho, Jane Juusola, Magdalena A Walkiewicz, Levinus A Bok

Genet Med· January 2017

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The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
Déborah Mathis, Lucia Abela, Monique Albersen, Céline Bürer, Lisa Crowther, Levinus A Bok

J Inherit Metab Dis· September 2016

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Commentary on clinical significance of CYP2C9-status-guided valproic acid therapy in children.
Rolf C W Gielgens, Levinus A Bok

Epilepsia· August 2016

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