Search Results - "Rothuizen-Lindenschot M"

Using PRPP-Assessment for measuring change in everyday activities by home-based videos: An exploratory case series study in children with multiple disabilities.

Authors: Rothuizen-Lindenschot, M.

Subjects: All institutes and research themes of the Radboud University Medical Center., Radboudumc 18: Healthcare improvement science Geriatrics., Radboudumc 18: Healthcare improvement science IQ Healthcare., Radboudumc 18: Healthcare improvement science Orthopaedics., Radboudumc 18: Healthcare improvement science Rehabilitation., Radboudumc 6: Metabolic Disorders Paediatrics.

Index Terms: Article / Letter to editor.

URL: https://doi.org/10.1111/1440-1630.12893
https://repository.ubn.ru.nl//bitstream/handle/2066/300242/300242.pdf
https://repository.ubn.ru.nl/handle/2066/300242

Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.

Authors: Hollander, B.

Subjects: All institutes and research themes of the Radboud University Medical Center., Radboudumc 0: Other Research Pharmacology-Toxicology., Radboudumc 6: Metabolic Disorders Paediatrics.

Index Terms: Article / Letter to editor.

URL: https://doi.org/10.1016/j.ymgme.2023.107523
https://repository.ubn.ru.nl/handle/2066/290912

L-serine treatment in a patient with refractory epilepsy due to a GRIN2A missense mutation.

Authors: Shin, Hui Jin Ko, Ara Kim, Se Hee et al.

Source: Acta Neurologica Belgica; Dec2024, Vol. 124 Issue 6, p2025-2028, 4p

Genetic variants in GRIN2B and NTRK2 on the etiology and treatment response to valproate and lithium in patients with bipolar disorder.

Authors: Camarena, Beatriz Sanabrais-Jiménez, Marco Antonio Sotelo-Ramírez, Carlo Esteban et al.

Source: Pharmacological Reports; Oct2025, Vol. 77 Issue 5, p1428-1439, 12p

Corrigendum to “Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation:Rationale and protocol for single patient (n-of-1) multiple cross-over trials” [Contemp. Clin. Trials Commun. 36 (2023)/ DOI:10.1016/j.conctc.2023.101233] (Contemporary Clinical Trials Communications (2023) 36, (S2451865423001795), (10.1016/j.conctc.2023.101233))

Authors: Hollander, Bibiche den Rothuizen-Lindenschot, Marieke Geertjens, Lisa et al.

Source: Hollander, B D, Rothuizen-Lindenschot, M, Geertjens, L, Vaz, F M, Brands, M M, Le, H L, van Eeghen, A M, van de Ven, P M, Cornel, M C, Jacobs, B A W, Bruining, H & van Karnebeek, C D 2024, 'Corrigendum to “Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation : Rationale and protocol for single patient (n-of-1) multiple cross-over trials” [Contemp. Clin. Trials Commun. 36 (2023)/ DOI:10.1016/j.conctc.2023.101233] (Contemporary Clinical Trials Communications (2023) 36, (S2451865423001795), (10.1016/j.conctc.2023.101233))', Contemporary Clinical Trials Communications, vol. 38, 101264. https://doi.org/10.1016/j.conctc.2024.101264

Relation: info:eu-repo/semantics/altIdentifier/pmid/38533474; info:eu-repo/semantics/altIdentifier/pissn/2451-8654

Availability: https://research.vumc.nl/en/publications/edf5a90b-d189-4491-83be-3599492ddd8b
https://doi.org/10.1016/j.conctc.2024.101264
https://www.scopus.com/pages/publications/85184756377

Whole-Genome Sequencing Reveals a Novel Pathogenic GRIN2B Variant in a Patient with Neurodevelopmental Disorder and an inv(6)(p24p11.2)pat.

Authors: Córdova-Fletes, Carlos Rivera, Horacio Domínguez-Quezada, Ma. Guadalupe et al.

Source: Cytogenetic & Genome Research; 2024, Vol. 164 Issue 2, p92-102, 11p

Subject Terms: WHOLE genome sequencing, SINGLE nucleotide polymorphisms, TRANSMEMBRANE domains, GENETIC variation, GENOMICS, EXOMES

Oral sialic acid supplementation in NANS‐CDG: Results of a single center, open‐label, observational pilot study.

Authors: den Hollander, Bibiche Brands, Marion M. de Boer, Lonneke et al.

Source: Journal of Inherited Metabolic Disease; Sep2023, Vol. 46 Issue 5, p956-971, 16p

Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials.

Authors: den Hollander B Rothuizen-Lindenschot M Le HL et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Oct 30; Vol. 146 (4), pp. 109268. Date of Electronic Publication: 2025 Oct 30.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

L-serine: Neurological Implications and Therapeutic Potential.

Authors: Phone Myint, Soe Maung Maung Sun, Liou Y.

Source: Biomedicines; Aug2023, Vol. 11 Issue 8, p2117, 11p

Subject Terms: GLYCINE receptors, NEUROLOGICAL disorders, NEURODEGENERATION, CENTRAL nervous system, ALZHEIMER'S disease

Company/Entity: UNITED States. Food & Drug Administration

Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials.

Authors: den Hollander B Rothuizen-Lindenschot M Geertjens L et al.

Source: Contemporary clinical trials communications [Contemp Clin Trials Commun] 2023 Nov 17; Vol. 36, pp. 101233. Date of Electronic Publication: 2023 Nov 17 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101671157 Publication Model: eCollection Cited Medium: Internet ISSN: 2451-8654 (Electronic) Linking ISSN: 24518654 NLM ISO Abbreviation: Contemp Clin Trials Commun Subsets: PubMed not MEDLINE

Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.

Authors: den Hollander B Veenvliet ARJ Rothuizen-Lindenschot M et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2023 Mar; Vol. 138 (3), pp. 107523. Date of Electronic Publication: 2023 Jan 21.

Publication Type: Observational Study; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

MeSH Terms: Intellectual Disability* , Neurodevelopmental Disorders*/drug therapy , Neurodevelopmental Disorders*/genetics, Female ; Humans ; Cognition ; Quality of Life ; Receptors, N-Methyl-D-Aspartate/genetics ; Serine ; Infant ; Child, Preschool