Annelieke R. Muller

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 17 publications

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

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

Journal: Molecular genetics and metabolism

Published: March 19, 2025

SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHology.

SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHology.

Journal: Molecular genetics and metabolism

Published: January 08, 2025

Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs.

Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 12, 2024

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

Journal: Journal of inherited metabolic disease

Published: July 10, 2024

Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?

Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?

Journal: Frontiers in medicine

Published: April 29, 2024

Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development.

Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development.

Journal: Journal of medical genetics

Published: February 26, 2024

Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.

Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.

Journal: Molecular genetics and metabolism

Published: January 02, 2024

Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.

Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.

Journal: BMC medicine

Published: October 23, 2023

Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.

Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.

Journal: Therapeutic advances in rare disease

Published: October 18, 2023

Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.

Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.

Journal: Orphanet journal of rare diseases

Published: September 13, 2023

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.

Journal: BMC psychiatry

Published: July 27, 2023

Accessibility and feasibility of experience sampling methods for mental health research with people with intellectual disability: Scoping of research and stakeholder views.

Accessibility and feasibility of experience sampling methods for mental health research with people with intellectual disability: Scoping of research and stakeholder views.

Journal: Journal of applied research in intellectual disabilities : JARID

Published: June 01, 2023

Showing 1-12 of 17

Last Updated: 09/26/2026