Suzanne M. Koudijs

Rotterdam, ZH 3000CB, Netherlands

Last Updated: 09/26/2026

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Found 14 publications

Prevalence of epilepsy and structural brain anomalies in spina bifida aperta.

Prevalence of epilepsy and structural brain anomalies in spina bifida aperta.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: December 16, 2025

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma.

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: May 11, 2025

Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children.

Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children.

Journal: Neurology
Published: February 19, 2024

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: April 21, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Journal: Science advances
Published: March 10, 2023

Early MRI diagnosis of Sturge Weber Syndrome type 1 in infants.

Early MRI diagnosis of Sturge Weber Syndrome type 1 in infants.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: May 05, 2021

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 09, 2020

Unidentified Neuronal Surface IgG Autoantibodies in a Case of Hashimoto's Encephalopathy.

Unidentified Neuronal Surface IgG Autoantibodies in a Case of Hashimoto's Encephalopathy.

Journal: Frontiers in immunology
Published: January 16, 2020

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Journal: Human mutation
Published: February 09, 2019

Improved seizure control and regaining cognitive milestones after vagus nerve stimulation revision surgery in Lennox-Gastaut syndrome.

Improved seizure control and regaining cognitive milestones after vagus nerve stimulation revision surgery in Lennox-Gastaut syndrome.

Journal: Epilepsy & behavior case reports
Published: May 17, 2018

Functional electrical stimulation of the ankle dorsiflexors during walking in spastic cerebral palsy: a systematic review.

Functional electrical stimulation of the ankle dorsiflexors during walking in spastic cerebral palsy: a systematic review.

Journal: Developmental medicine and child neurology
Published: April 26, 2017

Childhood angular kyphosis: a plea for involvement of the pediatric neurosurgeon.

Childhood angular kyphosis: a plea for involvement of the pediatric neurosurgeon.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: January 22, 2017
Showing 1-12 of 14

Last Updated: 09/26/2026