Hilde H. Braakman

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 33 publications

288th ENMC International Workshop. Towards better diagnosing, understanding and treating gastrointestinal symptoms in myotonic dystrophy: extended insights and practical recommendations. 16-18 May 2025, Hoofddorp, the Netherlands.

288th ENMC International Workshop. Towards better diagnosing, understanding and treating gastrointestinal symptoms in myotonic dystrophy: extended insights and practical recommendations. 16-18 May 2025, Hoofddorp, the Netherlands.

Journal: Neuromuscular disorders : NMD

Published: September 28, 2025

The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1.

The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1.

Journal: Orphanet journal of rare diseases

Published: April 08, 2025

Assessment of psychosocial adjustment and reduced initiative in children with myotonic dystrophy type 1: a pilot study on the reliability and clinical utility of a short parent-report questionnaire.

Assessment of psychosocial adjustment and reduced initiative in children with myotonic dystrophy type 1: a pilot study on the reliability and clinical utility of a short parent-report questionnaire.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: November 02, 2024

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

Journal: Brain communications

Published: May 01, 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

Journal: American journal of medical genetics. Part A

Published: April 15, 2024

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Journal: Annals of neurology

Published: March 09, 2024

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

Impact of gastrointestinal and urological symptoms in children with myotonic dystrophy type 1.

Impact of gastrointestinal and urological symptoms in children with myotonic dystrophy type 1.

Journal: Neuromuscular disorders : NMD

Published: July 04, 2023

Recognising symptoms of congenital myasthenic syndromes in children: A guide for paediatricians.

Recognising symptoms of congenital myasthenic syndromes in children: A guide for paediatricians.

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: April 11, 2023

Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders.

Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders.

Journal: European journal of pediatrics

Published: March 20, 2023

Pediatric acute flaccid myelitis: Evaluation of diagnostic criteria and differentiation from other causes of acute flaccid paralysis.

Pediatric acute flaccid myelitis: Evaluation of diagnostic criteria and differentiation from other causes of acute flaccid paralysis.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: February 09, 2023

Showing 1-12 of 33

Last Updated: 09/26/2026