Laurence Desmyter

Brussels, BRU, Belgium

Last Updated: 09/26/2026

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Found 14 publications

Erratum: The G2019S Mutation of Leucine-Rich Repeat Kinase 2 is a Cause of Lewy Body Dementia in Patients with North African Ancestors.

Erratum: The G2019S Mutation of Leucine-Rich Repeat Kinase 2 is a Cause of Lewy Body Dementia in Patients with North African Ancestors.

Journal: Alzheimer disease and associated disorders
Published: August 20, 2025

Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders.

Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders.

Journal: European journal of medical genetics
Published: February 06, 2025

G2019S Mutation of Leucine-Rich Repeat Kinase 2 Is a Cause of Lewy Body Dementia in Patients With North African Ancestors.

G2019S Mutation of Leucine-Rich Repeat Kinase 2 Is a Cause of Lewy Body Dementia in Patients With North African Ancestors.

Journal: Alzheimer disease and associated disorders
Published: June 03, 2024

Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.

Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.

Journal: Journal of neuromuscular diseases
Published: May 24, 2024

POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program.

POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program.

Journal: European journal of human genetics : EJHG
Published: December 16, 2023

Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs).

Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs).

Journal: Human genetics
Published: July 28, 2023

Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.

Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.

Journal: American journal of medical genetics. Part A
Published: July 13, 2021

Prevalence and clinical impact of tumor BRCA1 and BRCA2 mutations in patients presenting with localized or metastatic hormone-sensitive prostate cancer.

Prevalence and clinical impact of tumor BRCA1 and BRCA2 mutations in patients presenting with localized or metastatic hormone-sensitive prostate cancer.

Journal: Prostate cancer and prostatic diseases
Published: January 20, 2021

SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.

SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.

Journal: Neurogenetics
Published: September 28, 2020

Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation.

Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation.

Journal: Clinical genetics
Published: May 10, 2020

Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation.

Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation.

Journal: Neurology. Genetics
Published: January 07, 2020

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Journal: Human mutation
Published: July 12, 2019
Showing 1-12 of 14

Last Updated: 09/26/2026