Eric Legius
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View article: Reply to Taal et al. Comment on “Iasella et al. Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour. Cancers 2025, 17, 1306”
Reply to Taal et al. Comment on “Iasella et al. Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour. Cancers 2025, 17, 1306” Open
We would like to sincerely thank Dr [...]
View article: Emerging insights into mosaic errors of immunity
Emerging insights into mosaic errors of immunity Open
Mosaic errors of immunity (MEI) encompass a group of immune disorders caused by somatic or gonosomal gene variants affecting hematopoiesis and immune function. Although the causal role of mosaicism in monogenic immune disorders has been re…
View article: Pigmentary Mosaicism: An Overview
Pigmentary Mosaicism: An Overview Open
Mosaicism refers to an individual who developed from a single fertilised egg but has two or more populations of cells with a different genotype as a result of a postzygotic mutation. Pigmentary mosaicism is reflected by a patterned hypo‐, …
View article: Neonatal Epidermolytic Ichthyosis Caused by a <scp>KRT10</scp> Mutation (c.467G>A, p.Arg156His): A Case Report
Neonatal Epidermolytic Ichthyosis Caused by a <span>KRT10</span> Mutation (c.467G>A, p.Arg156His): A Case Report Open
We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic varian…
View article: Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour
Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour Open
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with a birth incidence of one in 2000 to one in 3000 [...]
View article: Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration
Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration Open
The SPRED family proteins act as negative regulators of the Ras-ERK pathway: the N-terminal EVH1 domain interacts with the Ras-GAP domain (GRD) of the NF1 protein, while the C-terminal Sprouty-related (SPR) domain promotes membrane localiz…
View article: Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase <scp>II</scp> randomized placebo‐controlled trial
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase <span>II</span> randomized placebo‐controlled trial Open
Aim To find proof‐of‐principle evidence for short‐term treatment with lamotrigine to improve cognitive functioning of adolescents with neurofibromatosis type 1 (NF1). Method This was a double‐blind, parallel‐group, randomized, placebo‐cont…
View article: The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic <i>ANK3</i> variants
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic <i>ANK3</i> variants Open
ANK3 encodes ankyrin‐G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin‐G isoforms comprising different domains with distinct expression patterns. Mono‐ or biallelic ANK3 variants …
View article: Pigment Epithelium Derived Factor Drives Melanocyte Proliferation and Migration in Neurofibromatosis Café Au Lait Macules
Pigment Epithelium Derived Factor Drives Melanocyte Proliferation and Migration in Neurofibromatosis Café Au Lait Macules Open
Background RASopathies, which include neurofibromatosis type 1 (NF1), are defined by Ras/mitogen-activated protein kinase (Ras/MAPK) pathway activation. They represent a group of clinically related disorders often characterised by multiple…
View article: Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants Open
View article: Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosaik: ein Bericht über zwei Familien
Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosaik: ein Bericht über zwei Familien Open
View article: Gonadal and gonadosomatic mosaicism in NF1: report of two families
Gonadal and gonadosomatic mosaicism in NF1: report of two families Open
Dear Editors, Neurofibromatosis type I (NF1) caused by pathogenic variants (PVs) in NF1, is a progressive condition characterized by multiple cafe-au-lait macules (CALMs), skinfold freckling, Lisch nodules, cutaneous, subcutaneous or plexi…
View article: Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases
Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases Open
Background Neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis (grouped under the abbreviation “NF”) are rare hereditary tumor predisposition syndromes. Due to the low prevalence, variability in the ra…
View article: Current state-of-the-art and gaps in platform trials: 10 things you should know, insights from EU-PEARL
Current state-of-the-art and gaps in platform trials: 10 things you should know, insights from EU-PEARL Open
View article: Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization
Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization Open
View article: Germline founder variant c.1998delinsTTCT in the <i>RET</i> oncogene: a cohort study in 15 Belgian families
Germline founder variant c.1998delinsTTCT in the <i>RET</i> oncogene: a cohort study in 15 Belgian families Open
Objective The c.1998delinsTTCT variant in the RET gene (codon 666) is linked to medullary thyroid carcinoma in Belgium. We aimed to study the clinical phenotype and the age-dependent penetrance in predictive variant carriers. Design Retros…
View article: Supplementary Figure Legend from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Supplementary Figure Legend from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association Open
Supplementary Figure Legend from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
View article: Supplementary Table 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Supplementary Table 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association Open
Supplementary Table 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
View article: Supplementary Table 2 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Supplementary Table 2 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association Open
Supplementary Table 2 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
View article: Supplementary Table 2 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Supplementary Table 2 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association Open
Supplementary Table 2 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
View article: Supplementary Table 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Supplementary Table 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association Open
Supplementary Table 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
View article: Supplementary Figure 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Supplementary Figure 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association Open
Supplementary Figure 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
View article: Data from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Data from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association Open
Neurofibromatosis type 1 (NF1) is a common disorder that arises secondary to mutations in the tumor suppressor gene NF1. Glomus tumors are small, benign but painful tumors that originate from the glomus body, a thermoregulatory shun…
View article: Supplementary Figure Legend from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Supplementary Figure Legend from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association Open
Supplementary Figure Legend from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
View article: Supplementary Figure 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Supplementary Figure 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association Open
Supplementary Figure 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
View article: Data from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Data from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association Open
Neurofibromatosis type 1 (NF1) is a common disorder that arises secondary to mutations in the tumor suppressor gene NF1. Glomus tumors are small, benign but painful tumors that originate from the glomus body, a thermoregulatory shun…
View article: YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse Open
View article: SREBP modulates the NADP+/NADPH cycle to control night sleep in Drosophila
SREBP modulates the NADP+/NADPH cycle to control night sleep in Drosophila Open
View article: The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant Open
View article: Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis Open
Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas of the peripheral nervous system that develop either sporadically or in the context of neurofibromatosis type 1 (NF1). MPNST diagnosis can be challenging and treatm…