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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
TLDR
This study reports on seven new patients from five families carrying compound heterozygous or homozygous pathogenic NFU1 mutations identified by candidate gene screening and exome sequencing and contributes to a better definition of the phenotypic spectrum associated with NFU2 mutations and to the diagnostic workup of future patients. Expand
Pyridoxine responsiveness in novel mutations of the PNPO gene
TLDR
This study challenges the paradigm of exclusive PLP responsiveness in patients with pyridoxal 5′-phosphate oxidase deficiency and underlines the importance of consecutive testing of pyrIDoxine and PLP in neonates with antiepileptic drug–resistant seizures. Expand
MicroRNA-21 suppression impedes medulloblastoma cell migration.
Medulloblastoma (MB), the most common malignant brain tumour in children, is characterised by a high risk of leptomeningeal dissemination. But little is known about the molecular mechanisms thatExpand
Pediatric papillary tumors of the pineal region: to observe or to treat following gross total resection?
TLDR
A 3-year-old girl diagnosed with PTPR was irradiated with proton radiotherapy and showed near-complete remission, and local radiotherapy might be suggested also after complete tumor resection. Expand
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
TLDR
12 independent patients are identified carrying a total of eight distinct de novo variants in CYFIP2 with a shared phenotype of intellectual disability, seizures, and muscular hypotonia broadening the molecular and clinical spectrum of a novel CYFip2-related neurodevelopmental disorder. Expand
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
TLDR
Using an LC-MS-based metabolomics platform, several metabolites with affected plasma concentrations including the tricarboxylic acid cycle metabolites cis-aconitate, isocitrate and alpha-ketoglutarate are identified, as well as phosphoenolpyruvate and hydroxybutyrate. Expand
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
TLDR
The hypothesis that complete loss of function variants lead to ID without seizures, small gain-of-function variants cause BFNIE and EE variants exhibit variable but profound Nav1.2 gating changes is supported. Expand
N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics
TLDR
The potential of metabolomics as a translational technique to support exome data on a functional and clinical level is illustrated by a simultaneous genetic-metabolomic approach in twin boys with epileptic encephalopathy of unclear etiology. Expand
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
TLDR
An international multicenter cohort of 16 patients with biallelic pathogenic variants in ACO2 gene provides the most extensive cohort of patients and further delineates the clinical, radiological, biochemical, and molecular features of ACO1 deficiency. Expand
Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation.
TLDR
A case of fatal invasive rhino-orbito-cerebral mucormycosis complicated by bilateral thrombotic occlusion of the internal carotid artery with consequent cerebral infarction in a 5-year-old boy after hematopoietic stem cell transplantation for acute pre-B-cell lymphoblastic leukemia is presented. Expand
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