Marie‐Cécile Nassogne

Cliniques Universitaires Saint-Luc — Belgium

Biochemistry, Genetics and Molecular Biology · Life Sciences

42h-index5.9kcitations197works11.62yr avg
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Research Topics

Metabolism and Genetic Disorders(56), Mitochondrial Function and Pathology(22), Genetics and Neurodevelopmental Disorders(17), Fetal and Pediatric Neurological Disorders(11), Amino Acid Enzymes and Metabolism(11)

Publications197 total

The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
Brain·2025Open Access
Perceptions and needs of NICU professionals regarding pediatric palliative care: a qualitative study compared with international literature
BMC Palliative Care·2025Open Access
Perceptions and Needs of NICU Professionals Regarding Pediatric Palliative Care: A Qualitative Study Compared with International Literature
2025Open Access
Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow
International Journal of Neonatal Screening·2025Open Access
<i>De novo</i> variants of <i>NALCN</i> differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current
2025· 1 citedOpen Access
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Nature·2024· 94 citedOpen Access
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
Molecular Genetics and Metabolism·2024· 7 citedOpen Access
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders
2024· 10 citedOpen Access
Digenic Leigh syndrome on the background of the m.11778G&amp;gt;A Leber hereditary optic neuropathy variant
Brain·2024· 8 citedOpen Access
Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
European Journal of Paediatric Neurology·2024· 4 citedOpen Access
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic <i>AKT3</i> pathogenic variants
American Journal of Medical Genetics Part A·2024· 4 citedOpen Access
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
European Journal of Human Genetics·2023· 6 citedOpen Access
Neurological presentations of inborn errors of purine and pyrimidine metabolism
European Journal of Paediatric Neurology·2023· 11 citedOpen Access
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report
Acta Neuropathologica Communications·2023· 7 citedOpen Access
Parinaud Syndrome Secondary to Cerebral Infarction in a COVID--Positive Child With Severe Diabetic Ketoacidosis
Journal of Neuro-Ophthalmology·2023Open Access
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy
Genetics in Medicine·2023· 1 citedOpen Access
Usefulness of serum neurofilament light in the assessment of neurologic outcome in the pediatric population: a systematic literature review
European Journal of Pediatrics·2023· 4 citedOpen Access
Corrigendum
Clinical Case Reports·2023Open Access
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia
European Journal of Medical Genetics·2022· 9 cited
Parinaud’s syndrome caused by a cerebral infarction in a Covid positive child secondary to diabetic ketoacidosis
Research Square (Research Square)·2022Open Access
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Frequent Co-authors

Guy Touati(5), Philippe Evrard(4), Marc D’Hooghe(4), Pierre J. Courtoy(4), Jean‐Marie Saudubray(4), Hélène Verhelst(4), Linda De Meırleır(4), Françis Brunelle(4), Emile Van Schaftingen(3), Daniel Rabier(3), Christine Bonnier(3), Luísa Diogo(3), Arnold Münnich(3), Marie‐Françoise Vincent(3), Pascale de Lonlay(3), Richard J. Leventer(3), Laurence Faivre(3), Isabelle Maystadt(3), Valérie Benoît(3), Ron A. Wevers(3)