Marie-Cecile Nassogne
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Explore the profile of Marie-Cecile Nassogne including associated specialties, affiliations and a list of published articles.
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79
Citations
1326
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Recent Articles
1.
Chen Y, Dawes R, Kim H, Ljungdahl A, Stenton S, Walker S, et al.
Nature
. 2024 Jul;
632(8026):832-840.
PMID: 38991538
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in...
2.
Chen Y, Dawes R, Kim H, Stenton S, Walker S, Ljungdahl A, et al.
medRxiv
. 2024 Apr;
PMID: 38645094
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses...
3.
Everard E, Laeremans H, Boemer F, Marie S, Vincent M, Dewulf J, et al.
Eur J Paediatr Neurol
. 2024 Feb;
49:60-65.
PMID: 38377647
Fatty acid oxidation (FAO) disorders are autosomal recessive genetic disorders affecting either the transport or the oxidation of fatty acids. Acute symptoms arise during prolonged fasting, intercurrent infections, or intense...
4.
De Bortoli M, Ivars M, Revencu N, Nassogne M, Lavarino C, Paco S, et al.
Am J Med Genet A
. 2024 Feb;
194(6):e63551.
PMID: 38321651
Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and...
5.
Panagiotakaki E, Tiziano F, Mikati M, Vijfhuizen L, Nicole S, Lesca G, et al.
Eur J Hum Genet
. 2023 Dec;
32(2):224-231.
PMID: 38097767
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopment disorder that is typically characterized by debilitating episodic attacks of hemiplegia, seizures, and intellectual disability. Over 85% of individuals with AHC...
6.
Nassogne M, Marie S, Dewulf J
Eur J Paediatr Neurol
. 2023 Dec;
48:69-77.
PMID: 38056117
Purines and pyrimidines are essential components as they are the building blocks of vital molecules, such as nucleic acids, coenzymes, signalling molecules, as well as energy transfer molecules. Purine and...
7.
Gyening Y, Boris K, Cyril M, Brush R, Nassogne M, Agbaga M
Acta Neuropathol Commun
. 2023 Aug;
11(1):131.
PMID: 37568198
Spinocerebellar ataxia 34 (SCA34) is an autosomal dominant inherited disease characterized by age-related cerebellar degeneration and ataxia caused by mutations in the Elongation of Very Long Chain Fatty Acid-4 (ELOVL4)...
8.
Khalatyan G, Boschi A, Duprez T, Coutel M, Clement de Clety S, Nassogne M
J Neuroophthalmol
. 2023 Jun;
44(3):e453-e454.
PMID: 37318876
No abstract available.
9.
von Wintzingerode L, Ben-Zeev B, Cesario C, Chan K, Depienne C, Elpeleg O, et al.
Genet Med
. 2023 Apr;
25(7):100859.
PMID: 37092538
Purpose: The study aimed to clinically and molecularly characterize the neurodevelopmental disorder associated with heterozygous de novo variants in CNOT9. Methods: Individuals were clinically examined. Variants were identified using exome...
10.
Blauen A, Lenfant C, Duprez T, Nassogne M
Clin Case Rep
. 2023 Jan;
11(1):e6804.
PMID: 36619483
[This corrects the article DOI: 10.1002/ccr3.6686.].