Emmanuel Scalais
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Explore the profile of Emmanuel Scalais including associated specialties, affiliations and a list of published articles.
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37
Citations
831
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Recent Articles
1.
Kasriel E, Boecher-Schwarz H, Scalais E
Cureus
. 2024 Sep;
16(8):e67525.
PMID: 39310532
We present a case of a 13-year-old boy with abdominal pain initially misdiagnosed as gastrointestinal in origin. Despite initial outpatient management, his symptoms rapidly deteriorated, revealing a central-medullary cavernous malformation...
2.
Ryckmans C, Donge M, Marchese A, Mastouri M, Thomee C, Stouffs K, et al.
Am J Med Genet A
. 2023 Dec;
194(5):e63510.
PMID: 38135344
Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy classically characterized by early onset of severe neurologic injury with basal ganglia calcifications, white matter abnormalities, and progressive cerebral atrophy, along with lymphocytosis...
3.
Franchino C, Brughera M, Baderna V, De Ritis D, Rocco A, Seneca S, et al.
Brain
. 2023 Oct;
147(3):1043-1056.
PMID: 37804316
AFG3L2 is a mitochondrial protease exerting protein quality control in the inner mitochondrial membrane. Heterozygous AFG3L2 mutations cause spinocerebellar ataxia type 28 (SCA28) or dominant optic atrophy type 12 (DOA12),...
4.
Scalais E, Geron C, Pierron C, Cardillo S, Schlesser V, Mataigne F, et al.
Mol Genet Metab
. 2023 Aug;
140(3):107681.
PMID: 37604084
In early-onset (EO) cblC deficiency (MMACHC), hydroxocobalamin dose-intensification (OHCBL-DI) improved biochemical and clinical outcome. In mammals, Cobalamin is reduced, in a reaction mediated by MMACHC. Pathogenic variants in MMACHC disrupt...
5.
Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, et al.
Genet Med
. 2022 Oct;
24(12):2475-2486.
PMID: 36197437
Purpose: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene...
6.
Blondel F, Pierron C, Scalais E, Becker M
BMJ Case Rep
. 2022 Aug;
15(8).
PMID: 35922085
Adrenal insufficiency (AI) in a newborn due to hypothalamic-pituitary-adrenal (HPA) axis suppression after maternal glucocorticoid therapy during pregnancy is a rare condition. We report an AI triggered by a nosocomial...
7.
Kury S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert S, et al.
Genet Med
. 2022 Jun;
24(9):1941-1951.
PMID: 35678782
Purpose: WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development...
8.
Chen X, Wilson K, Schaefer N, de Hayr L, Windsor M, Scalais E, et al.
Front Mol Neurosci
. 2022 May;
15:886729.
PMID: 35571374
Glycine receptors (GlyRs) containing the α2 subunit govern cell fate, neuronal migration and synaptogenesis in the developing cortex and spinal cord. Rare missense variants and microdeletions in the X-linked GlyR...
9.
Jouret G, Heide S, Sorlin A, Faivre L, Chantot-Bastaraud S, Beneteau C, et al.
Clin Genet
. 2022 Apr;
102(2):117-122.
PMID: 35470444
BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin-mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic...
10.
Bar C, Breuillard D, Kuchenbuch M, Jennesson M, Guyader G, Isnard H, et al.
Epilepsy Behav
. 2021 Dec;
126:108471.
PMID: 34915430
Aim: KCNB1 encephalopathy encompasses a broad phenotypic spectrum associating intellectual disability, behavioral disturbances, and epilepsies of various severity. Using standardized parental questionnaires, we aimed to capture the heterogeneity of the...