Cecilia Marelli
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Explore the profile of Cecilia Marelli including associated specialties, affiliations and a list of published articles.
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57
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1096
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Recent Articles
1.
Ferrero E, Vaz F, Cheillan D, Brusco A, Marelli C
Mol Genet Metab
. 2025 Feb;
144(3):109050.
PMID: 39946831
In lipid metabolism, the fatty acid (FA) elongation system synthesises a wide array of FAs, crucial for various biological functions. The role of this system is to lengthen FA carbon...
2.
Tchan M, Lehman A, van Dussen L, Langendonk J, Janssen M, Langeveld M, et al.
J Inherit Metab Dis
. 2025 Feb;
48(2):e70005.
PMID: 39912519
There are still few centres, which specialise in the care of adults with inborn errors of metabolism (IEM). All physicians who participated in the SSIEM adult metabolic physicians group paper...
3.
Benkirane M, Bonhomme M, Morsy H, Safgren S, Marelli C, Chaussenot A, et al.
Brain
. 2024 Jun;
147(11):3681-3689.
PMID: 38884572
Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis and frontotemporal dementia, based on identification of likely pathogenic variants in patients from distinct amyotrophic lateral sclerosis...
4.
Kacher R, Lejeune F, David I, Boluda S, Coarelli G, Leclere-Turbant S, et al.
Am J Hum Genet
. 2024 Apr;
111(5):913-926.
PMID: 38626762
Expanded CAG repeats in coding regions of different genes are the most common cause of dominantly inherited spinocerebellar ataxias (SCAs). These repeats are unstable through the germline, and larger repeats...
5.
Nicolas G, Zarea A, Lacour M, Quenez O, Rousseau S, Richard A, et al.
Genet Med
. 2024 Jan;
26(5):101082.
PMID: 38281098
Purpose: To assess the likely pathogenic/pathogenic (LP/P) variants rates in Mendelian dementia genes and the moderate-to-strong risk factors rates in patients with Alzheimer disease (AD). Methods: We included 700 patients...
6.
Mereaux J, Davoine C, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, et al.
EBioMedicine
. 2023 Dec;
99:104931.
PMID: 38150853
Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10-60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and...
7.
Baide-Mairena H, Coget A, Leboucq N, Procaccio V, Blanluet M, Meyer P, et al.
Ann Clin Transl Neurol
. 2023 Jul;
10(10):1937-1943.
PMID: 37491839
We present the phenotype of an infant with the largest ATN1 CAG expansion reported to date (98 repeats). He presented at 4 months with developmental delay, poor eye contact, acquired...
8.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, et al.
Am J Hum Genet
. 2023 Jun;
110(7):1098-1109.
PMID: 37301203
Although the best-known spinocerebellar ataxias (SCAs) are triplet repeat diseases, many SCAs are not caused by repeat expansions. The rarity of individual non-expansion SCAs, however, has made it difficult to...
9.
Yilmaz B, Baruteau J, Arslan N, Aydin H, Barth M, Bozaci A, et al.
Life (Basel)
. 2022 Nov;
12(11).
PMID: 36362876
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the...
10.
Ayrignac X, Carra-Dalliere C, Marelli C, Taieb G, Labauge P
JAMA Neurol
. 2022 Aug;
79(10):1069-1078.
PMID: 35969413
Importance: Adult-onset genetic disorders may present with clinical and magnetic resonance imaging (MRI) features suggestive of acquired inflammatory diseases. An ever-growing number of potentially treatable adult-onset genetic neuroinflammatory disorders have...