Vincent Cantagrel
Overview
Explore the profile of Vincent Cantagrel including associated specialties, affiliations and a list of published articles.
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Articles
40
Citations
1314
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Recent Articles
1.
Ormieres C, Lesieur-Sebellin M, Siquier-Pernet K, Delplancq G, Rio M, Parisot M, et al.
Mol Autism
. 2025 Feb;
16(1):10.
PMID: 39948625
Background: Developmental language disorder (DLD) refers to children who present with language difficulties that are not due to a known biomedical condition or associated with autism spectrum disorder (ASD) or...
2.
Qebibo L, Davakan A, Nesson-Dauphin M, Boulali N, Siquier-Pernet K, Afenjar A, et al.
Genet Med
. 2024 Dec;
27(3):101337.
PMID: 39674904
Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We...
3.
Fedeli V, Wang J, Cantagrel V, Saiardi A
MicroPubl Biol
. 2024 Dec;
2024.
PMID: 39665074
Inositol hexakisphosphate (InsP ), also known as phytic acid, is a potent chelator of bivalent cations. Intracellular InsP molecules are associated with magnesium. Calcium is the prevalent bivalent cation outside...
4.
Crespin M, Siquier-Pernet K, Marzin P, Bole-Feysot C, Malan V, Nitschke P, et al.
HGG Adv
. 2024 Oct;
6(1):100372.
PMID: 39420558
Cerebellar atrophy and hypoplasia are usually identified on MRI performed on children presenting signs of cerebellar ataxias, developmental delay, and intellectual disability. These signs can be associated with hypo- or...
5.
Wilson M, Kentache T, Althoff C, Schulz C, de Bettignies G, Cabrera G, et al.
Cell
. 2024 Jun;
187(14):3784.
PMID: 38870945
No abstract available.
6.
Wilson M, Kentache T, Althoff C, Schulz C, de Bettignies G, Cabrera G, et al.
Cell
. 2024 May;
187(14):3585-3601.e22.
PMID: 38821050
Dolichol is a lipid critical for N-glycosylation as a carrier for activated sugars and nascent oligosaccharides. It is commonly thought to be directly produced from polyprenol by the enzyme SRD5A3....
7.
Scala M, Tomati V, Ferla M, Lena M, Cohen J, Fatemi A, et al.
Am J Hum Genet
. 2024 Feb;
111(3):529-543.
PMID: 38387458
The Rab family of guanosine triphosphatases (GTPases) includes key regulators of intracellular transport and membrane trafficking targeting specific steps in exocytic, endocytic, and recycling pathways. DENND5B (Rab6-interacting Protein 1B-like protein,...
8.
Lesieur-Sebellin M, Marzin P, Arnoux J, Maurin M, Receveur A, Cantagrel V, et al.
Eur J Med Genet
. 2023 Sep;
66(10):104848.
PMID: 37739061
The association of both uniparental disomy and small supernumerary marker chromosomes is rare. Clinical impact depends on the presence of imprinted genes and/or the unmasking of a recessive mutation of...
9.
Nicolle R, Altin N, Siquier-Pernet K, Salignac S, Blanc P, Munnich A, et al.
BMC Med Genomics
. 2023 Jun;
16(1):143.
PMID: 37344844
Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic encephalopathy. A variant (NM_020320.3:c.-2A ...
10.
Kaiyrzhanov R, Rocca C, Suri M, Gulieva S, Zaki M, Henig N, et al.
Ann Clin Transl Neurol
. 2022 Jun;
9(7):1080-1089.
PMID: 35684946
The endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post-translational insertion of tail-anchored membrane proteins into the endoplasmic reticulum in a defined...