Quentin Thomas
Overview
Explore the profile of Quentin Thomas including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
31
Citations
240
Followers
0
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Cabello-Aguilar S, Vendrell J, Evrard S, Thomas Q, Roch B, Escudie F, et al.
Lab Invest
. 2025 Feb;
:104117.
PMID: 39986540
MET amplification (MET) is a noteworthy genomic alteration that can occur in patients with non-small cell lung cancer (NSCLC). It has been demonstrated to occur as a primary oncogenic driver...
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.
Damman P, Demery V, Palumbo G, Thomas Q
Phys Rev Lett
. 2025 Jan;
133(26):267103.
PMID: 39879003
The phase separation that occurs in two-temperature mixtures, which are driven out of equilibrium at the local scale, has been thoroughly characterized, but much less is known about the depletion...
4.
Schneider V, Dupont G, Madinier G, Ramond F, Lesca G, Thauvin-Robinet C, et al.
Cerebellum
. 2024 Jul;
23(6):2616-2621.
PMID: 39073549
Biallelic WARS2 pathogenic variants responsible for partial defect in aminoacylation, have recently been reported in subjects presenting with late-onset phenotypes combining dopa-responsive early-onset dystonia parkinsonism with altered DaTSCAN and progressive...
5.
Hamamie-Chaar A, Renaud M, Gencpinar P, Bruel A, Philippe C, Maraval J, et al.
J Neurol
. 2024 Jul;
271(9):6343-6348.
PMID: 39003427
Spastic paraplegia type 3A (SPG3A) is the second most common form of hereditary spastic paraplegia (HSP). This autosomal-dominant-inherited motor disorder is caused by heterozygous variants in the ATL1 gene which...
6.
Grangeon L, Boulouis G, Capron J, Bala F, Renard D, Raposo N, et al.
Neurology
. 2024 Jun;
103(2):e209548.
PMID: 38900992
Background And Objectives: Cerebral amyloid angiopathy-related inflammation (CAA-RI) and biopsy-positive primary angiitis of the CNS (BP-PACNS) have overlapping clinicoradiologic presentations. It is unknown whether clinical and radiologic features can differentiate...
7.
Engel C, Chevarin M, Piard J, Abad M, Thomas Q, Carmignac V, et al.
Clin Genet
. 2024 Feb;
105(5):581-583.
PMID: 38379111
A case of mosaic MTOR-associated hemimegalencephaly and hypomelanosis of Ito, died at 33 probably because of sudden unexpected death in epilepsy. Assessment of the variant allele fraction (VAF) in different...
8.
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...
9.
Lancon A, Beaudouin A, Lambert L, Baurand A, Petit E, Schaefer E, et al.
Eur J Med Genet
. 2023 Sep;
66(10):104841.
PMID: 37714374
Introduction: In France, few centres per region offer genetics consultations. Consequently, each centre covers a large area, often requiring patients to take a day off to travel long distances. In...
10.
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...