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Page 1
Phenotype and imaging features associated with APP duplications.
Grangeon L, Charbonnier C, Zarea A, Rousseau S, Rovelet-Lecrux A, Bendetowicz D, Lemaitre M, Malrain C, Quillard-Muraine M, Cassinari K, Maltete D, Pariente J, Moreaud O, Magnin E, Cretin B, Mackowiak MA, Sillaire AR, Vercelletto M, Dionet E, Felician O, Rod-Olivieri P, Thomas-Antérion C, Godeneche G, Sauvée M, Cartz-Piver L, Le Ber I, Chauvire V, Jonveaux T, Balageas AC, Laquerriere A, Duyckaerts C, Vital A, de Paula AM, Meyronet D, Guyant-Marechal L, Hannequin D, Tournier-Lasserve E, Campion D; CNR-MAJ collaborators; Nicolas G, Wallon D. Grangeon L, et al. Among authors: laquerriere a. Alzheimers Res Ther. 2023 May 11;15(1):93. doi: 10.1186/s13195-023-01172-2. Alzheimers Res Ther. 2023. PMID: 37170141 Free PMC article.
Prenatal Alcohol Exposure Impairs the Placenta-Cortex Transcriptomic Signature, Leading to Dysregulation of Angiogenic Pathways.
Sautreuil C, Lecointre M, Derambure C, Brasse-Lagnel C, Leroux P, Laquerrière A, Nicolas G, Gil S, Savage DD, Marret S, Marguet F, Falluel-Morel A, Gonzalez BJ. Sautreuil C, et al. Among authors: laquerriere a. Int J Mol Sci. 2023 Aug 30;24(17):13484. doi: 10.3390/ijms241713484. Int J Mol Sci. 2023. PMID: 37686296 Free PMC article.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Allen HL, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, Nicolas G, Goldenberg A, Saugier-Veber P, Lecoquierre F, Dabaj I, Meddaugh H, Marble M, Keppler-Noreuil KM, Drayson L, Barañano KW, Chassevent A, Agre K, Létard P, Bilan F, Le Guyader G, Laquerrière A, Ramsey K, Henderson L, Brady L, Tarnopolsky M, Bainbridge M, Friedman J, Capri Y, Athayde L, Kok F, Gurgel-Giannetti J, Ramos LLP, Blaser S, Dowling JJ, Weksberg R. Deshwar AR, et al. Among authors: laquerriere a. Brain. 2023 Jun 1;146(6):2285-2297. doi: 10.1093/brain/awac461. Brain. 2023. PMID: 36477332
In Utero Alcohol Exposure Impairs Retinal Angiogenesis and the Microvessel-Associated Positioning of Calretinin Interneurons.
Dumanoir M, Leroy A, Burel D, Laquerrière A, Janin F, Lebon A, Valet M, Godefroy D, Przegralek L, Lecointre M, Picaud S, Marret S, Marguet F, Gonzalez BJ, Brasse-Lagnel C. Dumanoir M, et al. Among authors: laquerriere a. eNeuro. 2023 Apr 26;10(4):ENEURO.0295-22.2022. doi: 10.1523/ENEURO.0295-22.2022. Print 2023 Apr. eNeuro. 2023. PMID: 37068950 Free PMC article.
Expression of placental CD146 is dysregulated by prenatal alcohol exposure and contributes in cortical vasculature development and positioning of vessel-associated oligodendrocytes.
Sautreuil C, Lecointre M, Dalmasso J, Lebon A, Leuillier M, Janin F, Lecuyer M, Bekri S, Marret S, Laquerrière A, Brasse-Lagnel C, Gil S, Gonzalez BJ. Sautreuil C, et al. Among authors: laquerriere a. Front Cell Neurosci. 2024 Jan 10;17:1294746. doi: 10.3389/fncel.2023.1294746. eCollection 2023. Front Cell Neurosci. 2024. PMID: 38269113 Free PMC article.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Tessarech M, Friocourt G, Marguet F, Lecointre M, Le Mao M, Díaz RM, Mignot C, Keren B, Héron B, De Bie C, Van Gassen K, Loisel D, Delorme B, Syrbe S, Klabunde-Cherwon A, Jamra RA, Wegler M, Callewaert B, Dheedene A, Zidane-Marinnes M, Guichet A, Bris C, Van Bogaert P, Biquard F, Lenaers G, Marcorelles P, Ferec C, Gonzalez B, Procaccio V, Vitobello A, Bonneau D, Laquerriere A, Khiati S, Colin E. Tessarech M, et al. Among authors: laquerriere a. Genet Med. 2024 May;26(5):101087. doi: 10.1016/j.gim.2024.101087. Epub 2024 Jan 27. Genet Med. 2024. PMID: 38288683 Free article.
When Hemorrhage Hides a Fetal Brain Tumor, Importance of Fetal Autopsy.
Comba C, Sartor A, Laquerriere A, Sevely A, Raveneau M, Chaix Y, Ousselin J, Aziza J, Dubucs C. Comba C, et al. Among authors: laquerriere a. Clin Case Rep. 2024 Dec 9;12(12):e9684. doi: 10.1002/ccr3.9684. eCollection 2024 Dec. Clin Case Rep. 2024. PMID: 39655287 Free PMC article.
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Herbst C, Bothe V, Wegler M, Axer-Schaefer S, Audebert-Bellanger S, Gecz J, Cogne B, Feldman HB, Horn AHC, Hurst ACE, Kelly MA, Kruer MC, Kurolap A, Laquerriere A, Li M, Mark PR, Morawski M, Nizon M, Pastinen T, Polster T, Saugier-Veber P, SeSong J, Sticht H, Stieler JT, Thifffault I, van Eyk CL, Marcorelles P, Vezain-Mouchard M, Abou Jamra R, Oppermann H. Herbst C, et al. Among authors: laquerriere a. Hum Genet. 2024 Mar;143(3):455-469. doi: 10.1007/s00439-024-02655-4. Epub 2024 Mar 25. Hum Genet. 2024. PMID: 38526744 Free PMC article.
260 results