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A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.
Vezain M, Lecuyer M, Rubio M, Dupé V, Ratié L, David V, Pasquier L, Odent S, Coutant S, Tournier I, Trestard L, Adle-Biassette H, Vivien D, Frébourg T, Gonzalez BJ, Laquerrière A, Saugier-Veber P. Vezain M, et al. Among authors: laquerriere a. Acta Neuropathol Commun. 2018 Oct 19;6(1):109. doi: 10.1186/s40478-018-0610-5. Acta Neuropathol Commun. 2018. PMID: 30340542 Free PMC article.
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.
Pasquier L, Marcorelles P, Loget P, Pelluard F, Carles D, Perez MJ, Bendavid C, de La Rochebrochard C, Ferry M, David V, Odent S, Laquerrière A. Pasquier L, et al. Among authors: laquerriere a. Acta Neuropathol. 2009 Feb;117(2):185-200. doi: 10.1007/s00401-008-0469-9. Epub 2008 Dec 5. Acta Neuropathol. 2009. PMID: 19057916
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Adle-Biassette H, Saugier-Veber P, Fallet-Bianco C, Delezoide AL, Razavi F, Drouot N, Bazin A, Beaufrère AM, Bessières B, Blesson S, Bucourt M, Carles D, Devisme L, Dijoud F, Fabre B, Fernandez C, Gaillard D, Gonzales M, Jossic F, Joubert M, Laurent N, Leroy B, Loeuillet L, Loget P, Marcorelles P, Martinovic J, Perez MJ, Satge D, Sinico M, Tosi M, Benichou J, Gressens P, Frebourg T, Laquerrière A. Adle-Biassette H, et al. Among authors: laquerriere a. Acta Neuropathol. 2013 Sep;126(3):427-42. doi: 10.1007/s00401-013-1146-1. Epub 2013 Jul 3. Acta Neuropathol. 2013. PMID: 23820807
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.
Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A. Saugier-Veber P, et al. Among authors: laquerriere a. Acta Neuropathol Commun. 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4. Acta Neuropathol Commun. 2017. PMID: 28460636 Free PMC article.
PLGF, a placental marker of fetal brain defects after in utero alcohol exposure.
Lecuyer M, Laquerrière A, Bekri S, Lesueur C, Ramdani Y, Jégou S, Uguen A, Marcorelles P, Marret S, Gonzalez BJ. Lecuyer M, et al. Among authors: laquerriere a. Acta Neuropathol Commun. 2017 Jun 6;5(1):44. doi: 10.1186/s40478-017-0444-6. Acta Neuropathol Commun. 2017. PMID: 28587682 Free PMC article.
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
Marguet F, Vezain M, Marcorelles P, Audebert-Bellanger S, Cassinari K, Drouot N, Chambon P, Gonzalez BJ, Horowitz A, Laquerriere A, Saugier-Veber P. Marguet F, et al. Among authors: laquerriere a. Acta Neuropathol Commun. 2021 Jun 6;9(1):104. doi: 10.1186/s40478-021-01207-5. Acta Neuropathol Commun. 2021. PMID: 34092257 Free PMC article.
Oligodendrocyte lineage is severely affected in human alcohol-exposed foetuses.
Marguet F, Brosolo M, Friocourt G, Sauvestre F, Marcorelles P, Lesueur C, Marret S, Gonzalez BJ, Laquerrière A. Marguet F, et al. Among authors: laquerriere a. Acta Neuropathol Commun. 2022 May 14;10(1):74. doi: 10.1186/s40478-022-01378-9. Acta Neuropathol Commun. 2022. PMID: 35568959 Free PMC article.
260 results