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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium; LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C. Florian RT, et al. Among authors: plassard d. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9. Nat Commun. 2019. PMID: 31664039 Free PMC article.
A new genetically engineered mouse model of choroid plexus carcinoma.
El Nagar S, Zindy F, Moens C, Martin L, Plassard D, Roussel MF, Lamonerie T, Billon N. El Nagar S, et al. Among authors: plassard d. Biochem Biophys Res Commun. 2018 Feb 5;496(2):568-574. doi: 10.1016/j.bbrc.2017.11.192. Epub 2018 Jan 12. Biochem Biophys Res Commun. 2018. PMID: 29339161 Free PMC article.
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Estrada-Cuzcano A, Etard C, Delvallée C, Stoetzel C, Schaefer E, Scheidecker S, Geoffroy V, Schneider A, Studer F, Mattioli F, Chennen K, Sigaudy S, Plassard D, Poch O, Piton A, Strahle U, Muller J, Dollfus H. Estrada-Cuzcano A, et al. Among authors: plassard d. Hum Mutat. 2020 Jan;41(1):240-254. doi: 10.1002/humu.23924. Epub 2019 Oct 17. Hum Mutat. 2020. PMID: 31549751
Polycystic ovary syndrome is transmitted via a transgenerational epigenetic process.
Mimouni NEH, Paiva I, Barbotin AL, Timzoura FE, Plassard D, Le Gras S, Ternier G, Pigny P, Catteau-Jonard S, Simon V, Prevot V, Boutillier AL, Giacobini P. Mimouni NEH, et al. Among authors: plassard d. Cell Metab. 2021 Mar 2;33(3):513-530.e8. doi: 10.1016/j.cmet.2021.01.004. Epub 2021 Feb 3. Cell Metab. 2021. PMID: 33539777 Free PMC article.
GnRH replacement rescues cognition in Down syndrome.
Manfredi-Lozano M, Leysen V, Adamo M, Paiva I, Rovera R, Pignat JM, Timzoura FE, Candlish M, Eddarkaoui S, Malone SA, Silva MSB, Trova S, Imbernon M, Decoster L, Cotellessa L, Tena-Sempere M, Claret M, Paoloni-Giacobino A, Plassard D, Paccou E, Vionnet N, Acierno J, Maceski AM, Lutti A, Pfrieger F, Rasika S, Santoni F, Boehm U, Ciofi P, Buée L, Haddjeri N, Boutillier AL, Kuhle J, Messina A, Draganski B, Giacobini P, Pitteloud N, Prevot V. Manfredi-Lozano M, et al. Among authors: plassard d. Science. 2022 Sep 2;377(6610):eabq4515. doi: 10.1126/science.abq4515. Epub 2022 Sep 2. Science. 2022. PMID: 36048943 Free PMC article.
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