amelie pitonpro

[amelie pitonpro @APitonpro]

@NicoChatron @British_Airways @HeathrowAirport next year, Berlin by train! ;)

[Herault @YannHerault]

GENIDA une base de données participative utilisée par le Dr Durand pour comprendre les symptomes associés sur les troubles du neurodeveloppements et considérer les témoignages des familles au meeting @Stras_ND

[Herault @YannHerault]

Un magifique rappel de l'Histoire de la maladie du X fragile par le Pr Jean-Louis Mandel aux journees STRAS&ND pour la recherche sur l Autisme et les troubles neurodeveloppementaux ! Un bel exemple de la démarche scientifique pour des découvertes majeures en génétique! @IGBMC

[amelie pitonpro @APitonpro]

Soirée familles Stras&nd ce jeudi, le 1er décembre. Ça se passe à la MISHA (Strasbourg - Esplanade) avec notre invité le Pr Jean-Louis Mandel! Entrée libre.
Venez nombreuses et nombreux!

Toutes les informations: https://t.co/Z3XjXxZ1zS

[amelie pitonpro @APitonpro]

The best end for a great DYRK1A scientific meeting: a morning shared with the amazing families affected by DYRK1A syndrome, with @YannHerault, Laurent Meijer, Marjolaine Willems and others

[amelie pitonpro @APitonpro]

so proud of being in Oslo today for the Kavli price rewarding Fragile X mutation discovery and the career of Jean-Louis Mandel!

[amelie pitonpro @APitonpro]

Oslo, Kavli price interview with Neuroscience laureates

[Lessel Lab @DavorLessel]

At @Argonautes_conf sharing information on AGO1&2 syndromes with families of the affected with @APitonpro @KreienkampL and @MeisterLab

[argonautes.conference @Argonautes_conf]

We had a great time at the 1st #ArgonautesConference in Regensburg. Thanks to all participants and helpers for this memorable event. Stay tuned for the next #ArgonautesConference.

[amelie pitonpro @APitonpro]

Happy to share the results of this fruitfull collaboration with a great corean team and geneticist colleagues from all over the world!
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition… https://t.co/9yKNKVcOxQ

[amelie pitonpro @APitonpro]

Thanks to Benjamin Durand and Genida!
Neurocognitive and neurobehavioural characterization of two frequent forms of neurodevelopmental disorders: the DYR… https://t.co/mvBWLcunmR

[amelie pitonpro @APitonpro]

Great and useful talks on the effect of coding and non-coding variants in RAC1, AFF3, FOXG1 and others at #eshg22

[amelie pitonpro @APitonpro]

#ESHG2022 c est parti! So glad to be in Vienna for human genetics :)

[amelie pitonpro @APitonpro]

congratulations Jean-Louis!!

[The Kavli Prize @KavliPrize]

JUST ANNOUNCED
#KavliPrize2022 #Neuroscience honors Jean-Louis Mandel, Harry Orr, Christopher Walsh and Huda Zoghbi for pioneering the discovery of genes underlying a range of serious brain disorders and elucidating the pathways by which these genes work.
https://t.co/NnsEF3xxRC

[Christel Depienne @ChristelDepienn]

I am delighted to finally share our new preprint: Systematic analysis and prediction of genes associated with disorders on chromosome X https://t.co/61K0EXfZsv
Thanks to Elsa Leitão and Christopher Schröder for the amazing work and to all of our collaborators incl. @APitonpro

[CLAIRE COMPAGNON @CCompagnon_]

https://t.co/412FoNkxE7
@Stras_ND @ars_grand_est

[JMG @JMG_BMJ]

De novo missense Argonaute 1 (AGO1) variants cause a #neurodevelopmental disorder with intellectual disability

New #Research here: https://t.co/HJQCIBE0Os

#Genomics #Genetics #MedicalGenetics #RareDisease #ClinicalGenetics @NeuroGen_papers

Pic: Lorenzo Costa: The Argo

[IGBMC @IGBMC]

#PhDIGBMC // Congrats to Jérémie Courraud for his #PhD defence titled : Molecular characterization of two forms of intellectual deficiency, associated with mutations in PQBP1 and DYRK1A.

Also, congrats to him for obtaining the 2021 @FondLejeune Young Researcher Award ! 🏆

[amelie pitonpro @APitonpro]

Felicitations @HyenneV !

[amelie pitonpro @APitonpro]

Distinctions. Les talents de la science en Alsace primés par le CNRS - https://t.co/UIiAxRluS0