Génétique et physiopathologie de maladies neurodéveloppementales
Chefs d'équipe : Hervé MOINE , Amelie PITON
Département : Médecine translationnelle et neurogénétique
Amelie PITON
Chercheuse
piton@igbmc.fr
Équipe(s)
Sous-groupe(s)
Publications
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2022
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SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
- Salima El Chehadeh
- Kyung Ah Han
- Dongwook Kim
- Gyubin Jang
- Somayeh Bakhtiari
- Dongseok Lim
- Hee Young Kim
- Jinhu Kim
- Hyeonho Kim
- Julia Wynn
- Wendy K. Chung
- Giuseppina Vitiello
- Ioana Cutcutache
- Matthew Page
- Jozef Gecz
- Kelly Harper
- Ah-Reum Han
- Ho Min Kim
- Marja Wessels
- Allan Bayat
- ...
Nature Communications ; Volume: 13 ; Page: 4112
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Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes
- Benjamin Durand
- Elise Schaefer
- Pauline Burger
- Sarah Baer
- Carmen Maria Schröder
- Jean-Louis Mandel
- Amélie Piton
- Romain Coutelle
Clinical Genetics ; Volume: 102 ; Page: 296-304
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Highlighting the Dystonic Phenotype Related to GNAO1
- Fernando Acosta
- Catherine Nowak
- William G. Wilson
- Dora Steel
- Thomas Wirth
- Giacomo Garone
- Manju A. Kurian
- Amélie Piton
- Francisca Millan
- Aida Telegrafi
- Nathalie Drouot
- Gabrielle Rudolf
- Jamel Chelly
- Warren Marks
- Lydie Burglen
- Diane Demailly
- Philippe Coubes
- Mayté Castro Jimenez
- Sylvie Joriot
- Jamal Ghoumid
- ...
Movement Disorders ; Volume: 37 ; Page: 1547-1554
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Expanding the phenotypic spectrum of ARCN1-related syndrome
- Alyssa L. Ritter
- Jessica Gold
- Hiroshi Hayashi
- Amanda M. Ackermann
- Stephanie Hanke
- Cara Skraban
- Sanmati Cuddapah
- Elizabeth Bhoj
- Dong Li
- Yukiko Kuroda
- Jessica Wen
- Ryojun Takeda
- Audrey Bibb
- Salima El Chehadeh
- Amélie Piton
- Jeanine Ohl
- Mary K. Kukolich
- Keisuke Nagasaki
- Kohji Kato
- Tomoo Ogi
- ...
Genetics in Medicine ; Volume: 24 ; Page: 1227-1237
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De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia
- Thomas Wirth
- Aurélie Méneret
- Nathalie Drouot
- Gabrielle Rudolf
- Ouhaid Lagha Boukbiza
- Jamel Chelly
- Christine Tranchant
- Amélie Piton
- Emmanuel Roze
- Mathieu Anheim
Movement Disorders ; Volume: 37 ; Page: 1115-1117
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GenIDA, une base de données participative internationale permettant de mieux connaître l'histoire naturelle et les comorbidités des formes génétiques de troubles neurodéveloppementaux
- Jean-Louis Mandel
- Pauline Burger
- Axelle Strehle
- Florent Colin
- Timothée Mazzucotelli
- Nicole Collot
- Sarah Baer
- Benjamin Durand
- Amélie Piton
- Romain Coutelle
- Elise Schaefer
- Pierre Parrend
- Laurence Faivre
- Karine Jobard Garou
- David Geneviève
- Valentin Ruault
- Delphine Martin
- Roseline Caumes
- Thomas Smol
- Jamal Ghoumid
- ...
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2021
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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
- Audrey Schalk
- Margot A Cousin
- Nikita R Dsouza
- Thomas D Challman
- Karen E Wain
- Zoe Powis
- Kelly Minks
- Aurélien Trimouille
- Eulalie Lasseaux
- Didier Lacombe
- Chloé Angelini
- Vincent Michaud
- Julien Van-Gils
- Nino Spataro
- Anna Ruiz
- Elizabeth Gabau
- Elliot Stolerman
- Camerun Washington
- Ray Louie
- Brendan C Lanpher
- ...
Journal of Medical Genetics
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
- Jérémie Courraud
- Eric Chater-Diehl
- Benjamin Durand
- Marie Vincent
- Maria del Mar Muñiz Moreno
- Imène Boujelbene
- Nathalie Drouot
- Lauréline Genschik
- Elise Schaefer
- Mathilde Nizon
- Bénédicte Gerard
- Marc Abramowicz
- Benjamin Cogné
- Lucas Bronicki
- Lydie Burglen
- Magalie Barth
- Perrine Charles
- Estelle Colin
- Christine Coubes
- Albert David
- ...
Genetics in Medicine ; Volume: 23 ; Page: 2150–2159
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X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant
- Idriss Bousquet
- Muriel Bozon
- Valerie Castellani
- Renaud Touraine
- Amélie Piton
- Bénédicte Gerard
- Laurent Guibaud
- Damien Sanlaville
- Patrick Edery
- Pascale Saugier-Veber
- Audrey Putoux
Neurogenetics ; Volume: 22 ; Page: 43-51
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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
- Livia Loureiro
- Jennifer L. Howe
- Miriam Reuter
- Alana Iaboni
- Kristina Calli
- Delnaz Roshandel
- Iva Pritišanac
- Alan Moses
- Julie D Forman-Kay
- Brett Trost
- Mehdi Zarrei
- Olivia Rennie
- Lynette Lau
- Christian R Marshall
- Siddharth Srivastava
- Brianna Godlewski
- Elizabeth Buttermore
- Mustafa Sahin
- Dean Hartley
- Thomas Frazier
- ...
npj Genomic Medicine ; Volume: 6 ; Page: 91
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