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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2024
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Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1
- Ye Duan
- Li Li
- Ganesh Prabhakar Panzade
- Amélie Piton
- Anna Zinovyeva
- Victor Ambros
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 121
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
- Thomas Husson
- François Lecoquierre
- Gaël Nicolas
- Anne-Claire Richard
- Alexandra Afenjar
- Séverine Audebert-Bellanger
- Catherine Badens
- Frédéric Bilan
- Varoona Bizaoui
- Anne Boland
- Marie-Noëlle Bonnet-Dupeyron
- Elise Brischoux-Boucher
- Céline Bonnet
- Marie Bournez
- Odile Boute
- Perrine Brunelle
- Roseline Caumes
- Perrine Charles
- Nicolas Chassaing
- Nicolas Chatron
- ...
European Journal of Human Genetics ; Volume: 32 ; Page: 190-199
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Lessons from two series by physicians and caregivers' self‐reported data in DDX3X ‐related disorders
- Valentin Ruault
- Pauline Burger
- Johanna Gradels-Hauguel
- Nathalie Ruiz
- Rami Abou Jamra
- Alexandra Afenjar
- Yves Alembik
- Jean‐luc Alessandri
- Stéphanie Arpin
- Giulia Barcia
- Šárka Bendová
- Ange‐line Bruel
- Perrine Charles
- Nicolas Chatron
- Maya Chopra
- Solène Conrad
- Valérie Cormier Daire
- Auriane Cospain
- Christine Coubes
- Juliette Coursimault
- ...
Molecular Genetics & Genomic Medicine ; Volume: 12 ; Page: e2363
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2023
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Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
- Jérémie Courraud
- Camille Engel
- Angélique Quartier
- Nathalie Drouot
- Ursula Houessou
- Damien Plassard
- Arthur Sorlin
- Elise Brischoux-Boucher
- Evan Gouy
- Lionel Van Maldergem
- Massimiliano Rossi
- Gaetan Lesca
- Patrick Edery
- Audrey Putoux
- Frederic Bilan
- Brigitte Gilbert-Dussardier
- Isis Atallah
- Vera M. Kalscheuer
- Jean-Louis Mandel
- Amélie Piton
Molecular Psychiatry
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Growth charts in DYRK1A syndrome
- Pierre‐louis Lanvin
- Thomas Goronflot
- Bertrand Isidor
- Mathilde Nizon
- Benjamin Durand
- Salima El Chehadeh
- David Geneviève
- Valentin Ruault
- Mélanie Fradin
- Laurent Pasquier
- Julien Thevenon
- Bruno Delobel
- Lydie Burglen
- Alexandra Afenjar
- Laurence Faivre
- Christine Francannet
- Anne‐marie Guerrot
- Alice Goldenberg
- Sandra Mercier
- Delphine Héron
- ...
American Journal of Medical Genetics Part A ; Volume: 194 ; Page: 9-16
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Natural History and Phenotypic Spectrum of GAA‐ FGF14 Sporadic Late‐Onset Cerebellar Ataxia (SCA27B)
- Thomas Wirth
- Guillemette Clément
- Clarisse Delvallée
- Céline Bonnet
- Thomas Bogdan
- Andra Iosif
- Audrey Schalk
- Jean‐baptiste Chanson
- David Pellerin
- Bernard Brais
- Virginie Roth
- Marion Wandzel
- Marie‐céline Fleury
- Amélie Piton
- Nadège Calmels
- Izzie Jacques Namer
- Stéphane Kremer
- Christine Tranchant
- Mathilde Renaud
- Mathieu Anheim
Movement Disorders ; Volume: 38 ; Page: 1950-1956
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The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance
- Mira Brazane
- Dilyana Dimitrova
- Julien Pigeon
- Chiara Paolantoni
- Tao Ye
- Virginie Marchand
- Bruno da Silva
- Elise Schaefer
- Margarita Angelova
- Zornitza Stark
- Martin Delatycki
- Tracy Dudding-Byth
- Jozef Gecz
- Pierre-Yves Plaçais
- Laure Teysset
- Thomas Préat
- Amélie Piton
- Bassem Hassan
- Jean-Yves Roignant
- Yuri Motorin
- ...
Life Science Alliance ; Volume: 6 ; Page: e202201877
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GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome
- Pauline Burger
- Florent Colin
- Axelle Strehle
- Timothée Mazzucotelli
- Nicole Collot
- Ariane Bouman
- Daphna Landau Prat
- David Geneviève
- Valentin Ruault
- Roseline Caumes
- Thomas Smol
- Jamal Ghoumid
- Joost Kummeling
- Charlotte Ockeloen
- Tjitske Kleefstra
- Pierre Parrend
- Amélie Piton
- David Koolen
- Jean-Louis Mandel
Genetics in Medicine Open ; Volume: 1 ; Page: 100699
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ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
- Maria W. A. Teunissen
- Elly Lewerissa
- Eline J. H. van Hugte
- Shan Wang
- Charlotte W. Ockeloen
- David A. Koolen
- Rolph Pfundt
- Carlo L. M. Marcelis
- Eva Brilstra
- Jennifer L. Howe
- Stephen W. Scherer
- Xavier Le Guillou
- Frédéric Bilan
- Michelle Primiano
- Jasmin Roohi
- Amélie Piton
- Anne de Saint Martin
- Sarah Baer
- Simone Seiffert
- Konrad Platzer
- ...
Human Molecular Genetics ; Volume: 32 ; Page: 2373-2385
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2022
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The different clinical facets of SYN1-related neurodevelopmental disorders
- Ilaria Parenti
- Elsa Leitão
- Alma Kuechler
- Laurent Villard
- Cyril Goizet
- Cécile Courdier
- Allan Bayat
- Alessandra Rossi
- Sophie Julia
- Ange-Line Bruel
- Frédéric Tran Mau-Them
- Sophie Nambot
- Daphné Lehalle
- Marjolaine Willems
- James Lespinasse
- Jamal Ghoumid
- Roseline Caumes
- Thomas Smol
- Salima El Chehadeh
- Elise Schaefer
- ...
Frontiers in Cell and Developmental Biology ; Volume: 10 ; Page: 1019715
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