Genetics and pathophysiology of neurodevelopmental Disorders
Team Leaders : Hervé MOINE , Amelie PITON
Department : Translational medecine and neurogenetics
Amelie PITON
Researcher
piton@igbmc.fr
Research team(s)
Research subgroup(s)
Publications
2024
Article in a journal
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
Article in a journal
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
- Thomas Wirth
- Céline Bonnet
- Clarisse Delvallée
- David Pellerin
- Thomas Bogdan
- Guillemette Clément
- Audrey Schalk
- Jean-Baptiste Chanson
- Marie-Céline Fleury
- Amélie Piton
- Nadège Calmels
- Izzie-Jacques Namer
- Stéphane Kremer
- Bernard Brais
- Christine Tranchant
- Mathilde Renaud
- Mathieu Anheim
Journal of Neurology ; Volume: 271 ; Page: 2078-2085
Article in a journal
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
Article in a journal
Rare Missense Variants in <i>KCNJ10</i> Are Associated with Paroxysmal Kinesigenic Dyskinesia
- Thomas Wirth
- Emmanuel Roze
- Clarisse Delvallée
- Oriane Trouillard
- Nathalie Drouot
- Philippe Damier
- Clotilde Boulay
- Marine Bourgninaud
- Prasanthi Jegatheesan
- Aude Sangare
- Sylvie Forlani
- Bertrand Gaymard
- Rémi Hervochon
- Vincent Navarro
- Nadège Calmels
- Audrey Schalk
- Christine Tranchant
- Amélie Piton
- Aurélie Méneret
- Mathieu Anheim
Movement Disorders ; Volume: 39 ; Page: 897 - 905
Article in a journal » Review article
The role of DEAD- and DExH-box RNA helicases in neurodevelopmental disorders
- Johannes Lederbauer
- Sarada Das
- Amélie Piton
- Davor Lessel
- Hans-Jürgen Kreienkamp
Frontiers in Molecular Neuroscience ; Volume: 17 ; Page: 1414949
2023
Article in a journal
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
- Frédéric Bilan
- Brigitte Gilbert-Dussardier
- Isis Atallah
- Vera M. Kalscheuer
- Jean-Louis Mandel
- Amélie Piton
Molecular Psychiatry ; Volume: 29 ; Page: 287 - 296
Article in a journal
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
Article in a journal
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
Article in a journal
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
- Mio Aerden
- Anne-Sophie Denommé-Pichon
- Dominique Bonneau
- Ange-Line Bruel
- Julian Delanne
- Bénédicte Gérard
- Benoît Mazel
- Christophe Philippe
- Lucile Pinson
- Clément Prouteau
- Audrey Putoux
- Frédéric Tran Mau-Them
- Éléonore Viora-Dupont
- Antonio Vitobello
- Alban Ziegler
- Amélie Piton
- Bertrand Isidor
- Christine Francannet
- Pierre-Yves Maillard
- Sophie Julia
- ...
European Journal of Human Genetics ; Volume: 31 ; Page: 461-468
Article in a journal
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