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
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2023
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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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Reply to: "GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype
- Thomas Wirth
- Giacomo Garone
- Manju A. Kurian
- Amélie Piton
- Emmanuel Roze
- Jean Pierre Lin
- Christine Tranchant
- Laura Cif
- Diane Doummar
- Mathieu Anheim
Movement Disorders ; Volume: 37 ; Page: 2466-2467
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GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders
- Pauline Burger
- Florent Colin
- Axelle Strehle
- Timothée Mazzucotelli
- Nicole Collot
- Romain Coutelle
- Benjamin Durand
- Arianne Bouman
- Daphna Landau Prat
- Tjitske Kleefstra
- Pierre Parrend
- Amélie Piton
- David Koolen
- Jean-Louis Mandel
Journal of Neural Transmission ; Volume: 27 ; Page: 1-13
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Molecular and clinical descriptions of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations
- Pierre‐yves Maillard
- Sarah Baer
- Elise Schaefer
- Béatrice Desnous
- Nathalie Villeneuve
- Anne Lépine
- Alexandre Fabre
- Caroline Lacoste
- Salima El Chehadeh
- Amélie Piton
- Louise Frances Porter
- Caroline Perriard
- Marie-Thérèse Abi-Wardé
- Marie-Aude Spitz
- Vincent Laugel
- Gaëtan Lesca
- Audrey Putoux
- Dorothée Ville
- Cyril Mignot
- Delphine Héron
- ...
Epilepsia ; Volume: 63 ; Page: 2519-2533
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De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
- Marcello Scala
- Nathalie Drouot
- Suzanna C. Maclennan
- Marja W. Wessels
- Magdalena Krygier
- Lisa Pavinato
- Aida Telegrafi
- Stella A. de Man
- Marjon van Slegtenhorst
- Michele Iacomino
- Francesca Madia
- Paolo Scudieri
- Paolo Uva
- Thea Giacomini
- Giulia Nobile
- Maria Margherita Mancardi
- Ganna Balagura
- Giovanni Battista Galloni
- Alberto Verrotti
- Muhammad Umair
- ...
Human Mutation ; Volume: 43 ; Page: 1299-1313
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