<i>YIF1B</i> mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations (vol 143, pg 2911, 2020)

Jorge Diaz; Xavier Gerard; Michel-Boris Emerit; Julie Areias; David Geny; Julie Degardin; Manuel Simonutti; Marie-Justine Guerquin; Thibault Collin; Cécile Viollet; Jean-Marie Billard; Christine Metin; Laurence Hubert; Farzaneh Larti; Kimia Kahrizi; Rebekah Jobling; Emanuele Agolini; Ranad Shaheen; Alban Zigler; Virginie Rouiller-Fabre; Jean-Michel Rozet; Serge Picaud; Antonio Novelli; Seham Alameer; Hossein Najmabadi; Ronald Cohn; Arnold Munnich; Magalie Barth; Licia Lugli; Fowzan S. Alkuraya; Susan Blaser; Maha Gashlan; Claude Besmond; Miche Le Darmon; Justine Masson

doi:10.1093/brain/awaa449

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<i>YIF1B</i> mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations (vol 143, pg 2911, 2020)

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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations (vol 143, pg 2911, 2020)

Jorge Diaz, Xavier Gerard, Michel-Boris Emerit, Julie Areias, David Geny, Julie Degardin, Manuel Simonutti, Marie-Justine Guerquin, Thibault Collin, Cécile Viollet, …

Brain - A Journal of Neurology , Vol.143(10), pp.2911-2928

10/2020

DOI: https://doi.org/10.1093/brain/awaa449

PMID: 33103737

Abstract

ER; Golgi; neurodevelopmental delay; primary cilium

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Title: YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations (vol 143, pg 2911, 2020)
Creators - without role: Jorge Diaz - Institut de Neurosciences Cognitives et Intégratives d’Aquitaine
Xavier Gerard - Institut des Maladies Génétiques Imagine
Michel-Boris Emerit - Institut de Psychiatrie et Neurosciences de Paris
Julie Areias - Université de Montpellier, Institut de Génomique Fonctionnelle - IGF
David Geny - Institut de Psychiatrie et Neurosciences de Paris
Julie Degardin - Institut de la Vision
Manuel Simonutti - Institut de la Vision
Marie-Justine Guerquin - U967, Laboratoire de Développement des Gonades
Thibault Collin - SPPIN - Saints-Pères Paris Institute for Neurosciences
Cécile Viollet - Inserm
Jean-Marie Billard - COMETE - Mobilités : Vieillissement, pathologie, santé
Christine Metin - Institut du Fer à Moulin
Laurence Hubert - Institut des Maladies Génétiques Imagine
Farzaneh Larti - University of Social Welfare and Rehabilitation Sciences
Kimia Kahrizi - University of Social Welfare and Rehabilitation Sciences
Rebekah Jobling - SickKids Foundation
Emanuele Agolini - Bambino Gesù Children's Hospital
Ranad Shaheen - King Faisal Specialist Hospital & Research Centre
Alban Zigler - Centre Hospitalier Universitaire d'Angers
Virginie Rouiller-Fabre - Commissariat à l'Énergie Atomique et aux Énergies Alternatives
Jean-Michel Rozet - Genetics in Ophthalmology
Serge Picaud - Institut de la Vision
Antonio Novelli - Bambino Gesù Children's Hospital
Seham Alameer - King Khaled Hospital
Hossein Najmabadi - University of Social Welfare and Rehabilitation Sciences
Ronald Cohn - SickKids Foundation
Arnold Munnich - Institut des Maladies Génétiques Imagine
Magalie Barth - Centre Hospitalier Universitaire d'Angers
Licia Lugli - Azienda Ospedaleria Universitaria di Modena = University Hospital of Modena
Fowzan S. Alkuraya
Susan Blaser - SickKids Foundation
Maha Gashlan - SickKids Foundation
Claude Besmond - Institut des Maladies Génétiques Imagine
Miche Le Darmon
Justine Masson - Institut du Fer à Moulin
Publication Details: Brain - A Journal of Neurology , Vol.143(10), pp.2911-2928
Identifiers: 9940894709311
Academic Unit: Institut de Génomique Fonctionnelle - IGF
Language: French
Resource Type: Journal article
Local Fields: hal-04316191