Publications scientifiques
Les chercheurs de l’IGBMC publient régulièrement leurs découvertes dans des revues scientifiques, reflet du dynamisme de notre institut.
Découvrez ici leurs dernières publications.
Publications
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2024
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Article dans une revue
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
- Viorica Chelban
- Henriette Aksnes
- Reza Maroofian
- Lauren C Lamonica
- Luis Seabra
- Anette Siggervåg
- Perrine Devic
- Hanan E Shamseldin
- Jana Vandrovcova
- David Murphy
- Anne-Claire Richard
- Olivier Quenez
- Antoine Bonnevalle
- M. Natalia Zanetti
- Rauan Kaiyrzhanov
- Vincenzo Salpietro
- Stephanie Efthymiou
- Lucia V Schottlaender
- Heba Morsy
- Annarita Scardamaglia
- ...
Nature Communications ; Volume: 15 ; Page: 2269
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Article dans une revue
Anti-RGS8 paraneoplastic cerebellar ataxia is preferentially associated with a particular subtype of Hodgkin’s lymphoma
- Elise Peter
- Nicolas Lundahl Ciano-Petersen
- Le-Duy Do
- Jimmy Perrot
- Thomas Ngo
- John Pluvinage
- Christopher Bartley
- Kelsey Zorn
- Ramona Miske
- Madeleine Scharf
- Macarena Villagrán-García
- Antonio Farina
- Véronique Rogemond
- Jean-Christophe Antoine
- Christine Tranchant
- Valérie Dubois
- Joseph Derisi
- Samuel Pleasure
- Michael Wilson
- Jeffrey Gelfand
- ...
Journal of Neurology ; Volume: 271 ; Page: 6839-6846
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Article dans une revue
Integrated Experimental and Theoretical Investigation of Copper Active Site Properties of a Lytic Polysaccharide Monooxygenase from Serratia marcescens
- Alessia Munzone
- Manon Pujol
- Chris Joseph
- Ievgen Mazurenko
- Marius Réglier
- Sergio Jannuzzi
- Antoine Royant
- Giuseppe Sicoli
- Serena Debeer
- Maylis Orio
- A. Jalila Simaan
- Christophe Decroos
Inorganic Chemistry ; Page: Online ahead of print
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Article dans une revue
i-Dent: A virtual assistant to diagnose rare genetic dental diseases
- Hocine Kadi
- Marzena Kawczynski
- Sara Bendjama
- Jesus Zegarra Flores
- Audrey Leong-Hoi
- Hugues de Lastic
- Julien Balbierer
- Claire Mabileau
- Jean Pierre Radoux
- Bruno Grollemund
- Jean Jaegle
- Christophe Guébert
- Bertrand Bisch
- Agnès Bloch-Zupan
Computers in Biology and Medicine ; Volume: 180 ; Page: 108927
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Article dans une revue
A high-light therapy restores the circadian clock and corrects the pathological syndrome generated in restricted-fed mice
- Manohar Damara
- Nisha Misra
- Pierre Chambon
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 121
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Article dans une revue
Acutely Modifying Phosphatidylinositol Phosphates on Endolysosomes Using Chemically Inducible Dimerization Systems
- Wei Sheng Yap
- Peter K Kim
- Maxime Boutry
Bio-protocol ; Volume: 14
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Article dans une revue
Repurposing myoglobin into a carbene transferase for a [2,3]-sigmatropic Sommelet-Hauser rearrangement
- Manon Pujol
- Lison Degeilh
- Thibault Sauty de Chalon
- Marius Réglier
- A. Jalila Simaan
- Christophe Decroos
Journal of Inorganic Biochemistry ; Volume: 260 ; Page: 112688
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2023
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Article dans une revue
How much do we know about the function of mammalian genes?
- Lydia Teboul
- Yann Hérault
- Sara Wells
- Guillaume Pavlovic
BMC Biology ; Volume: 21
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Pré-publication, Document de travail
Bi-allelic variants in WDR47 lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans
- Efil Bayam
- Peggy Tilly
- Stephan Collins
- José Rivera Alvarez
- Meghna Kannan
- Lucile Tonneau
- Bruno Rinaldi
- Romain Lecat
- Noémie Schwaller
- Sateesh Maddirevula
- Fabiola Monteiro
- João Paulo Kitajima
- Fernando Kok
- Mitsuhiro Kato
- Ahlam Hamed
- Mustafa Salih
- Saeed Al Tala
- Mais Hashem
- Hiroko Tada
- Hirotomo Saitsu
- ...
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Article dans une revue
Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation
- Laura Vanden Brande
- Stéphanie Bauché
- Laura Pérez-Guàrdia
- Damien Sternberg
- Andreea Seferian
- Edoardo Malfatti
- Roberto Silva-Rojas
- Clémence Labasse
- Frédéric Chevessier
- Pierre Carlier
- Bruno Eymard
- Norma Romero
- Jocelyn Laporte
- Laurent Servais
- Teresa Gidaro
- Johann Böhm
Neuropathology and Applied Neurobiology ; Volume: 50
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