Scientific publications
Publications
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2024
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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
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The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders
- Lizan Stinissen
- Sietse Bouma
- Johann Böhm
- Jeno van Tienen
- Holger Fischer
- Zak Hughes
- Anne Lennox
- Erin Ward
- Marie Wood
- A Reghan Foley
- Wija Oortwijn
- Heinz Jungbluth
- Nicol C Voermans
Neuromuscular Disorders ; Volume: 38 ; Page: 1-7
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Time-resolved crystallography of boric acid binding to the active site serine of the β-lactamase CTX-M-14 and subsequent 1,2-diol esterification
- Andreas Prester
- Markus Perbandt
- Marina Galchenkova
- Dominik Oberthuer
- Nadine Werner
- Alessandra Henkel
- Julia Maracke
- Oleksandr Yefanov
- Johanna Hakanpää
- Guillaume Pompidor
- Jan Meyer
- Henry Chapman
- Martin Aepfelbacher
- Winfried Hinrichs
- Holger Rohde
- Christian Betzel
Communications Chemistry ; Volume: 7 ; Page: 152
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Structural basis of DNA crossover capture by Escherichia coli DNA gyrase
- Marlène Vayssières
- Nils Marechal
- Long Yun
- Brian Lopez Duran
- Naveen Kumar Murugasamy
- Jonathan Fogg
- Lynn Zechiedrich
- Marc Nadal
- Valérie Lamour
Science ; Volume: 384 ; Page: 227-232
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High risk of lung cancer in surfactant-related gene variant carriers
- Alexandre Brudon
- Marie Legendre
- Arthur Mageau
- Julien Bermudez
- Philippe Bonniaud
- Diane Bouvry
- Jacques Cadranel
- Aurélie Cazes
- Bruno Crestani
- Tristan Degot
- Céline Delestrain
- Rémi Diesler
- Ralph Epaud
- Quentin Philippot
- Nathalie Theou-Anton
- Caroline Kannengiesser
- Ibrahima Ba
- Marie-Pierre Debray
- Pascale Fanen
- Efrosine Manali
- ...
European Respiratory Journal ; Volume: 63 ; Page: 2301809
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Speech and language in DDX3X ‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention
- Elana J Forbes
- Lottie D Morison
- Fatma Lelik
- Tegan Howell
- Simone Debono
- Himanshu Goel
- Pauline Burger
- Jean‐louis Mandel
- David Geneviève
- David J Amor
- Angela T Morgan
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
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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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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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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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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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