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Structure: Internal structure identifier : 246144
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A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

Myriam Vezain , Matthieu Lecuyer , Marina Rubio , Valérie Dupé , Leslie Ratié et al.
Acta Neuropathologica Communications, 2018, 6 (1), pp.109. ⟨10.1186/s40478-018-0610-5⟩
Journal articles hal-01903168v1
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The environmental carcinogen benzo[a]pyrene induces a Warburg-like metabolic reprogramming dependent on NHE1 and associated with cell survival

Kevin Hardonnière , Elise Saunier , Anthony Lemarié , Morgane Fernier , Isabelle Gallais et al.
Scientific Reports, 2016, 6 (1), pp.30776. ⟨10.1038/srep30776⟩
Journal articles hal-01359569v1

Ostéopathies fragilisantes, maladie rénale chronique, malabsorptions, anomalies biologiques du métabolisme phosphocalcique : les bonnes indications pour un remboursement raisonné du dosage de vitamine D

Jean-Claude Souberbielle , Claude-Laurent Benhamou , Bernard Cortet , Mickael Rousière , Christian Roux et al.
Annales de Biologie Clinique, 2014, 72 (4), pp.385-389. ⟨10.1684/abc.2014.0972⟩
Journal articles hal-01225515v1

A Novel RAB33B Mutation in Smith-McCort Dysplasia

Nina Dupuis , Sophie Lebon , Manoj Kumar , Séverine Drunat , Luitgard Graul-Neumann et al.
Human Mutation, 2013, 34 (2), pp.283-286. ⟨10.1002/humu.22235⟩
Journal articles hal-02342666v1

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne , Caroline Nava , Boris Keren , Solveig Heide , Agnès Rastetter et al.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Journal articles hal-01502135v1

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Xavier Ayrignac , Clarisse Carra Dallière , Nicolas Menjot de Champfleur , Christian Denier , Patrick Aubourg et al.
Brain - A Journal of Neurology , 2015, 138 (Pt 2), pp.284-92. ⟨10.1093/brain/awu353⟩
Journal articles hal-01138578v1
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P. L. Marsh , Delphine Héron , Timothy J. Edwards , Angélique Quartier , Charles Galea et al.
Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩
Journal articles hal-01502133v1

In vitro assessment of mitochondrial toxicity to predict drug-induced liver injury

M. Porceddu , N. Buron , P. Rustin , B. Fromenty , A. Borgne-Sanchez et al.
In vitro assessment of mitochondrial toxicity to predict drug-induced liver injury, 9781493976768, Humana Press Inc., pp.283-300, 2018, Methods in Pharmacology and Toxicology, 978-1-4939-7677-5; 978-1-4939-7676-8. ⟨10.1007/978-1-4939-7677-5_14⟩
Book sections hal-01777715v1
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KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

Mathieu Kuchenbuch , Giulia Barcia , Nicole Chemaly , Emilie Carme , Agathe Roubertie et al.
Brain - A Journal of Neurology , 2019, 142 (10), pp.2996-3008. ⟨10.1093/brain/awz240⟩
Journal articles hal-02304375v1

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

Salima El Chehadeh , Laurence Faivre , Anne-Laure Mosca-Boidron , Valérie Malan , Jeanne Amiel et al.
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
Journal articles istex hal-01237099v1
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Brief summary of French guidelines for the prevention, diagnosis and treatment of hospital-acquired pneumonia in ICU

Marc Leone , Lila Bouadma , Belaïd Bouhemad , Olivier Brissaud , Stéphane Dauger et al.
Annals of Intensive Care, 2018, 8 (1), pp.104. ⟨10.1186/s13613-018-0444-0⟩
Journal articles hal-01913318v1