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authFullName_s : Nicolas Lebrun
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

Karine Poirier , Nicolas Lebrun , Loic Broix , Guoling Tian , Yoann Saillour , et al.
Nature Genetics, 2013, 45 (6), pp.639-47. ⟨10.1038/ng.2613⟩
Journal articles inserm-00838073v1
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RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome

Léo Mietton , Nicolas Lebrun , Irina Giurgea , Alice Goldenberg , Benjamin Saintpierre , et al.
NeuroMolecular Medicine, 2018, 20 (3), pp.409-417. ⟨10.1007/s12017-018-8502-1⟩
Journal articles inserm-03798407v1

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development

Loïc Broix , Laure Asselin , Carla Silva , Ekaterina Ivanova , Peggy Tilly , et al.
Human Molecular Genetics, 2018, 27 (2), pp.224-238. ⟨10.1093/hmg/ddx384⟩
Journal articles hal-03825521v1
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Hippocampal Excitatory Synaptic Transmission and Plasticity Are Differentially Altered during Postnatal Development by Loss of the X-Linked Intellectual Disability Protein Oligophrenin-1

Noemie Cresto , Nicolas Lebrun , Florent Dumont , Franck Letourneur , Pierre Billuart , et al.
Cells, 2022, 11 (9), pp.1545. ⟨10.3390/cells11091545⟩
Journal articles inserm-03684170v1

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

Caroline Nava , Johanna Rupp , Jean-Paul Boissel , Cyril Mignot , Agnès Rastetter , et al.
Amino Acids, 2015, 47 (12), pp.2647-2658. ⟨10.1007/s00726-015-2057-3⟩
Journal articles hal-01191525v1

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

Karine Poirier , Yoann Saillour , Nadia Bahi-Buisson , Xavier Jaglin , Catherine Fallet-Bianco , et al.
Human Molecular Genetics, 2010, 19 (22), pp.4462-4473. ⟨10.1093/hmg/ddq377⟩
Journal articles hal-04050252v1

Molecular and cellular issues of kmt2a variants involved in wiedemann-steiner syndrome

Nicolas Lebrun , Alexandra Afenjar , Irina Giurgea , Alice Goldenberg , Anne Dieux , et al.
European Journal of Human Genetics, 2018, European journal of human genetics EJHG, 26 (1), pp.107-116. ⟨10.1038/s41431-017-0033-y⟩
Journal articles hal-03351319v1
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MeCP2 is involved in random mono-allelic expression for a subset of human autosomal genes

Marine Brousseau , Juliette Nectoux , Benjamin Saintpierre , Nicolas Lebrun , Nicolas Cagnard , et al.
Biochimica et Biophysica Acta - Molecular Basis of Disease, 2020, 1866 (6), pp.165730. ⟨10.1016/j.bbadis.2020.165730⟩
Journal articles inserm-02571291v1
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Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

Mariana Ramos-Brossier , Caterina Montani , Nicolas Lebrun , Laura Gritti , Christelle Martin , et al.
Human Molecular Genetics, 2014, pp.523
Journal articles inserm-01102927v1
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Ghrelin Gene Deletion Alters Pulsatile Growth Hormone Secretion in Adult Female Mice

Rim Hassouna , Gimena Fernandez , Nicolas Lebrun , Oriane Fiquet , Ferdinand Roelfsema , et al.
Frontiers in Endocrinology, 2021, 12, pp.754522. ⟨10.3389/fendo.2021.754522⟩
Journal articles hal-03417139v1