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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Sandrine Passemard , Luigi Titomanlio , Monique Elmaleh , Alexandra Afenjar , Jean-Luc Alessandri , et al.
Neurology, 2009, 73 (12), pp.962-9. ⟨10.1212/WNL.0b013e3181b8799a⟩
Journal articles inserm-00420406v1

Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning

N. Michalski , V. Michel , A. Bahloul , G. Lefevre , J. Barral , et al.
Journal of Neuroscience, 2007, 27 (24), pp.6478-6488. ⟨10.1523/JNEUROSCI.0342-07.2007⟩
Journal articles hal-03771502v1

Conditional knock-out reveals that zygotic vezatin-null mouse embryos die at implantation

Vincent Hyenne , Céline Souilhol , Michel Cohen-Tannoudji , Silvia Cereghini , Christine Petit , et al.
Mechanisms of Development, 2007, 124 (6), pp.449-462. ⟨10.1016/j.mod.2007.03.004⟩
Journal articles pasteur-02075502v1

Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses

Isabelle Roux , Suzanne Hosie , Stuart Johnson , Amel Bahloul , Nadège Cayet , et al.
Human Molecular Genetics, 2009, 18 (23), pp.4615-4628. ⟨10.1093/hmg/ddp429⟩
Journal articles hal-04159601v1

[Chapter 8] Mouse Models for Human Hereditary Deafness

Michel Leibovici , Saaid Safieddine , Christine Petit
Mouse Models of Developmental Genetic Disease, 84, Elsevier, pp.385-429, 2008, Current Topics in Developmental Biology, 978-0-12-374454-8. ⟨10.1016/S0070-2153(08)00608-X⟩
Book sections hal-04159604v1

Twelve new patients with 13q deletion syndrome: Genotype-phenotype analyses in progress.

Chloé Quélin , Claude Bendavid , Christèle Dubourg , Céline de La Rochebrochard , Josette Lucas , et al.
European Journal of Medical Genetics, 2009, 52 (1), pp.41-6. ⟨10.1016/j.ejmg.2008.10.002⟩
Journal articles istex inserm-00353241v1

Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.

Amel Bahloul , Marie-Christine Simmler , Vincent Michel , Michel Leibovici , Isabelle Perfettini , et al.
EMBO Molecular Medicine, 2009, 1 (2), pp.125-38. ⟨10.1002/emmm.200900015⟩
Journal articles hal-00477439v1

Connexin30 deficiency causes instrastrial fluid–blood barrier disruption within the cochlear stria vascularis

Martine Cohen-Salmon , Béatrice Regnault , Nadège Cayet , Dorothée Caille , Karine Demuth , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007, 104 (15), pp.6229-6234. ⟨10.1073/pnas.0605108104⟩
Journal articles hal-04027329v1