Stéphane Blanchard
Institut Pasteur(FR)Université Paris Cité(FR)Laboratoire de Biologie Physico-Chimique des Protéines Membranaires(FR)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Pluripotent Stem Cells Research, RNA and protein synthesis mechanisms, Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Defective myosin VIIA gene responsible for Usher syndrome type IB(1995)1,065 cited
- → A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C(2000)466 cited
- → The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene(1997)424 cited
- → Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31(2003)339 cited
- → A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q(1994)276 cited
- → Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome(1993)205 cited