Experts and Doctors on cerebellar diseases in Strasbourg, Alsace Champagne Ardenne Lorraine, France

Summary

Locale: Strasbourg, Alsace Champagne Ardenne Lorraine, France
Topic: cerebellar diseases

Top Publications

  1. Ivanova E, Mau Them F, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, et al. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017;101:428-440 pubmed publisher
    ..We propose that mutations in TBC1D23 are responsible for a form of PCH with small, normally proportioned cerebellum and should be screened in individuals with syndromic pontocereballar hypoplasia. ..

Scientific Experts