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


Locale: Strasbourg, Alsace Champagne Ardenne Lorraine, France
Topic: neuroblastoma

Top Publications

  1. Robert I, Quirin Stricker C. A novel untranslated 'exon H' of the human choline acetyltransferase gene in placenta. J Neurochem. 2001;79:9-16 pubmed
    ..These data may be possibly explained by the presence of a placenta specific promoter in the ChAT gene, which might be the proximal promoter P1. ..
  2. 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. ..