Boespflüg-Tanguy, Odile

Top Publications

Top Publications Authored or Co-Authored by "Boespflüg-Tanguy, Odile"

• Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy

  American Journal of Human Genetics, Volume 89, No. 3, Year 2011, Citations 219
• Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

  Neurology, Volume 73, No. 12, Year 2009, Citations 114
• Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

  Neurology, Volume 61, No. 4, Year 2003, Citations 74
• Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

  Neuropediatrics, Volume 45, No. 6, Year 2014, Citations 70
• Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

  Human Mutation, Volume 30, No. 3, Year 2009, Citations 69