Laugel, Vincent

Top Publications

Top Publications Authored or Co-Authored by "Laugel, Vincent"

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: Implications for clinical management

  Neurogenetics, Volume 11, No. 1, Year 2010, Citations 168
• Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

  JAMA Neurology, Volume 75, No. 5, Year 2018, Citations 97
• Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

  Neuropediatrics, Volume 45, No. 6, Year 2014, Citations 70
• Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

  Journal of Neurology, Volume 263, No. 7, Year 2016, Citations 54