Kuntzer, Thierry

Top Publications

Top Publications Authored or Co-Authored by "Kuntzer, Thierry"

• Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

  American Journal of Human Genetics, Volume 85, No. 2, Year 2009, Citations 159
• Early onset collagen VI myopathies: Genetic and clinical correlations

  Annals of Neurology, Volume 68, No. 4, Year 2010, Citations 115
• Implication of folate deficiency in CYP2U1 loss of function

  Journal of Experimental Medicine, Volume 218, No. 11, Article e20210846, Year 2021, Citations 48
• Clinical, biomarker, and molecular delineations and genotype-Phenotype correlations of ataxia with oculomotor apraxia type 1

  JAMA Neurology, Volume 75, No. 4, Year 2018, Citations 43
• Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: Exclusion of candidate genes including EGR1

  European Journal of Human Genetics, Volume 7, No. 8, Year 1999, Citations 13