Goizet, Cyril

Top Publications

Top Publications Authored or Co-Authored by "Goizet, Cyril"

• 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
• Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

  Brain, Volume 132, No. 10, Year 2009, Citations 218
• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

  Brain, Volume 131, No. 3, Year 2008, Citations 213
• Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

  American Journal of Human Genetics, Volume 82, No. 4, Year 2008, Citations 199
• Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: A clinical and genetic study in 18 patients

  Brain, Volume 127, No. 4, Year 2004, Citations 191