Scherer, Steven S.

Top Publications

Top Publications Authored or Co-Authored by "Scherer, Steven S."

• Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

  Brain, Volume 137, No. 1, Year 2014, Citations 149
• Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

  Nature Genetics, Volume 52, No. 5, Year 2020, Citations 94
• Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

  American Journal of Human Genetics, Volume 99, No. 3, Year 2016, Citations 45
• A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

  Annals of Neurology, Volume 86, No. 1, Year 2019, Citations 42