Stanescu, Horia C.

Top Publications

Top Publications Authored or Co-Authored by "Stanescu, Horia C."

• Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

  New England Journal of Medicine, Volume 360, No. 19, Year 2009, Citations 501
• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

  Nature Genetics, Volume 42, No. 2, Year 2010, Citations 290
• Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

  Annals of Neurology, Volume 73, No. 4, Year 2013, Citations 161
• Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome

  Journal of the American Society of Nephrology, Volume 30, No. 8, Year 2019, Citations 35
• A candidate gene for autoimmune myasthenia gravis.

  Neurology, Volume 79, No. 4, Year 2012, Citations 20