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Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Schob C, Hempel M, Safka Brozkova D, Jiang H, Kim SY, Batzir NA, Orenstein N, Bierhals T, Johannsen J, Uhrova Meszarosova A, Chae JH, Seeman P, Woidy M, Fang F, Kubisch C, Kindler S, Denecke J. Schob C, et al. Among authors: seeman p. Ann Neurol. 2021 Nov;90(5):738-750. doi: 10.1002/ana.26228. Epub 2021 Oct 14. Ann Neurol. 2021. PMID: 34564892
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.
Šafka Brožková D, Laštůvková J, Machalová E, Lisoňová J, Trková M, Seeman P. Šafka Brožková D, et al. Among authors: seeman p. Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1681-4. doi: 10.1016/j.ijporl.2012.08.006. Epub 2012 Aug 27. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22951369
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J. Safka Brozkova D, et al. Among authors: seeman p. Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13. Brain. 2015. PMID: 26072516 Free PMC article.
548 results