Petra Lassuthova

Petra Lassuthova

Charles University in Prague - Prague / Czech Republic
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1507868
Charles University
person_outline Petra Lassuthova's MOST POPULAR ARTICLES
1-) Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individualsYCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...The American Journal of Human Genetics 105 (2), 267-282, 20191512019
2-) HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyondC Marini, A Porro, A Rastetter, C Dalle, I Rivolta, D Bauer, R Oegema, ...Brain 141 (11), 3160-3178, 2018922018
3-) Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ...Brain 145 (9), 2991-3009, 20221042022
4-) Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathiesD Safka Brozkova, T Deconinck, L Beth Griffin, A Ferbert, J Haberlova, ...Brain 138 (8), 2161-2172, 20151052015
5-) PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literatureMRF Reijnders, R Janowski, M Alvi, JE Self, TJ Van Essen, M Vreeburg, ...Journal of medical genetics 55 (2), 104-113, 2018872018