关注
Petra Lassuthova
Petra Lassuthova
在 lfmotol.cuni.cz 的电子邮件经过验证
标题
引用次数
引用次数
年份
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2642019
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
C Marini, A Porro, A Rastetter, C Dalle, I Rivolta, D Bauer, R Oegema, ...
Brain 141 (11), 3160-3178, 2018
1252018
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ...
Brain 145 (9), 2991-3009, 2022
1142022
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
D Safka Brozkova, T Deconinck, L Beth Griffin, A Ferbert, J Haberlova, ...
Brain 138 (8), 2161-2172, 2015
1052015
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
MRF Reijnders, R Janowski, M Alvi, JE Self, TJ Van Essen, M Vreeburg, ...
Journal of medical genetics 55 (2), 104-113, 2018
862018
Mutations in ATP1A1 cause dominant Charcot-Marie-Tooth type 2
P Lassuthova, AP Rebelo, G Ravenscroft, PJ Lamont, MR Davis, ...
The American Journal of Human Genetics 102 (3), 505-514, 2018
832018
High frequency of SH3TC2 mutations in Czech HMSN I patients
P Laššuthová, R Mazanec, P Vondráček, D Šišková, J Haberlova, ...
Clinical genetics 80 (4), 334-345, 2011
642011
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ...
Brain 143 (7), 2106-2118, 2020
632020
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C Mignot, AC McMahon, C Bar, PM Campeau, C Davidson, J Buratti, ...
Genetics in Medicine 21 (4), 837-849, 2019
622019
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom
P Laššuthová, DŠ Brožková, M Krůtová, J Neupauerova, J Haberlova, ...
Neurogenetics 16, 43-54, 2015
542015
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
P Laššuthová, D Šafka Brožková, M Krůtová, J Neupauerová, J Haberlová, ...
Orphanet journal of rare diseases 11, 1-10, 2016
532016
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ...
The American Journal of Human Genetics 108 (6), 965-982, 2021
452021
Monitoring of methylation changes in 9p21 region in patients with myelodysplastic syndromes and acute myeloid leukemia
H Cechova, L Lassuthova, Petra, Novakova, M Belickova, ...
Neoplasma 59 (2), 168-174, 2012
382012
Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations
P Sancho, L Bartesaghi, O Miossec, F Garcia-Garcia, L Ramirez-Jimenez, ...
Human Molecular Genetics 28 (10), 1629-1644, 2019
362019
Genetic pain loss disorders
A Lischka, P Lassuthova, A Çakar, CJ Record, J Van Lent, J Baets, ...
Nature Reviews Disease Primers 8 (1), 41, 2022
342022
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life
D Staněk, P Laššuthová, K Štěrbová, M Vlčková, J Neupauerová, ...
Orphanet Journal of Rare Diseases 13, 1-8, 2018
322018
Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene
P Laššuthová, D Šafka Brožková, M Krůtová, R Mazanec, S Züchner, ...
Brain 139 (4), e26-e26, 2016
312016
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
J Senderek, P Lassuthova, D Kabzińska, L Abreu, J Baets, C Beetz, ...
Neurology 95 (24), e3163-e3179, 2020
282020
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
SP Marková, DŠ Brožková, P Laššuthová, A Mészárosová, M Krůtová, ...
Genetic Testing and Molecular Biomarkers 22 (2), 127-134, 2018
282018
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children–frequent and underestimated cause of disability among Czech Gypsies
P Lassuthova, D Šišková, J Haberlová, I Sakmaryová, A Filouš, P Seeman
Orphanet Journal of Rare Diseases 9, 1-10, 2014
262014
系统目前无法执行此操作,请稍后再试。
文章 1–20