doc. MUDr. Petra Laššuthová, Ph.D.

Petra Laššuthová, PhD

Education

Thesis: Analysis of the LMNA gene and the SH3TC2 gene among Czech patients with hereditary neuropathy Charcot-Marie-Tooth type 1 and 2 (awarded Cena Josefa Hlavky, 2012)

Research Experience

Principal investigator for the grant project: Whole genome sequencing and RNA sequencing - a tool for elucidation of the causes of rare types of hereditary neuropathies. (Awarded by the Czech Ministry of Health, No. AZV 16-30206)

PhD students: Two PhD students successfully defended their thesis. 

Publications / 5 most relevant

1.            Lassuthova P, Rebelo AP, Ravenscroft G, et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. American Journal of Human Genetics. 2018;102(3):505-514.

2.            Lassuthova P, Brozkova DS, Krutova M, et al. Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. Brain. 2016;139.

11.          Lassuthova P, Brozkova DS, Krutova M, et al. Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. Orphanet Journal of Rare Diseases. 2016;11.

12.          Brozkova DS, Deconinck T, Griffin LB, et al. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain. 2015;138:2161-2172.

15.          Lassuthova P, Brozkova DS, Krutova M, et al. Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom. Neurogenetics. 2015;16(1):43-54.

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Awards & Grants