Publications by authors named "P Lassuthova"

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Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.
Barbora Lauerova, Radim Mazanec, Katja Eggerman, Dana Safka Brozkova, Annette Lischka, Petra Lassuthova

Eur J Med Genet· December 2025

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Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.
Ilaria Quartesan, Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta

medRxiv· October 2025

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Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.
Alena Musilova, Petra Lassuthova, Anna Uhrova Meszarosova, Barbora Straka, Jana Krejcikova

Neurol Genet· August 2025

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Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.
J Robert Harkness, John H McDermott, Shea Marsden, Peter Jamieson, Kay A Metcalfe, Petra Lassuthova

Lancet Neurol· August 2025

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Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness.
Barbora Lauerova, Anezka Dolanska, Petra Lassuthova, Denisa Stanclova, Marie Rohlenova

Neuromuscul Disord· June 2025

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