Publications by authors named "R Mazanec"
Article Synopsis
- * Researchers assessed 88 ALS patients for hexanucleotide repeat expansion in the C9orf72 gene and other known ALS-linked genes using next-generation sequencing.
- * Results showed 13.5% had pathogenic HRE in C9orf72, and unexpected findings included no pathogenic variants in young-onset sporadic patients, suggesting potential genetic variability that remains unexplored.
Background: Drought adaptation is critical to many tree species persisting under climate change, however our knowledge of the genetic basis for trees to adapt to drought is limited. This knowledge gap impedes our fundamental understanding of drought response and application to forest production and conservation. To improve our understanding of the genomic determinants, architecture, and trait constraints, we assembled a reference genome and detected ~ 6.
View Article and Find Full Text PDFArticle Synopsis
- Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are rare disorders affecting sensory and autonomic neurons, making them hard to study due to limited data.
- A large international study identified 80 new pathogenic variants in 73 families across known CIP/HSAN-related genes, expanding knowledge on these diseases.
- Advanced methodologies like in silico predictions and metabolic tests improved variant classification, crucial for guiding future gene-specific treatments in clinical trials.
Limb girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of muscular dystrophies. The study presents an overview of molecular characteristics of a large cohort of LGMD patients who are representative of the Czech LGMD population. We present 226 LGMD probands in which 433 mutant alleles carrying 157 different variants with a supposed pathogenic effect were identified.
View Article and Find Full Text PDFMisdiagnosis is frequent in early motor neuron disease (MND), typically compressive radiculopathy, or in patients with restricted MND phenotype. In this retrospective, single tertiary centre study, we measured levels of neurofilament light (NfL) and phosphorylated neurofilament heavy (p-NfH) chain in cerebrospinal fluid (CSF) and of p-NfH in serum with commercially available ELISA kits and assessed their respective diagnostic performance as a marker of MND. The entire study population (n = 164) comprised 71 MND patients, 30 patients with compressive myelo- or radiculopathy, and 63 disease controls (DC).
View Article and Find Full Text PDF