The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy

MD Fusco, A Becchetti, A Patrignani, G Annesi… - Nature …, 2000 - nature.com
Clustered attacks of epileptic episodes originating from the frontal lobe during sleep are the
main symptoms of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE, MIM …

Circadian behavior is light-reprogrammed by plastic DNA methylation

…, A Casserly, H Rehrauer, A Patrignani… - Nature …, 2014 - nature.com
The timing of daily circadian behavior can be highly variable among different individuals, and
twin studies have suggested that about half of this variability is environmentally controlled. …

[HTML][HTML] A comprehensive examination of Nanopore native RNA sequencing for characterization of complex transcriptomes

…, A Bratus-Neuenschwander, A Patrignani… - Nature …, 2019 - nature.com
A platform for highly parallel direct sequencing of native RNA strands was recently described
by Oxford Nanopore Technologies, but despite initial efforts it remains crucial to further …

[PDF][PDF] Targeted combinatorial alternative splicing generates brain region-specific repertoires of neurexins

…, TM Nguyen, G Russo, S Heber, A Patrignani… - Neuron, 2014 - cell.com
Molecular diversity of surface receptors has been hypothesized to provide a mechanism for
selective synaptic connectivity. Neurexins are highly diversified receptors that drive the …

Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: a newly recognized epilepsy syndrome with linkage to …

R Guerrini, P Bonanni, A Patrignani, P Brown… - Brain, 2001 - academic.oup.com
We describe a pedigree in which eight individuals presented with a non-progressive disorder
with onset between the ages of 12 and 50 years. It was characterized by predominantly …

[HTML][HTML] Genome expansion and lineage-specific genetic innovations in the forest pathogenic fungi Armillaria

…, L Kredics, C Vágvölgyi, A Patrignani… - Nature ecology & …, 2017 - nature.com
Armillaria species are both devastating forest pathogens and some of the largest terrestrial
organisms on Earth. They forage for hosts and achieve immense colony sizes via …

Early aldosterone-induced gene product regulates the epithelial sodium channel by deubiquitylation

…, F Fouladkou, A Patrignani… - Journal of the …, 2007 - journals.lww.com
The mineralocorticoid hormone aldosterone controls sodium reabsorption and BP largely
by regulating the cell-surface expression and function of the epithelial sodium channel (ENaC) …

High‐resolution community profiling of arbuscular mycorrhizal fungi

…, SF Bender, F Mascher, G Russo, A Patrignani… - New …, 2016 - Wiley Online Library
Community analyses of arbuscular mycorrhizal fungi ( AMF ) using ribosomal small subunit
( SSU ) or internal transcribed spacer ( ITS ) DNA sequences often suffer from low resolution …

Full-length haplotype reconstruction to infer the structure of heterogeneous virus populations

…, B Joos, MR Lecca, A Patrignani… - Nucleic acids …, 2014 - academic.oup.com
Next-generation sequencing (NGS) technologies enable new insights into the diversity of
virus populations within their hosts. Diversity estimation is currently restricted to single-…

[PDF][PDF] Identification of a SIRT1 mutation in a family with type 1 diabetes

…, C Brorsson, K Timper, G Leibowitz, A Patrignani… - Cell metabolism, 2013 - cell.com
Type 1 diabetes is caused by autoimmune-mediated β cell destruction leading to insulin
deficiency. The histone deacetylase SIRT1 plays an essential role in modulating several age-…