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 …
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. …
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 …
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
Molecular diversity of surface receptors has been hypothesized to provide a mechanism for
selective synaptic connectivity. Neurexins are highly diversified receptors that drive the …
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 …
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 …
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 …
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) …
by regulating the cell-surface expression and function of the epithelial sodium channel (ENaC) …
High‐resolution community profiling of arbuscular mycorrhizal fungi
Community analyses of arbuscular mycorrhizal fungi ( AMF ) using ribosomal small subunit
( SSU ) or internal transcribed spacer ( ITS ) DNA sequences often suffer from low resolution …
( 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-…
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-…
deficiency. The histone deacetylase SIRT1 plays an essential role in modulating several age-…