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Identification of a human population infected with simian foamy viruses

Walid Heneine
William M. Switzer
Thomas M. Folks
Research01 Apr 1998
Nature Medicine

Volume: 4, P: 403-407
Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome

Dravet syndrome is a devastating epileptic encephalopathy caused by Scn1a gene haploinsufficiency. Exploiting a novel knock-in mouse model, here the authors show that restoring Scn1a expression after symptom onset is sufficient to rescue main phenotypic manifestations of the syndrome.

Nicholas Valassina
Simone Brusco
Gaia Colasante
ResearchOpen Access10 Jan 2022
Nature Communications

Volume: 13, P: 1-18
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

In this largest whole-exome sequencing study of epilepsies to date, the Epi25 Collaborative identified extremely rare variants that confer risk for diverse epilepsy subtypes, highlighting roles in synaptic transmission and neuronal excitability.

Siwei Chen
Bassel W. Abou-Khalil
Samuel F. Berkovic
Research03 Oct 2024
Nature Neuroscience

Volume: 27, P: 1864-1879
CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants

Stefanie Lerche
Isabel Wurster
Kathrin Brockmann
ResearchOpen Access24 Oct 2024
npj Parkinson's Disease

Volume: 10, P: 1-6
Metal-free ribonucleotide reduction powered by a DOPA radical in Mycoplasma pathogens

A subclass of ribonucleotide reductase in Mycoplasma pathogens contains a stable radical formed from a modified tyrosine residue, overturning the presumed requirement for a dinuclear metal site in aerobic ribonucleotide reductase.

Vivek Srinivas
Hugo Lebrette
Martin Högbom
Research31 Oct 2018
Nature

Volume: 563, P: 416-420
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

German Demidov
Burcu Yaldiz
Steven Laurie
ResearchOpen Access26 Oct 2024
npj Genomic Medicine

Volume: 9, P: 1-24

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Identification of a human population infected with simian foamy viruses

Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants

Metal-free ribonucleotide reduction powered by a DOPA radical in Mycoplasma pathogens

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

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Identification of a human population infected with simian foamy viruses

Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants

Metal-free ribonucleotide reduction powered by a DOPA radical in Mycoplasma pathogens

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

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