Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan, +26

Nature Genetics

Biallelic ExpansionNeurological DisorderGenetic DisorderIntronic RepeatLate-onset Ataxia +3

Unexpected expression of α- and β-globin in mesencephalic dopaminergic neurons and glial cells

Marta Biagioli, Milena Pinto, Daniela Cesselli, +17

Proceedings of the National Academy of Sciences

Linking promoters to functional transcripts in small samples with nanoCAGE and CAGEscan

Charles Plessy, Nicolas Bertin, Hazuki Takahashi, +21

Nature Methods

Transcriptional RegulationFunctional GenomicsNatural SciencesMolecular BiologyGene Regulation +10

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

Eleanna Kara, Helen Ling, Alan Pittman, +11

Neurobiology of Aging

Promoter architecture of mouse olfactory receptor genes

Charles Plessy, Giovanni Pascarella, Nicolas Bertin, +16

Genome Research

Mesencephalic dopaminergic neurons express a repertoire of olfactory receptors and respond to odorant-like molecules

Alice Grison, S. Zucchelli, Alice Urzì, +17

BMC Genomics

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

Roberto Simone, Faiza Javad, Warren Emmett, +31

Nature

Neurodegenerative DiseasesMolecular NeuroscienceAid ProteostasisNeuroscienceSmall Rna +4

Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Riccardo Ronco, Cecilia Perini, Riccardo Curró, +29

Neurology

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy

Andrea Cortese, Vincent Plagnol, Stefen Brady, +9

Neurobiology of Aging

GeneticsImmunologyPathologyTdp43 CauseSporadic Inclusion Body +15

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

Raffaele Ferrari, Mina Ryten, Roberto Simone, +10

Neurobiology of Aging