Author: Pietro Fratta

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Preprints

FUS ALS-causative mutations impact FUS autoregulation and the processing of RNA-binding proteins through intron retention

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  • Site-wide: 57,998

Quantitative analysis of cryptic splicing associated with TDP-43 depletion

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  • In genomics: 2,228
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  • Site-wide: 67,900

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

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ALS mice carrying pathological mutant TDP-43, but not mutant FUS, display axonal transport defects in vivo

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  • In neuroscience: 5,454
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NMJ-Analyser: high-throughput morphological screening of neuromuscular junctions identifies subtle changes in mouse neuromuscular disease models

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Plasma pNfH differentiate SBMA from ALS

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  • In neuroscience: 12,698
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Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity

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  • In neuroscience: 13,059
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  • Site-wide: 101,599

RNA-binding protein network alteration causes aberrant axon branching and growth phenotypes in FUS ALS mutant motoneurons

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  • In neuroscience: 13,376
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Neuregulin 1 type III reduces severity in a mouse model of Congenital Hypomyelinating Neuropathy

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A nonsense mutation in Myelin Protein Zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function

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  • In neuroscience: 13,747
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Immune reactivity to neurofilaments and dipeptide repeats in ALS progression

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  • In neuroscience: 15,672
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