Pietro Fratta

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Anna‐Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss et al. · Nature · 2022 · 471 citations · Full text

Mice with endogenous <scp>TDP</scp> ‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

Pietro Fratta, Prasanth Sivakumar, Jack Humphrey et al. · The EMBO Journal · 2018 · 180 citations · Full text

Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis

Ching‐Hua Lu, Kezia Allen, Felicia Oei et al. · Neurology Neuroimmunology & Neuroinflammation · 2016 · 166 citations · Full text

Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD

Sahba Seddighi, Yue Qi, Anna‐Leigh Brown et al. · Science Translational Medicine · 2024 · 134 citations · Full text

Genetics, Splicing Variant, Cryptic Exons +16

Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes

Jack Humphrey, Sanan Venkatesh, Rahat Hasan et al. · Nature Neuroscience · 2022 · 131 citations

Amyotrophic Lateral Sclerosis, Genetics, Integrative Transcriptomic Analysis +6