The era of cryptic exons: implications for ALS-FTD

by Puja R. Mehta, Anna-Leigh Brown, Michael E. Ward, Pietro Fratta
Published 2023-03-01

Quantitative analysis of cryptic splicing associated with TDP-43 depletion

by Jack Humphrey, Warren Emmett, Pietro Fratta, Adrian M. Isaacs, Vincent Plagnol
Published 2017-05-01

A Comparison of Low Read Depth QuantSeq 3′ Sequencing to Total RNA-Seq in FUS Mutant Mice

by Seth Jarvis, Seth Jarvis, Nicol Birsa, Nicol Birsa, Maria Secrier, Pietro Fratta, Vincent Plagnol
Published 2020-11-01

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

by Yevgeniya A. Abramzon, Yevgeniya A. Abramzon, Pietro Fratta, Bryan J. Traynor, Bryan J. Traynor, Ruth Chia
Published 2020-02-01

Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes

by James N. Sleigh, Andrew P. Tosolini, David Gordon, Anny Devoy, Pietro Fratta, Elizabeth M.C. Fisher, Kevin Talbot, Giampietro Schiavo
Published 2020-03-01

Opinion: more mouse models and more translation needed for ALS

by Elizabeth M.C. Fisher, Linda Greensmith, Andrea Malaspina, Pietro Fratta, Michael G. Hanna, Giampietro Schiavo, Adrian M. Isaacs, Richard W. Orrell, Thomas J. Cunningham, Abraham Acevedo Arozena
Published 2023-05-01

NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease

by Alan Mejia Maza, Seth Jarvis, Weaverly Colleen Lee, Thomas J. Cunningham, Giampietro Schiavo, Maria Secrier, Pietro Fratta, James N. Sleigh, Elizabeth M. C. Fisher, Carole H. Sudre
Published 2021-06-01

Humoral response to neurofilaments and dipeptide repeats in ALS progression

by Fabiola Puentes, Vittoria Lombardi, Ching‐Hua Lu, Ozlem Yildiz, Pietro Fratta, Adrian Isaacs, Yoana Bobeva, Joanne Wuu, ALS Biomarker Consortium, CReATe Consortium, Michael Benatar, Andrea Malaspina
Published 2021-09-01

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects.

by Thomas Ricketts, Philip McGoldrick, Pietro Fratta, Hugo M de Oliveira, Rosie Kent, Vinaya Phatak, Sebastian Brandner, Gonzalo Blanco, Linda Greensmith, Abraham Acevedo-Arozena, Elizabeth M C Fisher
Published 2014-01-01

ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity

by Maria Giovanna Garone, Nicol Birsa, Maria Rosito, Federico Salaris, Michela Mochi, Valeria de Turris, Remya R. Nair, Thomas J. Cunningham, Elizabeth M. C. Fisher, Mariangela Morlando, Pietro Fratta, Alessandro Rosa
Published 2021-09-01

Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

by Urša Šušnjar, Neva Škrabar, Anna-Leigh Brown, Yasmine Abbassi, Hemali Phatnani, NYGC ALS Consortium, Andrea Cortese, Cristina Cereda, Enrico Bugiardini, Rosanna Cardani, Giovanni Meola, Michela Ripolone, Maurizio Moggio, Maurizio Romano, Maria Secrier, Pietro Fratta, Emanuele Buratti
Published 2022-04-01

G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo

by Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert‐Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie‐Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs
Published 2018-01-01

Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

by Oliver H. Tam, Nikolay V. Rozhkov, Regina Shaw, Duyang Kim, Isabel Hubbard, Samantha Fennessey, Nadia Propp, Delphine Fagegaltier, Brent T. Harris, Lyle W. Ostrow, Hemali Phatnani, John Ravits, Josh Dubnau, Molly Gale Hammell, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, Edward B. Lee, Vivianna M. Van Deerlin, Neil A. Shneider, Ernest Fraenkel, Lyle W. Ostrow, Frank Baas, Noah Zaitlen, James D. Berry, Andrea Malaspina, Pietro Fratta, Gregory A. Cox, Leslie M. Thompson, Steve Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos.A. Patsopoulos, Oleg Butovsky, Joshua Dubnau, Avindra Nath, Robert Bowser, Matt Harms, Eleonora Aronica, Mary Poss, Jennifer Phillips-Cremins, John Crary, Nazem Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, Marc Gotkine, Robert Baloh, Suma Babu, Towfique Raj, Sabrina Paganoni, Ophir Shalem, Colin Smith, Bin Zhang, Brent T. Harris
Published 2019-10-01

An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

by Jonathan Li, Ryan G. Lim, Julia A. Kaye, Victoria Dardov, Alyssa N. Coyne, Jie Wu, Pamela Milani, Andrew Cheng, Terri G. Thompson, Loren Ornelas, Aaron Frank, Miriam Adam, Maria G. Banuelos, Malcolm Casale, Veerle Cox, Renan Escalante-Chong, J. Gavin Daigle, Emilda Gomez, Lindsey Hayes, Ronald Holewenski, Susan Lei, Alex Lenail, Leandro Lima, Berhan Mandefro, Andrea Matlock, Lindsay Panther, Natasha Leanna Patel-Murray, Jacqueline Pham, Divya Ramamoorthy, Karen Sachs, Brandon Shelley, Jennifer Stocksdale, Hannah Trost, Mark Wilhelm, Vidya Venkatraman, Brook T. Wassie, Stacia Wyman, Stephanie Yang, Jennifer E. Van Eyk, Thomas E. Lloyd, Steven Finkbeiner, Ernest Fraenkel, Jeffrey D. Rothstein, Dhruv Sareen, Clive N. Svendsen, Leslie M. Thompson, Hemali Phatnani, PhD, Justin Kwan, MD, Dhruv Sareen, PhD, James R. Broach, PhD, Zachary Simmons, MD, Ximena Arcila-Londono, MD, Edward B. Lee, MD, PhD, Vivianna M. Van Deerlin, MD, PhD, Neil A. Shneider, MD, PhD, Ernest Fraenkel, PhD, Lyle W. Ostrow, MD, PhD, Frank Baas, MD, PhD, Noah Zaitlen, PhD, James D. Berry, MD, MPH, Andrea Malaspina, MD, PhD, Pietro Fratta, MD, PhD, Gregory A. Cox, PhD, Leslie M. Thompson, PhD, Steve Finkbeiner, MD, PhD, Efthimios Dardiotis, MD, PhD, Timothy M. Miller, MD, PhD, Siddharthan Chandran, PhD, Suvankar Pal, MD, Eran Hornstein, MD, PhD, Daniel J. MacGowan, MD, Terry Heiman-Patterson, MD, Molly G. Hammell, PhD, Nikolaos.A. Patsopoulos, MD, PhD, Oleg Butovsky, PhD, Joshua Dubnau, PhD, Avindra Nath, MD, Robert Bowser, PhD, Matt Harms, MD, Mary Poss, DVM, PhD, Jennifer Phillips-Cremins, PhD, John Crary, MD, PhD, Nazem Atassi, MD, Dale J. Lange, MD, Darius J. Adams, MD, Leonidas Stefanis, MD, PhD, Marc Gotkine, MD, Robert H. Baloh, MD. PhD, Suma Babu, MBBS, MPH, Towfique Raj, PhD, Sabrina Paganoni, MD, PhD, Ophir Shalem, PhD, Colin Smith, MD, Bin Zhang, PhD, Brent Harris, MD, PhD, Iris Broce, PhD, Vivian Drory, MD, John Ravits, MD, Corey McMillan, PhD, Vilas Menon, PhD, Lani Wu, PhD, Steven Altschuler, PhD
Published 2021-11-01