Hasil Pencarian - Pietro Fratta

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  1. 1
    Quantitative analysis of cryptic splicing associated with TDP-43 depletion

    Quantitative analysis of cryptic splicing associated with TDP-43 depletion oleh Jack Humphrey, Warren Emmett, Pietro Fratta, Adrian M. Isaacs, Vincent Plagnol

    Diterbitkan 2017-05-01
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  2. 2
    The era of cryptic exons: implications for ALS-FTD

    The era of cryptic exons: implications for ALS-FTD oleh Puja R. Mehta, Anna-Leigh Brown, Michael E. Ward, Pietro Fratta

    Diterbitkan 2023-03-01
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  3. 3
    A Comparison of Low Read Depth QuantSeq 3′ Sequencing to Total RNA-Seq in FUS Mutant Mice

    A Comparison of Low Read Depth QuantSeq 3′ Sequencing to Total RNA-Seq in FUS Mutant Mice oleh Seth Jarvis, Seth Jarvis, Nicol Birsa, Nicol Birsa, Maria Secrier, Pietro Fratta, Vincent Plagnol

    Diterbitkan 2020-11-01
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  4. 4
    The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

    The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia oleh Yevgeniya A. Abramzon, Yevgeniya A. Abramzon, Pietro Fratta, Bryan J. Traynor, Bryan J. Traynor, Ruth Chia

    Diterbitkan 2020-02-01
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  5. 5
    Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes

    Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes oleh James N. Sleigh, Andrew P. Tosolini, David Gordon, Anny Devoy, Pietro Fratta, Elizabeth M.C. Fisher, Kevin Talbot, Giampietro Schiavo

    Diterbitkan 2020-03-01
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  6. 6
    Opinion: more mouse models and more translation needed for ALS

    Opinion: more mouse models and more translation needed for ALS oleh 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

    Diterbitkan 2023-05-01
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  7. 7
    NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease

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

    Diterbitkan 2021-06-01
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  8. 8
    Humoral response to neurofilaments and dipeptide repeats in ALS progression

    Humoral response to neurofilaments and dipeptide repeats in ALS progression oleh 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

    Diterbitkan 2021-09-01
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  9. 9
    A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects.

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

    Diterbitkan 2014-01-01
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  10. 10
    ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity

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

    Diterbitkan 2021-09-01
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  11. 11
    Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

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

    Diterbitkan 2022-04-01
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  12. 12
    G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo

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

    Diterbitkan 2017-11-01
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  13. 13
    Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

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

    Diterbitkan 2019-10-01
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  14. 14
    An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

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

    Diterbitkan 2021-11-01
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