Bibliotecas PUC-SP - Busca Integrada

State-of-the-art Advances in Duchenne Muscular Dystrophy

Por Henriette Van Ruiten, Katherine Bushby, Michela Guglieri
Publicado no European Medical Journal (2017-03-01)

Editorial: Lessons Learned from Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation

Por Anna G. Mayhew, Leslie Nelson, Michela Guglieri, Tracey Willis
Publicado no Frontiers in Genetics (2022-07-01)

Association between neurodevelopmental impairments and motor function in Duchenne muscular dystrophy

Por Mathula Thangarajh, Michael P. McDermott, Michela Guglieri, Robert C. Griggs
Publicado no Annals of Clinical and Translational Neurology (2023-12-01)

Natural history of Duchenne muscular dystrophy in the United Kingdom: A descriptive study using the Clinical Practice Research Datalink

Por Jonathan Broomfield, Keith Abrams, Nick Latimer, Michela Guglieri, Mark Rutherford, Michael Crowther
Publicado no Brain and Behavior (2023-12-01)

Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy.

Por Francesco Muntoni, Joana Domingos, Adnan Y Manzur, Anna Mayhew, Michela Guglieri, UK NorthStar Network, Gautam Sajeev, James Signorovitch, Susan J Ward
Publicado no PLoS ONE (2019-01-01)

Is ongoing testosterone required after pubertal induction in Duchenne muscular dystrophy?

Por Claire L Wood, Kieren G Hollingsworth, Edrina Bokaie, Eric Hughes, Robert Muni-Lofra, Anna Mayhew, Rod T Mitchell, Michela Guglieri, Joseph McElvaney, Timothy D Cheetham, Volker Straub
Publicado no Endocrine Connections (2023-10-01)

Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy

Por Sarah P. Sherlock, Jeffrey Palmer, Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Cuixia Tian, Jean K. Mah, Francesco Muntoni, Michela Guglieri, Russell J. Butterfield, Lawrence Charnas, Shannon Marraffino
Publicado no Scientific Reports (2022-11-01)

Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy.

Por Irina T Zaharieva, Mattia Calissano, Mariacristina Scoto, Mark Preston, Sebahattin Cirak, Lucy Feng, James Collins, Ryszard Kole, Michela Guglieri, Volker Straub, Kate Bushby, Alessandra Ferlini, Jennifer E Morgan, Francesco Muntoni
Publicado no PLoS ONE (2013-01-01)

Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial

Por Francesco Muntoni, Michela Guglieri, Jean K. Mah, Kathryn R. Wagner, John F. Brandsema, Russell J. Butterfield, Craig M. McDonald, Anna G. Mayhew, Jeffrey P. Palmer, Shannon Marraffino, Lawrence Charnas, Eugenio Mercuri
Publicado no PLoS ONE (2022-01-01)

Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial.

Por Francesco Muntoni, Michela Guglieri, Jean K Mah, Kathryn R Wagner, John F Brandsema, Russell J Butterfield, Craig M McDonald, Anna G Mayhew, Jeffrey P Palmer, Shannon Marraffino, Lawrence Charnas, Eugenio Mercuri
Publicado no PLoS ONE (2022-01-01)

Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations

Por Ros Quinlivan, Michela Guglieri, Ashish Chikermane, Adrian Morley-Davies, Konstantinos Savvatis, Zaheer Yousef, John Bourke, William Bradlow, Matthew Fenton, Caroline Coats, Maria Ilina, Marianela Schiava, Cathy Turner, Alexandra Johnson, Stam Kapetanakis, Lisa Kuhwald
Publicado no Open Heart (2022-11-01)

Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protect...

Por John P Bourke, Gillian Watson, Francesco Muntoni, Stefan Spinty, Helen Roper, Michela Guglieri, Chris Speed, Elaine McColl, Ashish Chikermane, Sandeep Jayawant, Satish Adwani, Tracey Willis, Jennifer Wilkinson, Andrew Bryant, Thomas Chadwick, Ruth Wood, Kate Bushby
Publicado no BMJ Open (2018-12-01)

The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy

Por Dominic Scaglioni, Francesco Catapano, Matthew Ellis, Silvia Torelli, Darren Chambers, Lucy Feng, Matthew Beck, Caroline Sewry, Mauro Monforte, Shawn Harriman, Erica Koenig, Jyoti Malhotra, Linda Popplewell, Michela Guglieri, Volker Straub, Eugenio Mercuri, Laurent Servais, Rahul Phadke, Jennifer Morgan, Francesco Muntoni
Publicado no Acta Neuropathologica Communications (2021-01-01)

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Por Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser
Publicado no Нервно-мышечные болезни (2019-04-01)

Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

Por Xavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera, Cristina Jou, Patricia Pinol-Jurado, Elisa Villalobos, Carlos Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, José Verdu-Díaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso-Perez, Chiara Marini-Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, Andrés Nascimento, Jordi Diaz-Manera
Publicado no Cell Death and Disease (2023-09-01)

Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy.

Por Francesco Muntoni, James Signorovitch, Nathalie Goemans, Adnan Y Manzur, Nicolae Done, Gautam Sajeev, Jiayang Li, Hanane Akbarnejad, Aarushi Sharma, Susan J Ward, Erik H Niks, Laurant Servais, Eugenio Mercuri, Michela Guglieri, Volker Straub, Imelda de Groot, Deborah Ridout, PRO-DMD-01 study investigators, Association Française contre les Myopathies, NorthStar Clinical Network, Craig McDonald
Publicado no PLoS ONE (2025-01-01)

Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration

Por Patricia Piñol-Jurado, José Verdú-Díaz, Esther Fernández-Simón, Cristina Domínguez-González, Aurelio Hernández-Lain, Conor Lawless, Amy Vincent, Alejandro González-Chamorro, Elisa Villalobos, Alexandra Monceau, Zoe Laidler, Priyanka Mehra, James Clark, Andrew Filby, David McDonald, Paul Rushton, Andrew Bowey, Jorge Alonso Pérez, Giorgio Tasca, Chiara Marini-Bettolo, Michela Guglieri, Volker Straub, Xavier Suárez-Calvet, Jordi Díaz-Manera
Publicado no Scientific Reports (2024-02-01)

Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy

Por Francesco Muntoni, James Signorovitch, Nathalie Goemans, Adnan Y. Manzur, Nicolae Done, Gautam Sajeev, Jiayang Li, Hanane Akbarnejad, Aarushi Sharma, Susan J. Ward, Erik H. Niks, Laurant Servais, Eugenio Mercuri, Michela Guglieri, Volker Straub, Imelda de Groot, Deborah Ridout, PRO-DMD-01 study investigators, Association Française contre les Myopathies, The NorthStar Clinical Network, Craig McDonald
Publicado no PLoS ONE (2025-01-01)

Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy

Por Christopher R. Heier, Aiping Zhang, Nhu Y Nguyen, Christopher B. Tully, Aswini Panigrahi, Heather Gordish-Dressman, Sachchida Nand Pandey, Michela Guglieri, Monique M. Ryan, Paula R. Clemens, Mathula Thangarajh, Richard Webster, Edward C. Smith, Anne M. Connolly, Craig M. McDonald, Peter Karachunski, Mar Tulinius, Amy Harper, Jean K. Mah, Alyson A. Fiorillo, Yi-Wen Chen, Cooperative International Neuromuscular Research Group (CINRG) Investigators
Publicado no Journal of Personalized Medicine (2020-11-01)

Circulating protein biomarkers identified in two independent clinical trial cohorts of glucocorticoid-naive Duchenne muscular dystrophy patients.

Por Fatemeh Ahmadiharchegani, Rebecca A. Tobin, Chiara Degan, Ahmed Naveed, Michela Guglieri, Albert Jiménez-Requena, Sharon I. de Vries, Cristina Al-Khalili Szigyarto, Pietro Spitali, Roula Tsonaka, Yuri E. M. van der Burgt, Jordi Diaz-Manera, VBP15-004 investigators, CINRG DNHS investigators, FOR-DMD investigators of the Muscle Study Group, Paula R. Clemens, Eric P. Hoffman, Utkarsh J. Dang, Yetrib Hathout
Publicado no Scientific Reports (2025-11-01)