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Natural history of disease

Characterization of patients with Duchenne muscular dystrophy across previously developed health states

Francesco Muntoni, Nathalie Goemans, Nate Posner, James Signorovitch, Michaela Johnson, Chujun He, Patricia Dorling, Katherine Beaverson, Jose Alvir, Matthias Mahn, Susan J. Ward, Craig M. McDonald, Eugenio Mercuri, the PRO-DMD-01 study, the Imaging DMD study, iMDEX, the collaborative Trajectory Analysis Project (cTAP)

published 30 Oct 2024

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Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy

Vandana Ayyar Gupta, Jacqueline M. Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Catherine Rye, Mary Chesshyre, Amy Wolfe, Victoria Selby, Anna Mayhew, Elena S. Mazzone, Valeria Ricotti, Jean-Yves Hogrel, Erik H. Niks, Imelda de Groot, Laurent Servais, Volker Straub, Eugenio Mercuri, Adnan Y. Manzur, Francesco Muntoni, on behalf of the iMDEX Consortium and the U.K. NorthStar Clinical Network

published 26 Apr 2023

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Is information provided within chronic subdural haematoma education resources adequate? A scoping review

Conor S. Gillespie, Samuel Khanna, Mark E. Vivian, Samuel McKoy, Alvaro Yanez Touzet, Ellie Edlmann, Daniel J. Stubbs, Benjamin M. Davies

published 06 Apr 2023

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Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement

Danielle Ramsey, Gita Ramdharry, Mariacristina Scoto, Francesco Muntoni, Amanda Wallace, on behalf of the SMA REACH UK network

published 21 Dec 2022

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

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

published 23 Aug 2022

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Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study

Giorgia Coratti, Jacopo Lenkowicz, Stefano Patarnello, Consolato Gullì, Maria Carmela Pera, Carlotta Masciocchi, Riccardo Rinaldi, Valeria Lovato, Antonio Leone, Alfredo Cesario, Eugenio Mercuri

published 05 May 2022

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Bayesian modeling and simulation to inform rare disease drug development early decision-making: Application to Duchenne muscular dystrophy

Janelle L. Lennie, John T. Mondick, Marc R. Gastonguay

published 28 Apr 2022

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The impact of disease-related knowledge on perceptions of stigma among patients with Hepatitis C Virus (HCV) infection

M. Elle Saine, Julia E. Szymczak, Tyler M. Moore, Laura P. Bamford, Frances K. Barg, Kimberly A. Forde, Jason Schnittker, John H. Holmes, Nandita Mitra, Vincent Lo Re III

published 05 Oct 2021

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North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up

Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D’Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C. Previtali, Luisa Politano, Giacomo P. Comi, Valeria A. Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri, on behalf on the International DMD Group and the iMDEX Consortium

published 25 Jun 2021

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Estimating the disease burden of Korean type 2 diabetes mellitus patients considering its complications

Juyoung Kim, Seok-Jun Yoon, Min-Woo Jo

published 08 Feb 2021

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Change in global transmission rates of COVID-19 through May 6 2020

Ethan Obie Romero-Severson, Nick Hengartner, Grant Meadors, Ruian Ke

published 06 Aug 2020

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A model-based framework for chronic hepatitis C prevalence estimation

Abdullah Hamadeh, Zeny Feng, Murray Krahn, William W. L. Wong

published 21 Nov 2019

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

Francesco Muntoni, Joana Domingos, Adnan Y. Manzur, Anna Mayhew, Michela Guglieri, The UK NorthStar Network , Gautam Sajeev, James Signorovitch, Susan J. Ward

published 03 Sep 2019

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