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X-linked traits

Multiple criteria decision analysis for therapeutic innovations in a hemophilia care center: A pilot study of the organizational impact of innovation in hemophilia care management

Karen Beny, Amélie Dubromel, Benjamin du Sartz de Vigneulles, Valérie Gay, Florence Carrouel, Claude Negrier, Claude Dussart

published 09 Sep 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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Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy

Giorgia Coratti, Jacopo Lenkowicz, Giulia Norcia, Simona Lucibello, Elisabetta Ferraroli, Adele d’Amico, Luca Bello, Elena Pegoraro, Sonia Messina, Federica Ricci, Tiziana Mongini, Angela Berardinelli, Riccardo Masson, Stefano C. Previtali, Grazia D’angelo, Francesca Magri, Giacomo P. Comi, Luisa Politano, Luigia Passamano, Gianluca Vita, Valeria A. Sansone, Emilio Albamonte, Chiara Panicucci, Claudio Bruno, Antonella Pini, Enrico Bertini, Stefano Patarnello, Marika Pane, Eugenio Mercuri, for the italian DMD study group

published 29 Jul 2022

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Optimization and evaluation of a two-stage chromogenic assay procedure for measurement of emicizumab plasma levels

Nasim Shahidi Hamedani, Johannes Oldenburg, Bernd Pötzsch, Jens Müller

published 14 Jul 2022

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Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

Umut Gerlevik, Ceren Saygı, Hakan Cangül, Aslı Kutlu, Erdal Fırat Çaralan, Yasemin Topçu, Nesrin Özören, Osman Uğur Sezerman

published 25 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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Development of a novel startle response task in Duchenne muscular dystrophy

Kate Maresh, Andriani Papageorgiou, Deborah Ridout, Neil Harrison, William Mandy, David Skuse, Francesco Muntoni

published 19 Apr 2022

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Development of Duchenne Video Assessment scorecards to evaluate ease of movement among those with Duchenne muscular dystrophy

Marielle G. Contesse, Linda P. Lowes, Michelle K. White, Laura Dalle Pazze, Christine McSherry, Lindsay N. Alfano, Megan Iammarino, Natalie Reash, Kelly Bonarrigo, Michael Kiefer, Katie Laubscher, Melissa McIntyre, Shelley Mockler, Leslie Nelson, Leslie Vogel, Mindy G. Leffler

published 13 Apr 2022

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Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy

Rachele Rossi, Mingyan Fang, Lin Zhu, Chongyi Jiang, Cong Yu, Cristina Flesia, Chao Nie, Wenyan Li, Alessandra Ferlini

published 31 Mar 2022

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Prognostic indicators of disease progression in Duchenne muscular dystrophy: A literature review and evidence synthesis

Nermina Ferizovic, Jessica Summers, Igor Beitia Ortiz de Zárate, Christian Werner, Joel Jiang, Erik Landfeldt, Katharina Buesch

published 25 Mar 2022

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Effects of replacement therapies with clotting factors in patients with hemophilia: A systematic review and meta-analysis

Carolina J. Delgado-Flores, David García-Gomero, Stefany Salvador-Salvador, José Montes-Alvis, Celina Herrera-Cunti, Alvaro Taype-Rondan

published 14 Jan 2022

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, Carme Brun-Gasca, Jana Dominguez-Carral, Veronica Delgadillo, Steve Laurie, Sophia Derdak, Natàlia Padilla, Xavier de la Cruz, Núria Capdevila, Nino Spataro, Neus Baena, Miriam Guitart, Anna Ruiz

published 15 Oct 2021

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Predictors of the outcome of immune tolerance induction in patients with haemophilia A and inhibitors: The Brazilian Immune Tolerance (BrazIT) Study protocol

Ricardo Mesquita Camelo, Daniel Gonçalves Chaves, Luciana Werneck Zuccherato, Suely Meireles Rezende, for the BrazIT Study Team

published 26 Aug 2021

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