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X-linked traits

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

Giorgia Coratti, Jacopo Lenkowicz, [ ... ], for the italian DMD study group

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

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

Umut Gerlevik, Ceren Saygı, [ ... ], Osman Uğur Sezerman

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

Development of a novel startle response task in Duchenne muscular dystrophy

Kate Maresh, Andriani Papageorgiou, [ ... ], Francesco Muntoni

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

Marielle G. Contesse, Linda P. Lowes, [ ... ], Mindy G. Leffler

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

Rachele Rossi, Mingyan Fang, [ ... ], Alessandra Ferlini

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

Nermina Ferizovic, Jessica Summers, [ ... ], Katharina Buesch

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

Carolina J. Delgado-Flores, David García-Gomero, [ ... ], Alvaro Taype-Rondan

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

Cinthia Aguilera, Elisabeth Gabau, [ ... ], Anna Ruiz

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, [ ... ], for the BrazIT Study Team

Patient preferences in the treatment of hemophilia A: A latent class analysis

Axel C. Mühlbacher, Andrew Sadler, Björn Lamprecht, Christin Juhnke

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study

UnKyu Yun, Seung-Ah Lee, [ ... ], Hyung Jun Park

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