X-linked traits

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

Francesco Muntoni, Nathalie Goemans, [ ... ], the PRO-DMD-01 study, the Imaging DMD study, iMDEX, the collaborative Trajectory Analysis Project (cTAP)

Distribution of MRI-derived T2 values as a biomarker for in vivo rapid screening of phenotype severity in mdx mice

Emily A. Waters, Chad R. Haney, [ ... ], Alexis R. Demonbreun

Evaluation of dental manifestations in X-linked hypophosphatemia using orthopantomography

Rena Okawa, Misato Takagi, [ ... ], Kazuhiko Nakano

Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study

Francesco Muntoni, James Signorovitch, [ ... ], cTAP

Functional trajectories before and after loss of ambulation in Duchenne muscular dystrophy and implications for clinical trials

Craig M. McDonald, James Signorovitch, [ ... ], Investigators from the PRO-DMD-01 Study, Collaborative Trajectory Analysis Project (cTAP)

Validity of remote live stream video evaluation of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

Linda P. Lowes, Lindsay N. Alfano, [ ... ], Jerry R. Mendell

Chloroquine decreases cardiac fibrosis and improves cardiac function in a mouse model of Duchenne muscular dystrophy

Takuya Hirata, Shiro Baba, [ ... ], Junko Takita

A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice

Ian R. Woodcock, George Tachas, [ ... ], Eppie M. Yiu

A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses

Frederik Krull, Martina Bleyer, Jana Schäfer, Bertram Brenig

Adherence tool for prophylactic haemophilia treatment in adult and adolescent patients: A systematic review and meta-analysis protocol

Fadzlin Mohd Mokhtar, Sutha Rajakumar, Hasniza Zaman Huri

The frequency of complications in a cohort of patients diagnosed with hemophilia A and hemophilia B receiving prophylactic treatment in Colombia: A retrospective noninterventional study

Jorge E. Machado Alba, Juan David Wilches-Gutierrez, [ ... ], Manuel E. Machado-Duque

Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study

Elise Dupitier, Manon Voisin, [ ... ], Samuel Pouplin

Adherence to hemophilia patients with prophylaxis: Veritas-Pro and psychometric properties adapted to Turkish

Zuhal Mehrekula Demirci, Nilufer Demiral Yilmaz, [ ... ], Fahri Sahin

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