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X-linked traits

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

published 22 Jan 2024

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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

published 14 Dec 2023

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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, Diana Rocio Arias-Osorio, Juan Manuel Reyes, Maria Lourdes Nakandakari, Harrison David Ospina-Arzuaga, Andres Gaviria-Mendoza, Natalia Castaño-Gamboa, Luis Fernando Valladales-Restrepo, Manuel E. Machado-Duque

published 27 Nov 2023

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

Elise Dupitier, Manon Voisin, Caroline Stalens, Pascal Laforêt, Samuel Pouplin

published 08 Sep 2023

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

Zuhal Mehrekula Demirci, Nilufer Demiral Yilmaz, Hale Bulbul, Fatma Keklik Karadag, Fatos Dilan Atilla, Guray Saydam, Fahri Sahin

published 09 Aug 2023

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Quality of life, self-reported outcomes and impact of education among people with moderate and severe hemophilia A: An integrated perspective from a Latin American country

Liliana Torres, Oscar Peñuela, Maria del Rosario Forero, Juan Satizabal, Ximena Salazar, Diana Benavides, Raul Gamarra, Marcela Rivera, David Vizcaya, Juan-Sebastian Franco

published 06 Jul 2023

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Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact

Massimiliano Orso, Antonio Migliore, Barbara Polistena, Eleonora Russo, Francesca Gatto, Mauro Monterubbianesi, Daniela d’Angela, Federico Spandonaro, Marika Pane

published 27 Jun 2023

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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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Rett syndrome severity estimation with the BioStamp nPoint using interactions between heart rate variability and body movement

Pradyumna Byappanahalli Suresha, Heather O’Leary, Daniel C. Tarquinio, Jana Von Hehn, Gari D. Clifford

published 01 Mar 2023

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Antisense oligonucleotides to therapeutically target SARS-CoV-2 infection

Yuanyuan Qiao, Jesse W. Wotring, Charles J. Zhang, Xia Jiang, Lanbo Xiao, Andy Watt, Danielle Gattis, Eli Scandalis, Susan Freier, Yang Zheng, Carla D. Pretto, Stephanie J. Ellison, Eric E. Swayze, Shuling Guo, Jonathan Z. Sexton, Arul M. Chinnaiyan

published 03 Feb 2023

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Adherence to prophylaxis and bleeding outcome: A multicenter Nigerian study

Theresa Ukamaka Nwagha, Helen Chioma Okoye, Saleh Yuguda, Christiana Enefiok Udo, Mutiat Kehinde Ogunfemi, Dalhat Haliru Gwarzo, Nnamdi Joel Osuji

published 02 Feb 2023

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Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy

Kristy Iskandar, Agung Triono, Sunartini, Ery Kus Dwianingsih, Braghmandita Widya Indraswari, Ignatia Rosalia Kirana, Gabriele Ivana, Retno Sutomo, Suryono Yudha Patria, Elisabeth Siti Herini, Gunadi

published 31 Oct 2022

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Cognitive and behavioral functioning in two neurogenetic disorders; how different are these aspects in Duchenne muscular dystrophy and Neurofibromatosis type 1?

Danique M. J. Hellebrekers, Sandra A. M. van Abeelen, Coriene E. Catsman, Sander M. J. van Kuijk, Annick M. Laridon, Sylvia Klinkenberg, Jos G. M. Hendriksen, Johan S. H. Vles

published 10 Oct 2022

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