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X-linked traits

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

Johannes Birtel, Martin Gliem, [ ... ], Peter Charbel Issa

Accelerometric outcomes of motor function related to clinical evaluations and muscle involvement in dystrophic dogs

Mutsuki Kuraoka, Yuko Nitahara-Kasahara, [ ... ], Shin’ichi Takeda

A new measure to assess pain in people with haemophilia: The Multidimensional Haemophilia Pain Questionnaire (MHPQ)

Ana Cristina Paredes, Patrício Costa, Armando Almeida, Patrícia R. Pinto

Hippo signaling pathway is altered in Duchenne muscular dystrophy

Gian Luca Vita, Francesca Polito, [ ... ], M’Hammed Aguennouz

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures

Monika Hiller, Maria Sofia Falzarano, [ ... ], Pietro Spitali

Assessment of diaphragmatic thickness by ultrasonography in Duchenne muscular dystrophy (DMD) patients

Marianna Laviola, Rita Priori, Maria Grazia D’Angelo, Andrea Aliverti

Sequence characteristics define trade-offs between on-target and genome-wide off-target hybridization of oligoprobes

Olga V. Matveeva, Aleksey Y. Ogurtsov, Nafisa N. Nazipova, Svetlana A. Shabalina

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data

Marika Pane, Giorgia Coratti, [ ... ], Eugenio Mercuri

Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy

Claudia Brogna, Lara Cristiano, [ ... ], Eugenio Mercuri

Peptide-conjugated phosphodiamidate oligomer-mediated exon skipping has benefits for cardiac function in mdx and Cmah-/-mdx mouse models of Duchenne muscular dystrophy

Alison M. Blain, Elizabeth Greally, [ ... ], Volker W. Straub

Utrophin haploinsufficiency does not worsen the functional performance, resistance to eccentric contractions and force production of dystrophic mice

Antoine Boulanger Piette, Dounia Hamoudi, [ ... ], Jérôme Frenette

Antisense PMO cocktails effectively skip dystrophin exons 45-55 in myotubes transdifferentiated from DMD patient fibroblasts

Joshua Lee, Yusuke Echigoya, [ ... ], Toshifumi Yokota

Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy

Chantal Beekman, Anneke A. Janson, [ ... ], Nicole A. Datson

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