Duchenne muscular dystrophy: from diagnosis to therapy

MS Falzarano, C Scotton, C Passarelli, A Ferlini - Molecules, 2015 - mdpi.com
Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due
to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and …

Dystrophinopathies

BT Darras, CC Menache-Starobinski, V Hinton… - … disorders of Infancy …, 2015 - Elsevier
Dystrophinopathies result from mutations of the DMD gene that primarily affect skeletal
muscle but also affect heart, brain, and smooth muscle. Advances in the genetic analysis of …

Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations

V Ricotti, WPL Mandy, M Scoto, M Pane… - … Medicine & Child …, 2016 - Wiley Online Library
Aim Duchenne muscular dystrophy (DMD) is associated with neuropsychiatric disorders.
The aim of the study was to characterize the DMD neuropsychiatric profile fully and to …

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

N Doorenweerd, A Mahfouz, M van Putten… - Scientific reports, 2017 - nature.com
Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of
learning and behavioural problems and is associated with neurodevelopmental disorders …

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy

V Straub, P Balabanov, K Bushby, M Ensini… - The Lancet …, 2016 - thelancet.com
Duchenne muscular dystrophy is a rare, progressive, muscle-wasting disease leading to
severe disability and premature death. Treatment is currently symptomatic, but several …

Duchenne muscular dystrophy: current cell therapies

D Sienkiewicz, W Kulak… - Therapeutic …, 2015 - journals.sagepub.com
Duchenne muscular dystrophy is a genetically determined X-linked disease and the most
common, progressive pediatric muscle disorder. For decades, research has been conducted …

Duchenne muscular dystrophy from brain to muscle: the role of brain dystrophin isoforms in motor functions

N Wijekoon, L Gonawala, P Ratnayake… - Journal of Clinical …, 2023 - mdpi.com
Brain function and its effect on motor performance in Duchenne muscular dystrophy (DMD)
is an emerging concept. The present study explored how cumulative dystrophin isoform loss …

Revised North Star Ambulatory Assessment for young boys with Duchenne muscular dystrophy

E Mercuri, G Coratti, S Messina, V Ricotti, G Baranello… - PLoS …, 2016 - journals.plos.org
The advent of therapeutic approaches for Duchenne muscular dystrophy (DMD) has
highlighted the need to identify reliable outcome measures for young boys with DMD. The …

195th ENMC international workshop: newborn screening for Duchenne muscular dystrophy 14–16th December, 2012, Naarden, The Netherlands

JA Ellis, E Vroom, F Muntoni - Neuromuscular Disorders, 2013 - Elsevier
1.1. Aims The aim of this workshop was to assess the status of NBS programs for DMD
around the world, and to assess the technical, ethical, and practical aspects that need …

[HTML][HTML] Synaptic alterations as a neurodevelopmental trait of Duchenne muscular dystrophy

ME De Stefano, V Ferretti, C Mozzetta - Neurobiology of Disease, 2022 - Elsevier
Dystrophinopaties, eg, Duchenne muscular dystrophy (DMD), Becker muscular dystrophy
and X-linked dilated cardiomyopathy are inherited neuromuscular diseases, characterized …