The importance of genetic diagnosis for Duchenne muscular dystrophy
A Aartsma-Rus, IB Ginjaar, K Bushby - Journal of medical genetics, 2016 - jmg.bmj.com
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by
mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most …
mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most …
Current and emerging treatment strategies for Duchenne muscular dystrophy
JK Mah - Neuropsychiatric disease and treatment, 2016 - Taylor & Francis
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in
childhood. It is caused by mutations of the DMD gene, leading to progressive muscle …
childhood. It is caused by mutations of the DMD gene, leading to progressive muscle …
[HTML][HTML] The “usual suspects”: genes for inflammation, fibrosis, regeneration, and muscle strength modify Duchenne muscular dystrophy
L Bello, E Pegoraro - Journal of Clinical Medicine, 2019 - mdpi.com
Duchenne muscular dystrophy (DMD), the most severe form of dystrophinopathy, is quite
homogeneous with regards to its causative biochemical defect, ie, complete dystrophin …
homogeneous with regards to its causative biochemical defect, ie, complete dystrophin …
Osteopontin splice variants and polymorphisms in cancer progression and prognosis
MA Briones-Orta, SE Avendaño-Vázquez… - … et Biophysica Acta (BBA …, 2017 - Elsevier
Osteopontin (OPN) is an extracellular matrix protein that is overexpressed in various cancers
and promotes oncogenic features including cell proliferation, survival, migration, and …
and promotes oncogenic features including cell proliferation, survival, migration, and …
Respiratory management of the patient with Duchenne muscular dystrophy
DW Sheehan, DJ Birnkrant, JO Benditt, M Eagle… - …, 2018 - publications.aap.org
In 2010, Care Considerations for Duchenne Muscular Dystrophy, sponsored by the Centers
for Disease Control and Prevention, was published in Lancet Neurology, and in 2018, these …
for Disease Control and Prevention, was published in Lancet Neurology, and in 2018, these …
Cardiorespiratory management of Duchenne muscular dystrophy: emerging therapies, neuromuscular genetics, and new clinical challenges
DJ Birnkrant, L Bello, RJ Butterfield… - The Lancet …, 2022 - thelancet.com
The life-limiting complications of Duchenne muscular dystrophy (DMD) include loss of lung
function and progressive cardiomyopathy; when patients are treated with assisted …
function and progressive cardiomyopathy; when patients are treated with assisted …
Biomarkers of Duchenne muscular dystrophy: current findings
CAK Szigyarto, P Spitali - Degenerative neurological and …, 2018 - Taylor & Francis
Numerous biomarkers have been unveiled in the rapidly evolving biomarker discovery field,
with an aim to improve the clinical management of disorders. In rare diseases, such as …
with an aim to improve the clinical management of disorders. In rare diseases, such as …
[HTML][HTML] Advances in Dystrophinopathy diagnosis and therapy
FA Saad, G Siciliano, C Angelini - Biomolecules, 2023 - mdpi.com
Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the
Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated …
Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated …
Muscular dystrophies
JC Carter, DW Sheehan, A Prochoroff… - Clinics in chest …, 2018 - chestmed.theclinics.com
The muscular dystrophies are a heterogeneous group of disorders defined by dystrophic
pathologic features on muscle biopsy. Clinically, they are characterized by progressive …
pathologic features on muscle biopsy. Clinically, they are characterized by progressive …
Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?
L Bello, EP Hoffman, E Pegoraro - Nature Reviews Neurology, 2023 - nature.com
Patients with Duchenne muscular dystrophy (DMD) show clinically relevant phenotypic
variability, despite sharing the same primary biochemical defect (dystrophin deficiency) …
variability, despite sharing the same primary biochemical defect (dystrophin deficiency) …