Results 71 to 80 of about 235,784 (190)

Elevation of transaminases. What if not the liver?

Лечащий Врач
Background. According to Russian studies, the average age of Duchenne muscular dystrophy diagnosis is 7-8 years. This is because, on one hand, Duchenne muscular dystrophy is a rare disease, and a doctor may never see it throughout their clinical practice.
I. V. Sharkova
doaj   +1 more source

From muscle fibres to muscle gears: how dynamic fascicle orientation and shape change impact skeletal muscle function

Biological Reviews, EarlyView.
ABSTRACT Skeletal muscle architectural design strongly affects force‐generating capacity and excursion range, and its functional importance to animal and human movement is well founded. Traditionally, this ‘structure–function relation’ has been inferred from architecture measurements with muscles at rest (from anatomical dissections or medical imaging ...
Matheus D. Pinto, James M. Wakeling, Javier A. Almonacid, Anthony J. Blazevich   +3 more
wiley   +1 more source

Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report

Journal of Medical Case Reports
Introduction Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular dystrophy gene).
Sarah Gerges, Rania Naoufal, Hicham Mansour   +2 more
doaj   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Siblings With Duchenne Muscular Dystrophy: Exploring Diagnosis Age and Disease Progression in a Genetic Therapy‐Naïve Cohort

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Duchenne muscular dystrophy (DMD) is the most common pediatric muscular dystrophy. Typically, there is a ~ 2‐year delay between symptom onset and diagnosis. Limited data on outcomes in early‐diagnosed individuals have limited the understanding of the clinical impact of early diagnosis.
Vaishnavi Brahmamdam, Cuixia Tian, Niki Armstrong, Valentina Pilipenko, Lisa J. Martin, Alexander Zygmunt, Irina Rybalsky, Lisa Reebals, Chinmayee B. Nagaraj   +8 more
wiley   +1 more source

Case Report: Home initiation of nocturnal non-invasive ventilation in two adolescents with Duchenne muscular dystrophy and comorbid autism spectrum disorder and ADHD

Frontiers in Pediatrics
This case report describes initiation of Nocturnal Non-Invasive Ventilation in home settings for two adolescents with Duchenne Muscular Dystrophy and different neuropsychiatric and neurocognitive comorbidities: one has Autism Spectrum Disorder, and the ...
Pien M. M. Weerkamp, Mark Voermans, Moniek Finders, Arno Brouwers, Philippe Collin, Philippe Collin, Sylvia Klinkenberg, Sylvia Klinkenberg, Sylvia Klinkenberg, Jos. G. M. Hendriksen, Jos. G. M. Hendriksen, Jos. G. M. Hendriksen   +11 more
doaj   +1 more source

Duchenne muscular dystrophy: overview and future challenges [PDF]

, 2017
Duchenne muscular dystrophy is a muscle disease caused by mutation in the gene that encodes the cytoskeletal protein dystrophin. It is inherited in an X-linked recessive fashion.
Valentinus Besin, Besin, Valentinus, Lasmono, Shirley Ferlina, Moh Hasan Machfoed, Shirley Ferlina Lasmono, Machfoed, Moh.Hasan, Mudjiani Basuki, Basuki, Mudjiani, null null   +8 more
core   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Application of Machine Learning Approaches in Electrophoresis—A Comprehensive Review

ELECTROPHORESIS, EarlyView.
This review paper highlights key research on the applications of machine learning tools in electrophoresis. ABSTRACT The electrophoretic technique is widely used to analyze and purify charged molecules based on their size, shape, and charge using an electric field for various applications, including DNA fingerprinting, genetic research, disease ...
Umaeer Al Hammad, Aminul Islam Khan, Prashanta Dutta   +2 more
wiley   +1 more source

Cardiac phenotype of Duchenne Muscular Dystrophy: Insights from cellular studies [PDF]

, 2013
Dilated cardiomyopathy is a serious and almost inevitable complication of Duchenne Muscular Dystrophy, a devastating and fatal disease of skeletal muscle resulting from the lack of functional dystrophin, a protein linking the cytoskeleton to the ...
Shirokova, Natalia, Ernst Niggli, Natalia Shirokova, Niggli, Ernst   +3 more
core   +2 more sources