Results 121 to 130 of about 73,071 (237)

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni, Ilham Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad, Ourayna Batta, Aziza Sbiti, Maryem Sahli, Omar Askander, Zineb Rchiad, Abdelaziz Sefiani   +9 more
wiley   +1 more source

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus–Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies

Muscle &Nerve, Volume 73, Issue 3, Page 485-489, March 2026.
ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley   +1 more source

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

Modeling, Evaluation, and In Vivo Estimation of Muscle Cell Diameter With the Random Permeable Barrier Model: Correlation With Subject Characteristics and Isometric Torque

NMR in Biomedicine, Volume 39, Issue 3, March 2026.
We evaluated the random permeable barrier model (RPBM) through simulations, model fitting, and in vivo analysis of 100 healthy adults. Simulations showed that stable estimates of muscle cell diameter and membrane permeability require constraining τ and fixing D0 at ~0.9 of axial diffusivity at long diffusion times.
Martijn Froeling, Roosmarijn Brenninkmeijer, Danny R. van der Woude, Bart Bartels, Linda Heskamp   +4 more
wiley   +1 more source

Recurrent drought amplifies drought impacts and increases seasonal synchrony in mountain grassland communities

Oikos, Volume 2026, Issue 3, March 2026.
Climate change increases the recurrence of drought events with strong repercussions on grassland ecosystems. While the effects of single drought events on ecosystem structure and functioning are well understood, it is largely unknown whether and how recurrent drought events modify ecosystem responses to subsequent drought.
Lena M. Müller, Michael Bahn, Maximillian Weidle, Georg Leitinger, Dina in 't Zandt   +4 more
wiley   +1 more source

Proteome‐Wide Analysis of Human Deletions

Proteins: Structure, Function, and Bioinformatics, Volume 94, Issue 3, Page 853-870, March 2026.
ABSTRACT Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense‐mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all.
Haoyang Zhang, Xinning Luan, Mauno Vihinen   +2 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

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, Volume 22, Issue 16, 17 March 2026.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source

Quantitative ultrasound assessment of Duchenne muscular dystrophy using edge detection analysis [PDF]

, 2016
Aarnink, Arai, Bhansing, Bickerstaffe, Boland, Bushby, Bushby, Canny, Chen, Emery, Gudmundsson, Hammoude, Hoffman, Hou, Jansen, Janssen, Mahmoud, Mazzone, Mazzone, McDonald, Peters, Pillen, Pillen, Rutkove, Schreiber, Shklyar, Torriani, Wu, Zaidman, Zaidman, Zwehl   +30 more
core   +2 more sources

Biglycan : a multivalent proteoglycan providing structure and signals [PDF]

, 2013
Research over the past few years has provided fascinating results indicating that biglycan, besides being a ubiquitous structural component of the extracellular matrix (ECM), may act as a signaling molecule.
Năstase, Mădălina-Viviana, Schäfer, Liliana, Young, Marian F.   +2 more
core