Results 171 to 180 of about 56,165 (274)

Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant. [PDF]

JACC Case Rep
Albrecht K, Averbuch T, Huculak C, Marcadier J, Oudit G, van Landeghem FKH, Adam B, Lyons KJ, Kiamanesh O.   +8 more
europepmc   +1 more source

Feasibility of High‐Density Surface Electromyography for the Detection of Neuromuscular Disorders in Children

Muscle &Nerve, Volume 73, Issue 5, Page 806-814, May 2026.
ABSTRACT Introduction/Aims Diagnosing neuromuscular disorders in children is challenging. Concentric needle electromyography (CNEMG) is the standard for electrophysiological assessments but has limitations in pediatric populations. High‐density surface electromyography (HDsEMG) provides a noninvasive technique with superior spatial resolution, enabling
Eduardo Martinez‐Valdes, Ignacio Contreras‐Hernandez, Ragul Selvamoorthy, Francesco Negro, Andrew Lawley   +4 more
wiley   +1 more source

Protocol for in vivo analysis of muscle function in porcine models for muscular dystrophies. [PDF]

STAR Protoc
Hristov H, Blasi M, Neves Barbosa I, Kemter E, Kurome M, Kessler B, Zakhartchenko V, Klymiuk N, Stirm M, Jaudas F, Wolf E.   +10 more
europepmc   +1 more source

The atomic structure of human dystrophin spectrin‐like repeat 24

Acta Crystallographica Section F, Volume 82, Issue 5, Page 184-193, May 2026.
The atomic structure of human dystrophin spectrin‐like repeat 24 was determined at 2.14 Å resolution.The structure of spectrin‐like repeat 24 of human dystrophin was determined at 2.5 Å effective resolution. The structure exhibits a three‐helix bundle fold, common to all spectrin‐repeat family members, and shares a high degree of homology with existing
Oakley Streeter, Ke Shi, Hannah Bui, Hideki Aihara, James M. Ervasti, Robert Evans III, Joseph M. Muretta   +6 more
wiley   +1 more source

Recurrent Pneumonia in a Patient With Oculopharyngeal Muscular Dystrophy (OPMD) due to GCN Expansion in the <i>PABPN1</i> Gene: A Diagnostic Challenge. [PDF]

Open Respir Arch
Mañana Valdés C, Arias Guillén M, Moris de la Tassa G.   +2 more
europepmc   +1 more source

Multidimensional Measurements of Dysarthria in Myotonic Dystrophy Type 1

International Journal of Language &Communication Disorders, Volume 61, Issue 3, May/June 2026.
ABSTRACT Background Myotonic dystrophy type 1 (DM1) is a heterogeneous neuromuscular disorder characterized by progressive muscle weakness and myotonia. Dysarthria is a known symptom of DM1, but literature is lacking about the patient's own perception in relationship to dysarthria characteristics and severity.
Sanne van Hellemond, Nicole Voet, Rosemarie Kroon, Yelda Sahin, Ilse Karnebeek, Marthè Nijkamp, Simone Knuijt   +6 more
wiley   +1 more source

Pharmacological Inhibition of N-terminal methyltransferase 1 promotes myogenic differentiation and muscle regeneration in a mouse model of Duchenne muscular dystrophy. [PDF]

Stem Cell Res Ther
Zhang H, He M, Asif M, Deng Y, Huang R, Kuang S.   +5 more
europepmc   +1 more source

Working With School‐Aged Children With Neurodisability and Oropharyngeal Dysphagia Who Require Mealtime Assistance: A Survey of Speech and Language Therapists’ Clinical Practice

International Journal of Language &Communication Disorders, Volume 61, Issue 3, May/June 2026.
ABSTRACT Background School‐aged children with neurodisability and oropharyngeal dysphagia who need mealtime assistance have an increased risk of premature death. Speech & Language Therapists (SLTs) provide assessment and recommendations to optimise mealtime nutrition and hydration, but little is known about current clinical practice including mealtime ...
Sally Morgan, Kathleen Mulligan, Kelly A Weir, Katerina Hilari   +3 more
wiley   +1 more source

Beta-nicotinamide mononucleotide attenuates creatine kinase release in Duchenne muscular dystrophy model rats. [PDF]

J Vet Med Sci
Nakamura K, Kanou M, Ito S, Jimbo T, Kouzaki K, Nakazato K, Nakamjima R, Yamanouchi K, Ueda H, Yamana K.   +9 more
europepmc   +1 more source

The scent of death: A case study for volatile markers of decomposition on a concrete floor

Journal of Forensic Sciences, Volume 71, Issue 3, Page 1480-1487, May 2026.
Abstract Volatile organic compounds (VOCs) released during human decomposition are chemically diverse and can provide forensic evidence indicating the prior presence of a corpse. In July 2023, the Michigan City Police Department received a report from an individual claiming to have murdered his roommate and stored the body in a basement cellar for 57 ...
Alexis Hecker, Anna Painter, John Goodpaster   +2 more
wiley   +1 more source