Results 241 to 250 of about 159,117 (304)

Development and Validation of a Deep Learning‐Based Facial Weakness Score for Objective Assessment in Facioscapulohumeral Muscular Dystrophy

Muscle &Nerve, Volume 73, Issue 6, Page 1096-1102, June 2026.
ABSTRACT Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) is a muscle disease that leads, among other manifestations, to facial weakness. This weakness can severely impact communication and quality of life, yet it remains under‐researched with limited objective clinical measures.
T. G. J. Loonen, T. C. ten Harkel, S. C. C. Vincenten, C. G. C. Horlings, C. H. G. Beurskens, S. Knuijt, G. W. A. M. Padberg, B. G. M. van Engelen, T. J. J. Maal, K. Mul   +9 more
wiley   +1 more source

Rapidly Progressive Overlap of Immune Checkpoint Inhibitor-Induced Myositis and Myasthenia Gravis: Diagnostic and Therapeutic Challenges. [PDF]

Cureus
Sequeira S, Borges C, Castro P, Barros N, Mendes M.   +4 more
europepmc   +1 more source

Metal Ion Binding of Vimentin Tail Domain Fragments

ChemBioChem, Volume 27, Issue 9, 14 May 2026.
An investigation of the structural and metal‐binding properties of the isolated vimentin tail domain was performed. The affinity and location of Cu(II) binding to both peptide and protein fragments of the tail domain of vimentin were characterized, providing a foundation for exploring how metals drive conformational change in vimentin intermediate ...
Estely J. Carranza, Marie C. Heffern, Dylan T. Murray   +2 more
wiley   +1 more source

A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child. [PDF]

Saudi J Med Med Sci
Abbas AA, Monagel DA, Althubaiti SJ.
europepmc   +1 more source

Detection of Diagnostic Antibodies in Immune‐Mediated Diseases: A Focus on Antigens and Technologies

ChemBioChem, Volume 27, Issue 9, 14 May 2026.
This review explores autoantibody detection in immune‐mediated diseases, highlighting autoantigens including post‐translational modifications. We compared enzyme‐linked immunosorbent assay and indirect immunofluorescence with automated chemiluminescence platforms.
Silvia Bracci, Feliciana Real‐Fernandez, Federico Pratesi, Francesca Nuti, Paolo Rovero, Anna Maria Papini   +5 more
wiley   +1 more source

Comparative multi-omics in female mice reveals tissue-specific vulnerabilities to chronic alcohol intake. [PDF]

Alcohol Clin Exp Res (Hoboken)
Willis CRG, Ganjayi MS, Brown AM, Moser SE, Szewczyk NJ, Clark BC, Baumann CW.   +6 more
europepmc   +1 more source

Expanding the Molecular and Pathologic Spectrum of <i>HSPB8</i> Myopathy and Distal Motor Neuropathy. [PDF]

Neurol Genet
Putko BN, Sorenson EJ, Cui G, Liewluck T, Niu Z, Litchy WJ, Mer G, Milone M.   +7 more
europepmc   +1 more source

Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status. [PDF]

Genome Med
Eura N, Noguchi S, Ogawa M, Sonehara K, Yamanaka A, Kurashige T, Hayashi S, Okada Y, Sugie K, Nishino I.   +9 more
europepmc   +1 more source

Adipose Tissue and Lipid Dysregulation Contributions to Cachexia, Sarcopenia and Muscle Function

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 3, June 2026.
Joseph D. Abraham, Stephan von Haehling, Stefan D. Anker   +2 more
wiley   +1 more source

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA). [PDF]

J Neuropathol Exp Neurol
Merlet AN, Lacène E, Nelson I, Brochier G, Labasse C, Chanut A, Madelaine A, Beuvin M, Bonne G, Féasson L, Minot MC, Noury JB, Fradin M, Savarese M, Fernández-Eulate G, Behin A, Stojkovic T, Hentschel A, Marcorelles P, Roos A, Evangelista T.   +20 more
europepmc   +1 more source