Results 121 to 130 of about 12,800 (285)

Mitochondrial DNA Variation in the Aging Human Cerebral Cortex and Cerebellum

Aging Cell, Volume 25, Issue 1, January 2026.
We used cerebellum and frontal cortex whole genome sequencing data from the North American Brain Expression Consortium to investigate mitochondrial DNA deletions, single nucleotide variants, and copy number. We found significant differences between brain regions and age effects for all these metrics, which illustrate mitochondrial changes in healthy ...
Audrey A. Omidsalar, David R. Tyrpak, J. Andrew MacKay, Kelvin Yen, Pinchas Cohen, Geidy Serrano, Thomas G. Beach, Michael A. Nalls, Dena G. Hernandez, Mark R. Cookson, Andrew B. Singleton, J. Raphael Gibbs, North American Brain Expression Consortium, Brooke E. Hjelm   +13 more
wiley   +1 more source

Oculopharyngeal myopathy with distal and cardiomyopathy. [PDF]

, 1977
Itaru Goto, Yukiko Kanazawa, T Kobayashi, Y Murai, Yoshigoro Kuroiwa   +4 more
openalex   +1 more source

Co‐Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature

European Journal of Neurology, Volume 33, Issue 1, January 2026.
ABSTRACT Background Facioscapulohumeral dystrophy (FSHD) and Myasthenia Gravis (MG) are well‐known rare neuromuscular diseases of respectively genetic and acquired origin. Among muscular dystrophies, the co‐occurrence of MG with FSHD is the most common, representing a non‐negligible “double trouble”.
Giulia Tammam, Luisa Villa, Richard J. L. F. Lemmers, Jonathan Pini, Abderhmane Slioui, Laura Bouchareychas, Yann David, Mihai‐Bogdan Ioncea, Leonardo Salviati, Michele Cavalli, Andra Ezaru, Angela Puma, Jan J. Verschuuren, Silvère M. van der Maarel, Sabrina Sacconi   +14 more
wiley   +1 more source

A CASE OF DISTAL HEREDITARY MOTOR NEUROPATHY WITH HSPB1 MUTATION IN COEXISTENCE WITH MYOTONIA AND MYOPATHY [PDF]

, 2023
Handan Uzunçakmak Uyanık, Ersin Tan, Çağrı Mesut Temuçin   +2 more
openalex   +1 more source

Severe muscle pain in the absence of enzyme elevation: a clue to the diagnosis of muscular vasculitis

ACR Open Rheumatology, Volume 8, Issue 1, January 2026.
Shay Brikman, Amir Bieber, Guy Dori
wiley   +1 more source

Morphological differences in myofibre size and shape: A comparative study of the soleus, gastrocnemius, triceps brachii and vastus lateralis in humans and mice

Journal of Anatomy, Volume 248, Issue 1, Page 126-139, January 2026.
Myofibre size and shape were investigated in functionally distinct muscles of humans and mice using ATPase histochemistry and immunofluorescence. In both species, soleus myofibres were found to be larger, more irregularly shaped, and more heterogeneous compared to other muscles. These findings may have implications for biomedical research and potential
Casper Soendenbroe, Rene B. Svensson, Bettina Mittendorfer, S. Peter Magnusson, Abigail L. Mackey, Jesper L. Andersen   +5 more
wiley   +1 more source

Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation

Annals of Clinical and Translational Neurology
Objective The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the distal parts ...
Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A. Austin‐Tse, Vijay S. Ganesh, Melanie C. O'Leary, Heidi L. Rehm, Michael K. Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese   +16 more
doaj   +1 more source

Welander Distal Myopathy-Associated TIA1 E384K Mutation Disrupts Stress Granule Dynamics Under Distinct Stress Conditions

Biology
Cellular stress triggers the formation of diverse RNA–protein aggregates, which can be associated with physiological responses, pathological conditions, or even detrimental outcomes.
Beatriz Ramos-Velasco, José Alcalde, José M. Izquierdo   +2 more
doaj   +1 more source

Panorama of the distal myopathies. [PDF]

Acta Myol, 2020
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B.   +7 more
europepmc   +1 more source

Diabetic gastroenteropathy: Associations between gastrointestinal symptoms, motility, and extraintestinal autonomic measures

Neurogastroenterology &Motility, Volume 38, Issue 1, January 2026.
We found no associations between gastrointestinal and extraintestinal measures of diabetic autonomic neuropathy. Nonetheless, gastrointestinal symptoms increased with the severity of cardiovascular autonomic neuropathy and were associated with gastrointestinal measures.
Ditte S. Kornum, Christina Brock, Tina Okdahl, Davide Bertoli, Huda Kufaishi, Anne‐Marie Wegeberg, Katrine L. Høyer, Esben B. Mark, Birgitte Brock, Christian S. Hansen, Filip K. Knop, Asbjørn M. Drewes, Klaus Krogh   +12 more
wiley   +1 more source