Results 51 to 60 of about 1,189 (168)

Molecular markers for granulovacuolar degeneration are present in rimmed vacuoles.

PLoS ONE, 2013
BackgroundRimmed vacuoles (RVs) are round-oval cytoplasmic inclusions, detected in muscle cells of patients with myopathies, such as inclusion body myositis (IBM) and distal myopathy with RVs (DMRV).
Masahiro Nakamori, Tetsuya Takahashi, Tomokazu Nishikawa, Yu Yamazaki, Takashi Kurashige, Hirofumi Maruyama, Koji Arihiro, Masayasu Matsumoto   +7 more
doaj   +1 more source

Small Fiber Morphology and Function in Inclusion Body Myositis—A Multimodal Assessment Including Confocal Corneal Microscopy

European Journal of Neurology, Volume 32, Issue 8, August 2025.
Multimodal small fiber assessment in inclusion body myositis. ABSTRACT Introduction The extent of peripheral nerve involvement in inclusion body myositis (IBM) remains a topic of ongoing scientific discussion. In this study, we aimed to explore the involvement of small nerve fibers in IBM using a range of diagnostic methods, including, for the first ...
Dietrich Sturm, Anne‐Katrin Güttsches, Matthias Vorgerd, Peter Schwenkreis, Andrea Westermann, Tineke Greiner, Jan Vollert, Lynn Eitner, Christoph Maier, Johannes Forsting, Elena Enax‐Krumova   +10 more
wiley   +1 more source

DNAJB6 myopathies: Focused review on an emerging and expanding group of myopathies

Frontiers in Molecular Biosciences, 2016
Mutations in the DNAJB6 gene have been associated with the autosomal dominant limb girdle muscular dystrophy type 1D (LGMD1D), a disorder characterized by abnormal protein aggregates and rimmed vacuoles in muscle fibers.
Alessandra Ruggieri, Simona Saredi, Simona Zanotti, Barbara Maria Pasanisi, Lorenzo Maggi, Marina Mora   +5 more
doaj   +1 more source

Muscle Vasculitis: A Novel Delineation of Distinct Subsets of Disease

ACR Open Rheumatology, Volume 7, Issue 6, June 2025.
Objective The objective of this study was to assess the clinical and histopathologic features of muscle vasculitis. Methods The electronic database of SA Pathology, wherein all muscle biopsy samples in South Australia are assessed, was searched (2000–2023), identifying cases of vasculitis.
Thomas Khoo, Sarah Saxon, Barbara Koszyca, Bernice Gutschmidt, Vidya Limaye   +4 more
wiley   +1 more source

Ageing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body Myositis

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 3, June 2025.
ABSTRACT Background Inclusion body myositis (IBM) is the most common acquired myopathy in adults over the age of 50 years, characterised by inflammatory and degenerative features that lead to progressive muscle weakness and physical disability for lack of effective therapies.
Geert M. de Vries, Bob Asselbergh, Alice Monticelli, Peter De Jonghe, Stuart Maudsley, Peter Y. K. Van Den Bergh, Anne Bigot, Jan L. De Bleecker, Biljana Ermanoska, Willem De Ridder, Jonathan Baets   +10 more
wiley   +1 more source

Autophagy in a Mouse Model of Distal Myopathy with Rimmed Vacuoles or Hereditary Inclusion Body Myopathy [PDF]

Autophagy, 2007
Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an autosomal recessive disorder clinically characterized by weakness that initially involves the distal muscles, although other muscles can be affected as well.
May Christine V, Malicdan, Satoru, Noguchi, Ichizo, Nishino   +2 more
openaire   +3 more sources

Implications for soluble iron accumulation, oxidative stress, and glial glutamate release in motor neuron death associated with sporadic amyotrophic lateral sclerosis

Neuropathology, Volume 45, Issue 3, Page 177-201, June 2025.
Oxidative stress in sporadic amyotrophic lateral sclerosis (ALS) has been evidenced by accumulation of oxidatively modified products of nucleic acids, lipids, sugars, and proteins in the motor neuron system of brains and spinal cords obtained at autopsy from the patients.
Noriyuki Shibata, Ikuko Kataoka, Yukinori Okamura, Kumiko Murakami, Yoichiro Kato, Tomoko Yamamoto, Kenta Masui   +6 more
wiley   +1 more source

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Nature Communications
Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy.
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft   +54 more
doaj   +1 more source

A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
In Japanese siblings with multisystem neurodegeneration, including cerebellar ataxia, dystonia, and vertical gaze palsy, we identified compound heterozygous variants in SQSTM1(NM_003900.5): c.1A>G p.(Met1?) in the initial codon, and c.969G>A. An SQSTM1 protein expression assay using urine‐derived cells (UDCs), which were obtained using noninvasive ...
Shinji Masuko, Mitsuto Sato, Katsuya Nakamura, Kohei Hamanaka, Satoko Miyatake, Yuji Inaba, Tomoki Kosho, Naomichi Matsumoto, Yoshiki Sekijima   +8 more
wiley   +1 more source

Serum creatine kinase elevation following tyrosine kinase inhibitor treatment in cancer patients: Symptoms, mechanism, and clinical management

Clinical and Translational Science, Volume 17, Issue 11, November 2024.
Abstract Molecular targeted tyrosine kinase inhibitors (TKIs) have produced unprecedented treatment response in cancer therapy for patients harboring specific oncogenic mutations. While the TKIs are mostly well tolerated, they were reported to increase serum levels of creatine kinase (CK) and cause muscle metabolism‐related toxicity. CK is an essential
Hang Zhang, Kenneth K. W. To
wiley   +1 more source