Results 71 to 80 of about 1,745 (185)

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

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles [PDF]

Journal of Human Genetics, 2011
Distal myopathy with rimmed vacuoles (DMRVs) is an autosomal recessive vacuolar myopathy that has been reported in different ethnic populations with the common mutations of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. We presented the clinical, pathological and genetic characteristics of eight Chinese DMRV patients from ...
Honghao, Li, Qi, Chen, Fuchen, Liu, Xuemei, Zhang, Tao, Liu, Wei, Li, Shuping, Liu, Yuying, Zhao, Bing, Wen, Tingjun, Dai, Pengfei, Lin, Yaoqin, Gong, Chuanzhu, Yan   +12 more
openaire   +2 more sources

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

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone [PDF]

, 2017
Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD) is a dominantly inherited degenerative disorder caused by mutations in the valosin-containing protein (VCP) gene.
Custer, Sara K., Lu, Hongbo, Neumann, Manuela, Taylor, J. Paul, Wright, Alexander C.   +4 more
core  

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

Novel valosin-containing protein mutations associated with multisystem proteinopathy [PDF]

, 2018
Over fifty missense mutations in the gene coding for valosin-containing protein (VCP) are associated with a unique autosomal dominant adult-onset progressive disease associated with combinations of proximo-distal inclusion body myopathy (IBM), Paget's ...
Al-Obeidi, Ebaa, Al-Tahan, Sejad, Grafe, Marjorie, Harati, Yadollah, Kimonis, Virginia, Lakatos, Anita, Omizo, Molly, Palmio, Johanna, Udd, Bjarne, Weiss, Lan, Wicklund, Matt, Yoshioka, Hiroshi   +11 more
core   +1 more source

New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis [PDF]

, 2016
Amyotrophic Lateral Sclerosis (ALS) is characterized by the degeneration of upper and lower motor neurons. Clinical heterogeneity is a well-recognized feature of the disease as age of onset, site of onset and the duration of the disease can vary greatly ...
Conte, Amelia, Lattante, Serena (ORCID:0000-0003-2891-0340), Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Tasca, Giorgio, Zollino, Marcella (ORCID:0000-0003-4871-9519)   +5 more
core   +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

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

Clinicopathologic features of sporadic inclusion body myositis in China [PDF]

, 1970
This study is to investigate the clinical and pathologic features of sporadic inclusion body myositis (sIBM) in China. We retrospectively evaluated the clinical and pathological features of consecutive patients in our department between January 1986 to ...
Huang, Xusheng, Li, Ke, Liu, Jiexiao, Lu, Xianghui, Mao, Yanling, Pu, Chuanqiang   +5 more
core   +2 more sources