Results 41 to 50 of about 417 (116)

GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation

Case Reports in Neurological Medicine, Volume 2016, Issue 1, 2016., 2016
Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene.
Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan, Mathias Toft   +8 more
wiley   +1 more source

Aquaporin-4 expression in distal myopathy with rimmed vacuoles

BMC Neurology, 2012
Background Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles.
Hoshi Akihiko, Yamamoto Teiji, Kikuchi Saeko, Soeda Tomoko, Shimizu Keiko, Ugawa Yoshikazu   +5 more
doaj   +1 more source

Regulation of physiological and pathological condensates by molecular chaperones

The FEBS Journal, Volume 292, Issue 13, Page 3271-3297, July 2025.
Mounting evidence suggests that stress granules (SGs), dynamic membraneless compartments involved in cellular stress responses, can transition into pathological condensates upon improper disassembly. This review discusses the evidence supporting this notion.
Nadeen Akaree, Valentina Secco, Flonia Levy‐Adam, Amal Younis, Serena Carra, Reut Shalgi   +5 more
wiley   +1 more source

alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy

, 2005
Mutations of the GNE gene are responsible for autosomal recessive hereditary inclusion-body myopathy (HIBM). In this study we searched for the presence of any significant abnormality of alpha-dystroglycan (alpha-DG), a highly glycosylated component of ...
Giardina, Bruno, Gliubizzi, Carla, Pavoni, Ernesto, Gidaro, Teresa, Tonali, Pietro Attilio, Ricci, Enzo, Brancaccio, Andrea, Morosetti, Roberta, Broccolini, Aldobrando, Mirabella, Massimiliano   +9 more
core   +2 more sources

RETRACTED: Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy.

PLoS ONE, 2015
Mutations in the valosin containing protein (VCP) gene cause hereditary Inclusion body myopathy (hIBM) associated with Paget disease of bone (PDB), frontotemporal dementia (FTD), more recently termed multisystem proteinopathy (MSP).
Angèle Nalbandian, Katrina J Llewellyn, Christopher Nguyen, Puya G Yazdi, Virginia E Kimonis   +4 more
doaj   +1 more source

Mitochondrial processes are impaired in hereditary inclusion body myopathy.

, 2008
Contains fulltext : 69402.pdf (Publisher’s version ) (Open Access)Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy.
Mitrani-Rosenbaum, S., Menachem Sadeh, Willems, P.H.G.M., Stella Mitrani-rosenbaum, Itzhaki, Z., Iris Eisenberg, Peter H. G. M. Willems, Novershtern, N., Nir Friedman, Eisenberg, I., Sadeh, M., Michal Becker-cohen, Zohar Itzhaki, Koopman, W.J.H., Friedman, N., Becker-Cohen, M., Noa Novershtern, Werner J. H. Koopman   +17 more
core   +1 more source

Öğrenen organizasyon ve 1'nci HİBM K'lığının öğrenen organizasyon olabilme potansiyelinin değerlendirilmesi

, 1998
Tez (yüksek lisans) - Anadolu ÜniversitesiAnadolu Üniversitesi, Sosyal Bilimler Enstitüsü, İşletme Anabilim DalıKayıt no: 133529Son on yıl içerisinde organizasyonlar teknolojik, ekonomik ve sosyal alanlardaki değişiklere uyum sağlayabilmek için ayakta ...
Hassoy, Ergenekon
core   +1 more source

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

, 2006
The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot.
Gliubizzi C., Ricci E., Di Lella G. M., Broccolini A., Morosetti R., Mirabella M.   +5 more
core   +1 more source

GEOGRAPHICAL INFORMATION SERVICES BASED SOFTWARE AND IMAGING SYSTEM TO SUPPORT THE RADIO DIRECTION FINDING RESULTS

Havacılık ve Uzay Teknolojileri Dergisi, 2014
Finding the position of signal sources has been effectively used by military systems including targeting, positioning, orbiting primarily, as well as in civil applications such as detecting mine sources, observing the natural environment.
Bora Temizel, Ersin Göse, Mustafa Emre Aydemir   +2 more
doaj  

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

, 2001
Hereditary inclusion body myopathy (HIBM; OMIM 600737) is a unique group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous ...
Jacques S. Beckmann, Avidan, Nili, Mitrani-Rosenbaum, S., Friedmann, Adam, Chen, Miriam, Shemesh, M., Olender, T., Eisenberg, I., Barash, Mark, Lancet, D., Hagit Hochner, Lancet, Doron, Iris Eisenberg, Moshe Shemesh, Nili Avidan, Lisa Baumbach, Sadeh, M., Asher, Edna Ben, Chen, M., Potikha, T., Mark Barash, Barash, M., Asher, E. B., Menachem Sadeh, Argov, Z., Hochner, Hagit, Eisenberg, Iris, Adam Friedmann, Doron Lancet, Baumbach, L., Karpati, George, Shmilevich, I., Beckmann, Jacques S, Argov, Zohar, Inna Shmilevich, Shemesh, Moshe, Sadeh, Menachem, Hochner, H., Edna Ben Asher, Avidan, N., Gil Grabov-Nardini, Friedmann, A., Miriam Chen, Tsviya Olender, Walter G. Bradley, Shmilevich, Inna, Beckmann, J. S., Potikha, Tamara, Grabov-Nardini, Gil, Bradley, Walter G, Olender, Tsviya, Zohar Argov, Baumbach, Lisa, Tamara Potikha, Bradley, W. G., Grabov-Nardini, G., Karpati, G., George Karpati, Stella Mitrani-Rosenbaum, Mitrani-Rosenbaum, Stella   +59 more
core   +1 more source