Results 41 to 50 of about 828 (162)

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

BMC Neurology, 2007
Background Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment.
Dorward Heidi, Ciccone Carla, Sonies Barbara, Harris-Love Michael, Shrader Joseph, Manoli Irini, Joe Galen, Rakocevic Goran, Sparks Susan, Krasnewich Donna, Huizing Marjan, Dalakas Marinos C, Gahl William A   +12 more
doaj   +1 more source

Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice. [PDF]

PLoS ONE, 2012
Mutations in the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, result in distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (HIBM) in humans.
Mitutoshi Ito, Kazushi Sugihara, Tomoya Asaka, Tadashi Toyama, Toru Yoshihara, Kengo Furuichi, Takashi Wada, Masahide Asano   +7 more
doaj   +1 more source

SU(3) realization of the rigid asymmetric rotor within the IBM [PDF]

, 1999
It is shown that the spectrum of the asymmetric rotor can be realized quantum mechanically in terms of a system of interacting bosons. This is achieved in the SU(3) limit of the interacting boson model by considering higher-order interactions between the
A. Arima, A. Arima, A. Arima, A. Arima, A. Arima, A. Bohr, A. E. L. Dieperink, A. E. L. Dieperink, A. Leviatan, A. Leviatan, A. S. Davydov, B. R. Judd, C. Bahri, D. R. Bes, F. Iachello, G. Vanden Berghe, H. Ui, J. Carvalho, J. N. Ginocchio, J. P. Draayer, J. P. Elliott, J. P. Elliott, J. P. Elliott, J. Wilets, K. Heyde, Liao Ji-zhi, Liao Ji-zhi, M. Sugita, N. V. Zamfir, Nadya A. Smirnova, O. Castaños, P. Rochford, P. Van Isacker, P. Van Isacker, Piet Van Isacker, R. F. Casten, T. Otsuka, Y. Leschber, Yuri F. Smirnov   +38 more
core   +5 more sources

A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/ hereditary inclusion body myopathy, a sugar-deficient myopathy: a review

Therapeutic Advances in Neurological Disorders, 2010
Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy (hIBM), is a moderately progressive hereditary muscle disorder affecting young adults.
May Christine V. Malicdan, Satoru Noguchi, Ichizo Nishino   +2 more
doaj   +1 more source

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

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

Quantum Tunneling in Nuclear Fusion [PDF]

, 1997
Recent theoretical advances in the study of heavy ion fusion reactions below the Coulomb barrier are reviewed. Particular emphasis is given to new ways of analyzing data, such as studying barrier distributions; new approaches to channel coupling, such as
A. B. Balantekin, Abe, M., Ackermann, D., Ackermann, D., Ackermann, D., Aguiar, C. E., Andres, M. V., Aprahamian, A., Arima, A., Aritomo, Y., Baba, C. V. K., Back, B. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Bass, R., Beckerman, M., Beckerman, M., Bertulani, C., Bierman, J. D., Bierman, J. D., Bjornholm, S., Bonasera, A., Brandan, M. E., Brink, D. M., Brink, D. M., Brink, D. M., Broglia, R. A., Broglia, R. A., Caldeira, A. O., Canto, L. F., Casten, R. F., Casten, R. F., Charlop, A., Chase, D. M., Christley, J. A., Cole, M. W., Dasgupta, M., Dasgupta, M., Dasso, C. H., Dasso, C. H., Dasso, C. H., Dasso, C. H., Dasso, C. H., Dasso, C. H., Denisov, V. Y., Denisov, V. Y., DiGregorio, D. E., DiGregorio, D. E., DiGregorio, D. E., Esbensen, H., Esbensen, H., Esbensen, H., Esbensen, H., Esbensen, H., Esbensen, H., Fernandez-Niello, J. O., Fischer, R. D., Galetti, D., Galetti, D., Ginocchio, J. N., Gomez-Camacho, J., Hagino, K., Hagino, K., Hagino, K., Hagino, K., Halbert, M. L., Hill, D. L., Hofmann, S., Hussein, M. S., Hussein, M. S., Hänggi, P., Imanishi, B., Inui, M., Iwamoto, A., Iwamoto, A., Izumoto, T., Jacobs, P. M., Jahnke, U., Jiang, C. L., Kim, K.-H., Kodama, T., Krappe, H. J., Krappe, H. J., Kruppa, A. T., Kuyucak, S., Kuyucak, S., Kuyucak, S., Kuyucak, S., Landowne, S., Leigh, J. R., Leigh, J. R., Lemmon, R. C., Lindsay, R., Morton, C. R., Möller, P., Müller, B., N. Takigawa, Nagarajan, M. A., Nagarajan, M. A., Poffe, N., Prasad, N. V. S. V., Rehm, K. E., Reisdorf, W., Reisdorf, W., Rhodes-Brown, M. J., Rowley, N., Rowley, N., Rowley, N., Rowley, N., Rowley, N., Sagawa, H., Sahm, C.-C., Satchler, G. R., Schicker, R., Stefanini, A. M., Stefanini, A. M., Stefanini, A. M., Stefanini, A. M., Stefanini, A. M., Stokstad, R. G., Stokstad, R. G., Stokstad, R. G., Takigawa, N., Takigawa, N., Takigawa, N., Takigawa, N., Takigawa, N., Takigawa, N., Takigawa, N., Tanimura, O., Tanimura, O., Thompson, I. J., Timmers, H., Vandenbosch, R., Vandenbosch, R., Vandenbosch, R., von Oertzen, W., Wei, J. X., Wong, C. Y., Wu, J. Q., Wuosmaa, A. H., Yoshida, A.   +149 more
core   +2 more sources

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. [PDF]

PLoS ONE, 2017
GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA).
Yiumo Michael Chan, Paul Lee, Steve Jungles, Gabrielle Morris, Jaclyn Cadaoas, Alison Skrinar, Michel Vellard, Emil Kakkis   +7 more
doaj   +1 more source

Sequestosome‐1 (p62) expression reveals chaperone‐assisted selective autophagy in immune‐mediated necrotizing myopathies

Brain Pathology, Volume 30, Issue 2, Page 261-271, March 2020., 2020
Abstract Diffuse myofiber necrosis in the context of inflammatory myopathy is the hallmark of immune‐mediated necrotizing myopathy (IMNM). We have previously shown that skeletal muscle fibers of IMNM patients may display nonrimmed vacuoles and sarcoplasmic irregularities. The dysfunctional chaperone activity has been linked to the defective assembly of
Norina Fischer, Corinna Preuße, Josefine Radke, Debora Pehl, Yves Allenbach, Udo Schneider, Eugen Feist, Vincent von Casteleyn, Katrin Hahn, Tobias Ruck, Sven G. Meuth, Hans‐Hilmar Goebel, Rose Graf, Andrew Mammen, Olivier Benveniste, Werner Stenzel   +15 more
wiley   +1 more source

Hereditary Inclusion Body Myopathy

Pediatric Neurology Briefs, 1998
A new familial, autosomal dominant, myopathy and variant of hereditary inclusion body myopathy (HIBM) is described in 19 members of a large Swedish family followed in the Departments of Pediatrics, Genetics, and Pathology, Sahlgrenska University Hospital,
J Gordon Millichap
doaj   +1 more source

Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy [PDF]

Int J Mol Sci
Inclusion body myositis (IBM) is a slowly progressive disorder belonging to the idiopathic inflammatory myopathies, and it represents the most common adult-onset acquired myopathy. The main clinical features include proximal or distal muscular asymmetric
Piga D, Zanotti S, Ripolone M, Napoli L, Ciscato P, Gibertini S, Maggi L, Fortunato F, Rigamonti A, Ronchi D, Comi G, Corti S, Sciacco M.   +12 more
europepmc   +3 more sources