Results 81 to 90 of about 2,940 (145)

Reply to: "Before Coming to the Conclusion That Inclusion Body Myositis Is a Risk Factor for a Heart Attack, All Influencing Factors Must Be Taken Into Account". [PDF]

Eur J Neurol
Naddaf E.
europepmc   +1 more source

Study of actin mutations linked to muscle disease

, 2008
Imperial Users ...
Feng , Juanjuan, Feng , Juanjuan
core  

A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series. [PDF]

J Med Case Rep
Saleem S, Akbar F, Kirmani S, Khalid E, Khan S.   +4 more
europepmc   +1 more source

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the \u3cem\u3eActa1\u3c/em\u3e H40Y Murine Model of Nemaline Myopathy [PDF]

, 2016
Allen, Kenneth P., Beggs, Alan H., Dasgupta, Mahua, Fitts, Robert, Hardeman, Edna C., Hoffmann, Raymond G., Lawlor, Michael W., Liu, Fujun, Meng, Hui, Pearsall, R. Scott, Tinklenberg, Jennifer, Yang, Lin   +11 more
core   +1 more source

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies. [PDF]

PLoS One
Boonsri P, Yamutai S, Tanutit P, Sattayapornpipat J, Charalsawadi C, Koonalintip P, Sathirapanya P, Setthawatcharawanich S, Leelawattana R, Korathanakhun P.   +9 more
europepmc   +1 more source

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA). [PDF]

J Neuropathol Exp Neurol
Merlet AN, Lacène E, Nelson I, Brochier G, Labasse C, Chanut A, Madelaine A, Beuvin M, Bonne G, Féasson L, Minot MC, Noury JB, Fradin M, Savarese M, Fernández-Eulate G, Behin A, Stojkovic T, Hentschel A, Marcorelles P, Roos A, Evangelista T.   +20 more
europepmc   +1 more source

Multiple symmetric lipomatosis [PDF]

, 1994
Bischof, F., Eckert, P., Klopstock, Thomas, Kottlors, M., Naumann, M., Reichmann, Heinz, Reiners, K., Schalke, B., Seibel, P., Toyka, K.   +9 more
core   +1 more source

A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]

Ann Indian Acad Neurol
Khadilkar SV, Halani HA.
europepmc   +1 more source

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population. [PDF]

Orphanet J Rare Dis
Xing Y, Zhao L, Zhao R, Liu Q, Wang J, Wang L, Zhang W, Guo J, Zhao R, Chang X.   +9 more
europepmc   +1 more source

Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan. [PDF]

Orphanet J Rare Dis, 2023
Mori-Yoshimura M, Suzuki N, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M.   +17 more
europepmc   +1 more source