Results 81 to 90 of about 2,944 (151)

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

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

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

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

Whole-exome sequencing reveals GRHPR gene mutation in a 4-year-old girl with chronic kidney disease: a case report. [PDF]

Ann Med Surg (Lond)
Farooq B, Qureshi ZH, Lodhi MS, Faisal M, Khan E, Khalid M.   +5 more
europepmc   +1 more source

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement [PDF]

, 1996
Becker, A.E. (Anton), Bouwsma, G. (G.), Busch, H.F.M. (Herman), Kooj, A.J. (Anneke), Ledderhof, T.M. (T.), Res, J. (Jan), Troost, D. (Dirk), Visser, M. (Marianne) de, Voogt, W.G. (W.) de   +8 more
core   +1 more source

Study of actin mutations linked to muscle disease

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

Assessment of Lectin Staining Biomarkers using a Murine Model of GNE Myopathy. [PDF]

MicroPubl Biol
Parker O, Woods J, Rothkopf M, Drach D, Wetzel HN, Crowe KE.   +5 more
europepmc   +1 more source

Screening for late-onset Pompe disease in Internal Medicine departments in Spain. [PDF]

Orphanet J Rare Dis, 2023
López-Rodríguez M, Torralba-Cabeza MA, de Pedro IP, Rivera A, Gil RS, Gómez-Belda A, de la Peña JLP, de Los Santos Moreno A, Selva-O'Callaghan A, Gárate IG, García AG, Hurtado R, de Ureta PT, Barba-Romero MÁ, Milisenda JC, Grau-Junyent JM, POMPE study group.   +16 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