Results 111 to 120 of about 7,807 (220)

Growing up with FSHD. Characteristics of early-onset FSHD and childhood FSHD [PDF]

, 2020
Promotor : Engelen, B.G.M. van Co-promotores : Erasmus, C.E., Voermans, N.C.
openaire  

Combined Lumbar-Sacral Plexus Block in Facioscapulohumeral Muscular Dystrophy for Hip Fracture Surgery: A Case Report

Turkish Journal of Anaesthesiology and Reanimation
Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy that can affect individuals of all age groups. Its prevalence is reported to be 0.4-1 in 10,000 people. Because of the low occurrence of FSHD, anaesthetic management is primarily based
Mete Manici, İlayda Kalyoncu, Cemil Cihad Gedik, Mehmet Ali Deveci, Yavuz Gürkan   +4 more
doaj   +1 more source

Attenuation of the wake of a sphere in an intense incident turbulence with large length scales [PDF]

, 2010
We report an investigation of the wake of a sphere immersed in a uniform turbulent flow for sphere Reynolds numbers ranging from 100 to 1000. An original experimental setup has been designed to generate a uniform flow convecting an isotropic turbulence ...
Amoura, Zouhir, Billet, Anne-Marie, Risso, Frédéric, Roig, Véronique   +3 more
core   +2 more sources

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies [PDF]

, 2016
Rhabdomyolysis is often due to a combination of environmental trigger(s) and genetic predisposition; however, the underlying genetic cause remains elusive in many cases.
Barresi, R, Bushby, K, Childs, A-M, Davis, MR, Desikan, M, Feng, L, Fialho, D, Gardiner, AR, Hanna, MG, Hilton-Jones, D, Holton, JL, Houlden, H, Jungbluth, H, Laing, NG, Lamont, PJ, Manzur, AY, Marsh, J, Murphy, E, Parton, M, Phadke, R, Pitceathly, RDS, Quinlivan, R, Ravenscroft, G, Scalco, RS, Schapira, AH, Turner, C, Wallefeld, W   +26 more
core   +1 more source

Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature

Applied Sciences
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant genetic disease, which is caused by the mistaken expression of double homeobox protein 4 protein 4 (DUX4) in skeletal muscle.
Qi Xie, Guangmei Ma, Yafeng Song
doaj   +1 more source

Фамилен, генетично верифициран случай на фациоскапулохумерална мускулна дистрофия с ранно начало

Българска неврология, 2020
Фациоскапулохумералната мускулна дистрофия е третата най-често срещана форма на мускулна дистрофия след Duchenne мускулна дистрофия и миотонична мускулна дистрофия с честота 1:15 000-20 000 здрави хора. От генетична гледна точка се различават 2 подтипа –
Maya Koleva, V. Bojinova, D. Bogdanova, T. Todorov, A. Todorova   +4 more
doaj  

The radial arrangement of the human chromosome 7 in the lymphocyte cell nucleus is associated with chromosomal band gene density [PDF]

, 2008
This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ Springer-Verlag 2008.In the nuclei of human lymphocytes, chromosome territories are distributed according to the average gene density of ...
A Bolzer, A Ono, AM Boutanaev, B Dutrillaux, BA Boggs, C Federico, C Federico, C Federico, C Federico, C Federico, Catia Daniela Cantarella, CM Clemson, Concetta Federico, D Zink, E Lukasova, ED Andrulis, EV Volpi, G Bernardi, G D’Onofrio, H Tanabe, H Tanabe, HA Foster, I Solovei, IHGSC (International Human Genome Sequencing Consortium), J Ferreira, J Strouboulis, J Zhou, JA Croft, JJ Roix, JM Bridger, K Kupper, KE Brown, L Andreozzi, M Cockell, M Costantini, M Neusser, N Gilbert, N Sadoni, NV Petrova, Patrizia Di Mare, PS Masny, S Boyle, S D’Antoni, S Saccone, S Saccone, S Saccone, S Saccone, Sabrina Tosi, Salvatore Saccone, SW Scherer, T Cremer, TS Furey, U Francke, WA Bickmore   +53 more
core   +1 more source

A rare case of myasthenia gravis with coexisting muscular dystrophy [PDF]

, 2014
Myasthenia gravis (MG) is an autoimmune disease in which antibodies are directed against postsynaptic membrane of neuromuscular junction, resulting in muscle weakness and fatigability.
Aftab, Sommayya, Hamid, M Haroon, Sultan, Tipu   +2 more
core   +1 more source

Lymphocytes contribute to DUX4 target genes in FSHD muscle biopsies [PDF]

, 2019
Christopher R. S. Banerji, Maryna Panamarova, Peter S. Zammit   +2 more
openalex   +1 more source

1st FSHD European Trial Network workshop:Working towards trial readiness across Europe

, 2021
Nicol C. Voermans, Marj Bravo, George W. Padberg, Pascal Laforêt, Nens van Alfen, Shahram Attarian, Umesh A. Badrising, Enrico Bugiardini, Patricia González, R. Carlier, I. Desguerre, Jordi Díaz‐Manera, Julie Dumonceaux, Baziel G.M. van Engelen, Teresinha Evangelista, Sundeep Khosla, Adolfo López de Munain, Silvère M. van der Maarel, Alexandre Méjat, Mauro Monforte, Federica Montagnese, Karlien Mul, Piraye Oflazer, B. Porter, S. Quijano-Roy, Enzo Ricci, Sabrina Sacconi, Valeria Sansone, Benedikt Schoser, Jeffrey Statland, Eva Stumpe, Giorgio Tasca, Rabi Tawil, C. Turner, John Vissing   +34 more
openalex   +2 more sources