Results 141 to 150 of about 8,309 (264)

Pain and the Alpha-Sleep Anomaly: A Mechanism of Sleep Disruption in Facioscapulohumeral Muscular Dystrophy [PDF]

, 2013
Giacomo Della Marca, Roberto Frusciante, Catello Vollono, Elisabetta Iannaccone, Serena Dittoni, Anna Losurdo, Elisa Testani, Valentina Gnoni, Salvatore Colicchio, Chiara Di Blasi, Carmen Erra, Salvatore Mazza, Enzo Ricci   +12 more
openalex   +1 more source

The history of research on facioscapulohumeral muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary neuromuscular disease which is divided into FSHD1 and FSHD2. After years of research, FSHD has established complete molecular diagnostic methods, in which Southern blotting is commonly ...
Cheng ZHANG, Huan LI
doaj  

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry [PDF]

, 2014
Libby Wood, Teresinha Evangelista, Fiona Norwood, Richard W. Orrell, Marita Pohlschmidt, Mark Busby, Andrew Graham, David Hilton‐Jones, Cheryl Longman, Peter Lunt, Mark Roberts, Stuart Watt, Suzanne M. Watt, Tracey Willis, Hanns Lochmüller   +14 more
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P557: Preimplantation genetic diagnosis for facioscapulohumeral muscular dystrophy

Genetics in Medicine Open, 2023
Hagit Shani, Baruch Feldman, Noa Harel Inbar, Haike Reznik-Wolf, Elon Pras   +4 more
doaj   +1 more source

Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy

, 2011
Ebe Pastorello, Michelangelo Cao, Carlo P. Trevisan   +2 more
openalex   +1 more source

Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report [PDF]

, 2021
Leo H. Wang, Laura Johnstone, Michael Bindschadler, Stephen J. Tapscott, Seth D. Friedman   +4 more
openalex   +1 more source

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy. [PDF]

Genes (Basel), 2023
Kovanda A, Lovrečić L, Rudolf G, Babic Bozovic I, Jaklič H, Leonardis L, Peterlin B.   +6 more
europepmc   +1 more source

Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles

, 2012
Giorgio Tasca, Mario Pescatori, Mauro Monforte, Massimiliano Mirabella, Elisabetta Iannaccone, Roberto Frusciante, Tiziana Cubeddu, Francesco Laschena, P Ottaviani, Enzo Ricci   +9 more
openalex   +2 more sources

Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy [PDF]

, 2016
Katy Eichinger, Chad Heatwole, Susanne Heininger, Nikia Stinson, Carly Matichak Stock, Carla Grosmann, Kathryn R. Wagner, Rabi Tawil, Jeffrey Statland   +8 more
openalex   +1 more source

Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy. [PDF]

Neurol Genet
Heatwole CR, Luebbe E, Hamel J, Mongiovi PC, Ciafaloni E, Dilek N, Martens WB, Weber DR, Rashid H, Allen McKeown J, Smith CH, Howell S, Rosero SZ, Eichinger K, Baker LS, Dekdebrun JM, Hilbert JE, Varma A, Thornton CA, McDermott MP, Moxley RT.   +20 more
europepmc   +1 more source