Results 131 to 140 of about 7,807 (220)

Decision letter: An in silico FSHD muscle fiber for modeling DUX4 dynamics and predicting the impact of therapy

, 2023

openalex   +1 more source

ISEV2025 Abstract Book

Journal of Extracellular Vesicles, Volume 14, Issue S1, October 2025.
wiley   +1 more source

Characterizing Mechanical Changes in the Biceps Brachii Muscle in Mild Facioscapulohumeral Muscular Dystrophy Using Shear Wave Elastography

Diagnostics
There is no general consensus on evaluating disease progression in facioscapulohumeral muscular dystrophy (FSHD). Recently, shear wave elastography (SWE) has been proposed as a noninvasive diagnostic tool to assess muscle stiffness in vivo.
Benedict Kleiser, Manuela Zimmer, Filiz Ateş, Justus Marquetand   +3 more
doaj   +1 more source

Post‐Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models [PDF]

, 2023
Renatta Knox, Jocelyn O. Eidahl, Lindsay M. Wallace, Sarah G. Choudury, Afrooz Rashnonejad, Katelyn Daman, Matthew J. Guggenbiller, Nizar Y. Saad, Michael E. Hoover, Liwen Zhang, Owen E. Branson, Charles P. Emerson, Michael A. Freitas, Scott Q. Harper   +13 more
openalex   +1 more source

Symptomatic treatment in facioscapulohumeral dystrophy (FSHD): a case study [PDF]

Magdalena Bitner-Bieleszuk
openalex   +1 more source

Respiratory pattern in a FSHD pediatric population [PDF]

, 2017
Caroline R. van Kernebeek, Charlotte Seijger, Rianne J.M. Goselink, Yvonne F. Heijdra, Baziel G.M. van Engelen   +4 more
openalex   +1 more source

Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD [PDF]

, 2017
Lindsay M. Wallace, Nizar Y. Saad, Nettie K. Pyne, Allison M. Fowler, Jocelyn O. Eidahl, Jacqueline S. Domire, Danielle A. Griffin, Adam Herman, Zarife Sahenk, Louise R. Rodino‐Klapac, Scott Q. Harper   +10 more
openalex   +1 more source

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients [PDF]

, 2017
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres.
Brodherr, Turgut, Bruchertseifer, Vera, Eger, Katharina, Fischer, Dirk, Fürst, Dieter O., Germing, Alfried, Hellenbroich, Yorck, Heyer, Christoph M., Huebner, Angela, Ketelsen, Uwe-Peter, Kirschner, Janbernd, Kley, Rudolf A., Lochmüller, Hanns, Müller, Klaus, Peters, Sören A., Reum, Conny, Schröder, Rolf, Tolksdorf, Karen, van der Ven, Peter F. M., Vorgerd, Matthias, Walter, Maggie C.   +20 more
core  

AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD [PDF]

, 2018
Carlee R. Giesige, Lindsay M. Wallace, Kristin N. Heller, Jocelyn O. Eidahl, Nizar Y. Saad, Allison M. Fowler, Nettie K. Pyne, Mustafa Al-Kharsan, Afrooz Rashnonejad, Gholamhossein Amini Chermahini, Jacqueline S. Domire, Diana Mukweyi, Sara E. Garwick-Coppens, S. Guckes, K. John McLaughlin, Kathrin Meyer, Louise R. Rodino‐Klapac, Scott Q. Harper   +17 more
openalex   +1 more source

Kako prepoznati FSHD?

, 2011
Kako bismo prepoznali FSHD, potrebno misliti na: • Genetsku mišićnu bolest • Učestalost u populaciji • Dob i spol bolesnika • Poznavati kliničku sliku i pažljivo gledati bolesnika: o Atrofična o Asimetrična o Selektivna o Descendentna zahvaćenost mišića • Slušati bolesnika (bolovi u mišićima) • Genetske osobitosti: o Autosomna dominantna bolest o De ...
openaire   +1 more source