Results 201 to 210 of about 7,807 (220)

Determination of Tissue Potassium and Sodium Concentrations in Dystrophic Skeletal Muscle Tissue Using Combined Potassium (³⁹K) and Sodium (²³Na) MRI at 7 T. [PDF]

NMR Biomed
Gast LV, Gerhalter T, Türk M, Sapli A, Mathy CS, Heiss R, Baudin PY, Marty B, Uder M, Nagel AM.   +9 more
europepmc   +1 more source

FSHD dRNA isoforms dataset for swanViewer

Jasmine Sakr, Negar Mojgani, Ali Mortazavi   +2 more
openalex   +1 more source

AAV-shDUX4 provides short-term benefits but limited long-term efficacy in a DUX4 mouse model of FSHD. [PDF]

Mol Ther Methods Clin Dev
Sohn S, Reid S, Bowen M, Hudon C, Corbex E, Morel B, Hourde C, Mariot V, Dumonceaux J.   +8 more
europepmc   +1 more source

DUX4 activates common and context-specific intergenic transcripts and isoforms. [PDF]

Sci Adv
Zheng D, van den Heuvel A, Balog J, Willemsen IM, Kloet S, Tapscott SJ, Mahfouz A, van der Maarel SM.   +7 more
europepmc   +1 more source

Effectiveness of the capability approach in rehabilitation for persons with neuromuscular diseases: A controlled before-after study. [PDF]

PLoS One
Pijpers EJ, Bloemen B, Oortwijn WJ, van Engelen BGM, van der Wilt GJ, Groothuis JT, Cup EHC.   +6 more
europepmc   +1 more source

Natural history of facioscapulohumeral muscular dystrophy evaluated by multiparametric quantitative MRI: a prospective cohort study. [PDF]

J Neurol
Paoletti M, Monforte M, Barzaghi L, Tasca G, Bergsland N, Faggioli A, Solazzo F, Manco G, Bortolani S, Torchia E, Ravera B, Deligianni X, Santini F, Ballante E, Figini S, Tartaglione T, Ricci E, Pichiecchio A.   +17 more
europepmc   +1 more source

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Fazioskapulohumerale Muskeldystrophie (FSHD)

2014
Im Erwachsenenalter manifestiert sie sich die FSHD1/FSHD2, um die es im vorliegenden Kapitel geht, i. d. R. mit einer Muskelschwache im Bereich der Schultergurtel-, Oberarm-, Gesichts- und Halsmuskulatur und der distaler Extremitatenmuskeln, insbesondere der Fingerstrecker und Fusheber. Die Muskelschwache ist haufig asymmetrisch ausgepragt.
U. Schara, C. Schneider-Gold
openaire   +2 more sources

Improved characterization of FSHD mutations

Annales de Génétique, 2001
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the shortest alleles of the 3.3kb-tandem repeat array D4Z4 at 4q35. Molecular diagnosis of FSHD depends upon the separation of unusually large alleles by pulse-field electrophoresis after EcoRI and EcoRI/BlnI digestion. The exact number of alleles could not however be directly inferred from the
Y, Zhang, J, Forner, S, Fournet, M, Jeanpierre   +3 more
openaire   +2 more sources

FSHD / OPMD / EDMD / DMI

Neuromuscular Disorders, 2018
P. Drivsholm, L. Busk, T. Nybro, U. Werlauff   +3 more
  +9 more sources