Results 121 to 130 of about 3,828 (168)

DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy. [PDF]

Skelet Muscle
Belayew A, Rosa AL, Zammit PS.
europepmc   +1 more source

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy. [PDF]

Cell Death Dis
Ganassi M, Strafella C, Savarese M, Heher P, Engquist EN, McGuire L, Johari M, De Nicola GF, Bigot A, Mouly V, Bortolani S, Torchia E, Monforte M, Megalizzi D, Sabino A, Ricci E, Giardina E, Zammit PS, Tasca G.   +18 more
europepmc   +1 more source

Response to Letter to the Editor: Explanation of Surveillance Data Used in Hearing Loss, Retinal Abnormality, and Seizures in Facioscapulohumeral Muscular Dystrophy Study. [PDF]

Muscle Nerve
Street N, Kilburn S, Soim A.
europepmc   +1 more source

The participants' perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands - A qualitative study. [PDF]

J Neuromuscul Dis
Stinissen L, Kools J, Bouma S, Lenssen E, Sanders E, Lanser A, de Haas R, van Engelen BG, Oortwijn W, Voermans NC.   +9 more
europepmc   +1 more source

Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy. [PDF]

J Clin Invest
Nakamura K, Ortuste Quiroga HP, Horii N, Fujimaki S, Moroishi T, Nakayama KI, Hino S, Saito Y, Nishino I, Ono Y.   +9 more
europepmc   +1 more source

A pilot study using actigraphy to examine activity performance and its relationship with activity capacity in adults with facioscapulohumeral muscular dystrophy. [PDF]

J Neuromuscul Dis
Koopman NT, Hamel JI, Walker ME, Lewis LM, Sasidharan S, Currence MJ, Tawil RN, Statland JM, Eichinger KJ, MOVE Investigators of the Facioscapulohumeral Muscular Dystrophy Clinical Trial Research Network.   +9 more
europepmc   +1 more source

Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy. [PDF]

Neuromuscul Disord
Wang LH, Hatch MN, McDermott MP, Martens WB, Eichinger K, Lewis L, Walker M, Leung DG, Wagner KR, Sacconi S, Mul K, Shieh PB, Elsheikh B, Butterfield RJ, Johnson NE, Sansone V, Han JJ, Tawil R, Statland JM, ReSolve Investigators of FSHD CTRN.   +19 more
europepmc   +1 more source

Electrical impedance myography captures features of muscle structure measured by MRI and transcriptomic analysis in facioscapulohumeral muscular dystrophy. [PDF]

J Neuromuscul Dis
Wang LH, Sonbas Cobb B, Riem L, DuCharme O, Shaw DW, Walker M, Eichinger K, Lewis L, Tawil R, Hamel JI, Mul K, Blemker SS, Tapscott SJ, Friedman SD, Rutkove SB, Statland JM.   +15 more
europepmc   +1 more source

Facioscapulohumeral muscular dystrophy

, 2018
Yuranga Weerakkody, Mohamed Saber, Craig Hacking   +2 more
openaire   +1 more source

Increased <i>METTL3</i> Expression and m6A Methylation in Myoblasts of Facioscapulohumeral Muscular Dystrophy. [PDF]

Int J Mol Sci
Settas N, Bittel AJ, Chen YW.
europepmc   +1 more source