Results 101 to 110 of about 3,619 (165)

Association of Diaphragm Involvement Assessed by Ultrasound With Disease Severity in Facioscapulohumeral Muscular Dystrophy. [PDF]

J Cachexia Sarcopenia Muscle
Xu X, Zheng F, Lin X, Qiu L, Chen L, Xu J, Kang L, Chen J, Wu L, Zheng Y, Zeng M, Lin X, He Q, Chen L, Lin F, Wang N, Lin M, Lyu G, Wang Z.   +18 more
europepmc   +1 more source

Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats. [PDF]

Eur J Hum Genet
Salsi V, Losi F, Pini S, Chiara M, Tupler R.   +4 more
europepmc   +1 more source

Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study. [PDF]

PeerJ
Lin X, He Q, Zeng M, Lin Y, Xu X, Chen X, Lin X, Wang Z.   +7 more
europepmc   +1 more source

Visual Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD). [PDF]

Dtsch Arztebl Int
Erdmann H, Abicht A, Becker K.
europepmc   +1 more source

The recent clinical trial of losmapimod for the treatment of facioscapulohumeral muscular dystrophy. [PDF]

Neuromuscul Disord
Bloch RJ, Traficante M, Mariot V, Dumonceaux J.   +3 more
europepmc   +1 more source

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