Results 121 to 130 of about 3,762 (173)

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats. [PDF]

Neurology, 2015
Statland JM, Donlin-Smith CM, Tapscott SJ, Lemmers RJ, van der Maarel SM, Tawil R.   +5 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

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus-Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies. [PDF]

Muscle Nerve
Wilks AW, Chahin N.
europepmc   +1 more source

Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent. [PDF]

Ann Indian Acad Neurol
Shah SA, Vishnu VY, Sebastian LJD, Garg A.   +3 more
europepmc   +1 more source

Medical Claim Costs of Facioscapulohumeral Muscular Dystrophy in the United States. [PDF]

Clinicoecon Outcomes Res
Hill AA, Kinoshita J, Deypalan MN, Kolocha M, Hung M, Hon E, Sarraille W, Winegarden W, Ghanjanasak T, Arjomand J.   +9 more
europepmc   +1 more source

Disease burden in Serbian patients with facioscapulohumeral muscular dystrophy. [PDF]

Front Neurol
Ralic B, Albano N, Viric V, Nuredini A, Azanjac AA, Rajic S, Marjanovic A, Tupler R, Heatwole C, Peric S.   +9 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

Interplay between balance, gait kinematic and physical activity level in facioscapulohumeral muscular dystrophy. [PDF]

Sci Rep
Crisafulli O, Sozzi S, Quintiero V, Negro M, Tupler R, Ramat S, Stella GM, Schmid M, D'Antona G.   +8 more
europepmc   +1 more source

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Facioscapulohumeral Dystrophy

Current Neurology and Neuroscience Reports, 2016
Facioscapulohumeral muscular dystrophy (FSHD) is a clinically recognizable and relatively common muscular dystrophy. It is inherited mostly as an autosomal dominant disease or in a minority of cases, in a digenic pattern. The disease manifestation is variable and most likely dependent on genetic and epigenetic factors.
Leo Wang, Rabi Tawil, Tawil Rabi
exaly   +3 more sources