Results 141 to 150 of about 57,206 (164)

SMCHD1 Is Dispensable for Repeat-Induced FMR1 Hypermethylation in Fragile X Pluripotent Stem Cells. [PDF]

Int J Mol Sci
Aviel U, Kababw-Florentin A, Abu Diab M, Drier Y, Epsztejn-Litman S, Eiges R.   +5 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

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies. [PDF]

Nat Commun
Yeow D, Reis ALM, Stevanovski I, Njo N, Rudaks LI, Grosz BR, Sy JS, Kemp L, Chintalaphani SR, Chin M, Stoll M, Zhu D, Liang C, Morris KA, Hannaford A, Shandiz E, Ahmad KE, El-Wahsh S, Reddel SW, Boland-Freitas R, Ghaoui R, Barnes S, Sturm J, Willard A, Jasinarachchi M, Hawke S, Simon NG, Worgan L, Manser D, Tchan M, Griffith NC, Davis RL, Fahey MC, Sue CM, McCombe PA, Ng K, Kennerson ML, Cheong PL, Kumar KR, Deveson IW.   +39 more
europepmc   +1 more source

Mobility assessment of patients with facioscapulohumeral dystrophy

Clinical Biomechanics, 2007
Background. Facioscapulohumeral muscular dystrophy is the third most common form of inherited myopathies with a prevalence of 1:20,000. Since both muscle involvement and disease progression are heterogeneous and unpredictable, quantitative assessment ...
Claudia Mazzà, Marco Iosa, Enzo Ricci
exaly   +2 more sources

The heart in becker muscular dystrophy, facioscapulohumeral dystrophy, and bethlem myopathy

Muscle and Nerve, 1992
We report a study, assessing involvement of the heart in 33 familial cases of Becker muscular dystrophy (BMD), 31 familiar cases of facioscapulohumeral (FSH) dystrophy, and 27 familial cases of Bethlem myopathy.
Marianne de Visser
exaly   +2 more sources

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Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7

EMBO Molecular Medicine, 2021
Peter S Zammit, Christopher Banerji
exaly  

Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy

Trends in Molecular Medicine, 2021
Angela Lek, Alec M DeSimone, Monkol Lek
exaly  

Experiences of patients with facioscapulohumeral dystrophy with facial weakness: a qualitative study

Disability and Rehabilitation, 2022
Karlien Mul, Baziel van Engelen, Ietske Siemann   +2 more
exaly  

Chronic Pain in Persons With Myotonic Dystrophy and Facioscapulohumeral Dystrophy

Archives of Physical Medicine and Rehabilitation, 2008
Gregory Carter, Craig M. McDonald, Mark P Jensen   +2 more
exaly