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Designed U7 small nuclear RNA antisense expression cassettes inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 over-expressing cells and FSHD patient myotubes

Molecular Therapy — Nucleic Acids ◽

10.1016/j.omtn.2020.12.004 ◽

2020 ◽

Author(s):

Afrooz Rashnonejad ◽

Gholamhossein Amini Chermahini ◽

Noah K. Taylor ◽

Nicolas Wein ◽

Scott Q. Harper

Keyword(s):

Small Nuclear Rna ◽

Antisense Expression ◽

Fshd Patient ◽

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Pain and quality of life in the UK FSHD patient registry

Neuromuscular Disorders ◽

10.1016/j.nmd.2015.06.108 ◽

2015 ◽

Vol 25 ◽

pp. S214

Author(s):

T. Evangelista ◽

L. Wood ◽

M. Pohlschmidt ◽

C. Longman ◽

M. Roberts ◽

...

Keyword(s):

Quality Of Life ◽

Patient Registry ◽

Fshd Patient ◽

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UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

Orphanet Journal of Rare Diseases ◽

10.1186/1750-1172-9-s1-p6 ◽

2014 ◽

Vol 9 (Suppl 1) ◽

pp. P6 ◽

Author(s):

Libby Wood ◽

Teresinha Evangelista ◽

Fiona Norwood ◽

Richard Orrell ◽

Marita Pohlschmidt ◽

...

Keyword(s):

Muscular Dystrophy ◽

Facioscapulohumeral Muscular Dystrophy ◽

Patient Registry ◽

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Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes

10.1002/pmic.200600056 ◽

2006 ◽

Vol 6 (19) ◽

pp. 5303-5321 ◽

Author(s):

Barbara Celegato ◽

Daniele Capitanio ◽

Mario Pescatori ◽

Chiara Romualdi ◽

Beniamina Pacchioni ◽

...

Keyword(s):

Fshd Patient ◽

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