Results 211 to 220 of about 8,309 (264)

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. [PDF]

Clin Genet
Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SA, Voermans NC, Lemmers RJLF.   +20 more
europepmc   +1 more source

Novel biomarkers of changes in muscle mass or muscle pathology [PDF]

, 2017
Arvanitidis, Athanasios
core  

A 5-year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials. [PDF]

Muscle Nerve
Kools J, Vincenten S, van Engelen BGM, Voet NBM, Merkies I, Horlings CGC, Voermans NC, Mul K.   +7 more
europepmc   +1 more source

The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India. [PDF]

Eur J Hum Genet
Vishnu VY, Lemmers RJLF, Reyaz A, Mishra R, Ahmad T, van der Vliet PJ, Kretkiewicz MM, Macken WL, Efthymiou S, Dominik N, Morrow JM, Bhatia R, Wilson LA, Houlden H, Hanna MG, Bugiardini E, van der Maarel SM, Srivastava MVP.   +17 more
europepmc   +1 more source

Symptom onset and cellular pathology in facioscapulohumeral muscular dystrophy is accelerated by cigarette smoking

, 2023
Banerji CRS, Heher P, Hogan J, Katz N, Haidar HB, Keegan MD, Cernik C, Tawil R, Patel K, Zammit PS, Statland JM.   +10 more
europepmc   +1 more source

Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing. [PDF]

J Transl Med
Huang M, Zhang Q, Jiao J, Shi J, Xu Y, Zhang C, Zhou R, Liu W, Liang Y, Chen H, Wang Y, Xu Z, Hu P.   +12 more
europepmc   +1 more source

IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy. [PDF]

J Neuromuscul Dis
Greco A, Mul K, Jaeger MH, Dos Santos JC, Koenen H, de Jong L, Mann R, Fütterer J, Netea MG, Pruijn GJM, van Engelen BGM, Joosten LAB.   +11 more
europepmc   +1 more source

Single-cell spatial transcriptomics reveals a dystrophic trajectory following a developmental bifurcation of myoblast cell fates in facioscapulohumeral muscular dystrophy. [PDF]

Genome Res
Chen L, Kong X, Johnston KG, Mortazavi A, Holmes TC, Tan Z, Yokomori K, Xu X.   +7 more
europepmc   +1 more source

Development of a therapeutic strategy for facioscapulohumeral muscular dystrophy

, 2017
Anne-Charlotte Marsollier
openalex   +1 more source