Facioscapulohumeral muscular dystrophy

Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?

(2011) Robin B. Fitzsimons   NEUROMUSCULAR DISORDERS

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

(2011) Silvère M. van der Maarel et al.   TRENDS IN MOLECULAR MEDICINE

Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution

(2010) Richard J.L.F. Lemmers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene

(2010) Andreas Leidenroth et al.   BMC EVOLUTIONARY BIOLOGY

Characterization of genomic structures and expression profiles of three tandem repeats of a mouse double homeobox gene:Duxbl

(2010) Shey-Lin Wu et al.   DEVELOPMENTAL DYNAMICS

Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment

(2010) Joerg-Patrick Stübgen et al.   JOURNAL OF NEUROLOGY

Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families

(2010) Gillian Spurlock et al.   MUSCLE & NERVE

Clinical features of facioscapulohumeral muscular dystrophy 2

(2010) J. C. de Greef et al.   NEUROLOGY

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

Bilateral Coats’ response in a female patient leads to diagnosis of facioscapulohumeral muscular dystrophy

(2010) Sherry J. Bass et al.   OPTOMETRY

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

(2010) Lauren Snider et al.   PLoS Genetics

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

(2009) ML Mostacciuolo et al.   CLINICAL GENETICS

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

(2009) Lauren Snider et al.   HUMAN MOLECULAR GENETICS

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

(2009) Jessica C. de Greef et al.   HUMAN MUTATION

Biphasic Myopathic Phenotype of Mouse DUX, an ORF within Conserved FSHD-Related Repeats

(2009) Darko Bosnakovski et al.   PLoS One

Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)

(2009) Weihua Zeng et al.   PLoS Genetics

An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies

(2008) Darko Bosnakovski et al.   EMBO JOURNAL

Pearls in the junk: Dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy

(2008) Petr Dmitriev et al.   NEUROMUSCULAR DISORDERS