Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

(2013) Sabrina Sacconi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PABPN1: molecular function and muscle disease

(2013) Ayan Banerjee et al.   FEBS Journal

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

(2013) Sally Spendiff et al.   HUMAN MOLECULAR GENETICS

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

(2013) Maxime Ferreboeuf et al.   HUMAN MOLECULAR GENETICS

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

(2013) Natacha Broucqsault et al.   HUMAN MOLECULAR GENETICS

Multiple Protein Domains Contribute to Nuclear Import and Cell Toxicity of DUX4, a Candidate Pathogenic Protein for Facioscapulohumeral Muscular Dystrophy

(2013) Edgardo Daniel Corona et al.   PLoS One

Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

(2013) Yvonne D. Krom et al.   PLoS Genetics

Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient

(2012) Yvonne D. Krom et al.   AMERICAN JOURNAL OF PATHOLOGY

Facioscapulohumeral muscular dystrophy

(2012) Silvère M. van der Maarel et al.   CURRENT OPINION IN NEUROLOGY

Nuclear movement during myotube formation is microtubule and dynein dependent and is regulated by Cdc42, Par6 and Par3

(2012) Bruno Cadot et al.   EMBO REPORTS

Deciphering transcription dysregulation in FSH muscular dystrophy

(2012) Melanie Ehrlich et al.   JOURNAL OF HUMAN GENETICS

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

Gain of RNA function in pathological cases: Focus on myotonic dystrophy

(2011) A.F. Klein et al.   BIOCHIMIE

DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

(2011) Linda N. Geng et al.   DEVELOPMENTAL CELL

Immunodetection of Human Double Homeobox 4

(2011) Linda N. Geng et al.   HYBRIDOMA

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

(2011) Charlotte Fugier et al.   NATURE MEDICINE

Selective silencing of mutated mRNAs in DM1 by using modified hU7-snRNAs

(2010) Virginie François et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

(2010) Lauren Snider et al.   PLoS Genetics

Therapeutic Targeting of Nuclear Protein Import in Pathological Cell Conditions

(2009) M. N. Chahine et al.   PHARMACOLOGICAL REVIEWS