Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

Compound loss of muscleblind-like function in myotonic dystrophy

(2013) Kuang-Yung Lee et al.   EMBO Molecular Medicine

Identification of New Dystroglycan Complexes in Skeletal Muscle

(2013) Eric K. Johnson et al.   PLoS One

Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy

(2013) Z. Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PEP-FOLD: an updated de novo structure prediction server for both linear and disulfide bonded cyclic peptides

(2012) P. Thevenet et al.   NUCLEIC ACIDS RESEARCH

Delivery of AAV2/9-Microdystrophin Genes Incorporating Helix 1 of the Coiled-Coil Motif in the C-Terminal Domain of Dystrophin Improves Muscle Pathology and Restores the Level of α1-Syntrophin and α-Dystrobrevin in Skeletal Muscles of mdx Mice

(2011) Taeyoung Koo et al.   HUMAN GENE THERAPY

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel

(2011) Zhen Zhi Tang et al.   HUMAN MOLECULAR GENETICS

Long-term functional adeno-associated virus-microdystrophin expression in the dystrophic CXMDj dog

(2011) Taeyoung Koo et al.   JOURNAL OF GENE MEDICINE

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

(2011) Charlotte Fugier et al.   NATURE MEDICINE

New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats

(2011) François-Xavier Laurent et al.   NUCLEIC ACIDS RESEARCH

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1

(2010) Amanda J. Ward et al.   HUMAN MOLECULAR GENETICS

Dystrophin-deficient zebrafish feature aspects of the Duchenne muscular dystrophy pathology

(2010) Joachim Berger et al.   NEUROMUSCULAR DISORDERS

PLATINUM: a web tool for analysis of hydrophobic/hydrophilic organization of biomolecular complexes

(2009) Timothy V. Pyrkov et al.   BIOINFORMATICS

Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy

(2009) Yi Lai et al.   JOURNAL OF CLINICAL INVESTIGATION

Codon and mRNA Sequence Optimization of Microdystrophin Transgenes Improves Expression and Physiological Outcome in Dystrophic mdx Mice Following AAV2/8 Gene Transfer

(2008) Helen Foster et al.   MOLECULAR THERAPY