Myotonic dystrophy

DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1

(2014) O. J. Pettersson et al.   NUCLEIC ACIDS RESEARCH

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011

(2013) C. Turner et al.   NEUROMUSCULAR DISORDERS

Triplet-Primed PCR Is More Sensitive than Southern Blotting–Long PCR for the Diagnosis of Myotonic Dystrophy Type1

(2012) Maria Addis et al.   Genetic Testing and Molecular Biomarkers

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

(2012) Fernando Morales et al.   HUMAN MOLECULAR GENETICS

Electrophysiological Study With Prophylactic Pacing and Survival in Adults With Myotonic Dystrophy and Conduction System Disease

(2012) Karim Wahbi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicing

(2012) Aymeric Ravel-Chapuis et al.   JOURNAL OF CELL BIOLOGY

Endocrine function in 97 patients with myotonic dystrophy type 1

(2012) M. C. Ørngreen et al.   JOURNAL OF NEUROLOGY

The myotonic dystrophies: molecular, clinical, and therapeutic challenges

(2012) Bjarne Udd et al.   LANCET NEUROLOGY

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1 – The patients’ perspective

(2012) D. Hilton-Jones et al.   NEUROMUSCULAR DISORDERS

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

(2011) Martina Minnerop et al.   BRAIN

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2

(2010) Vincenzo Romeo et al.   JOURNAL OF NEUROLOGY

The myotonic dystrophies: diagnosis and management

(2010) C. Turner et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Perspectives on gene therapy in myotonic dystrophy type 1

(2010) Jonathan J. Magaña et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2

(2010) Y. G. Weber et al.   NEUROLOGY

Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1

(2010) E. L. Logigian et al.   NEUROLOGY

Health supervision and anticipatory guidance in adult myotonic dystrophy type 1

(2010) C. Gagnon et al.   NEUROMUSCULAR DISORDERS

Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child

(2009) Marjan De Rademaeker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1

(2009) A. Sistiaga et al.   PSYCHOLOGICAL MEDICINE

Dehydroepiandrosterone for myotonic dystrophy type 1

(2008) I. Penisson-Besnier et al.   NEUROLOGY

Electrocardiographic Abnormalities and Sudden Death in Myotonic Dystrophy Type 1

(2008) William J. Groh et al.   NEW ENGLAND JOURNAL OF MEDICINE