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Myotonic dystrophy

Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study

Karlien Mul, Kate Eichinger, [ ... ], Myotonic Dystrophy Clinical Research Network

Effectiveness of the capability approach in rehabilitation for persons with neuromuscular diseases: A controlled before-after study

Eirlys J. Pijpers, Bart Bloemen, [ ... ], Edith H. C. Cup

Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis

Rie Asayama, Kaori Tanaka-Nishikubo, [ ... ], Naohito Hato

Signals of complexity and fragmentation in accelerometer data

Els Weinans, Jerrald L. Rector, [ ... ], Baziel van Engelen

Prevalence of co-morbidity and history of recent infection in patients with neuromuscular disease: A cross-sectional analysis of United Kingdom primary care data

Iain M. Carey, Niranjanan Nirmalananthan, [ ... ], Derek G. Cook

Pharmacotherapy alleviates pathological changes in human direct reprogrammed neuronal cell model of myotonic dystrophy type 1

Mougina K. Eltahir, Masayuki Nakamori, [ ... ], Seiichi Nagano

Gene expression changes in vastus lateralis muscle after different strength training regimes during rehabilitation following anterior cruciate ligament reconstruction

Birgit Friedmann-Bette, Holger Lornsen, [ ... ], Alexander Barié

High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1)

Nafisa Neault, Sean O’Reilly, [ ... ], Alex MacKenzie

Differences in splicing defects between the grey and white matter in myotonic dystrophy type 1 patients

Masamitsu Nishi, Takashi Kimura, [ ... ], Hiroo Yoshikawa

Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial

Adam Kurkiewicz, Anneli Cooper, [ ... ], Darren G. Monckton

Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype

Albert Rübben, Renate Ursula Wahl, [ ... ], Claudio Cacchi

(CTG)n repeat-mediated dysregulation of MBNL1 and MBNL2 expression during myogenesis in DM1 occurs already at the myoblast stage

Laurène M. André, Remco T. P. van Cruchten, Marieke Willemse, Derick G. Wansink

Analysis of mutational dynamics at the DMPK (CTG)_n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

Eyleen Corrales, Melissa Vásquez, [ ... ], Fernando Morales

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