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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, Man Hung, Valeria A. Sansone, Cynthia Gagnon, Sub Subramony, Richard H. Roxburgh, Johanna Hamel, Jeffrey M. Statland, Bakri Elsheikh, Chris Turner, Jacinda Sampson, Thomas Ragole, Emma Matthews, Benedikt Schoser, Andrea Swenson, Chamindra Laverty, Perry Shieh, Ericka P. Greene, Masanori Takahashi, Matthew Wicklund, Jeanne Dekdebrun, Jennifer Raymond, Erin DeSpain, Charles A. Thornton, Nicholas E. Johnson, Myotonic Dystrophy Clinical Research Network

published 11 Dec 2025

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

Eirlys J. Pijpers, Bart Bloemen, Wija J. Oortwijn, Baziel G. M. van Engelen, Gert Jan van der Wilt, Jan T. Groothuis, Edith H. C. Cup

published 23 Sep 2025

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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, Jun Iwanami, Takahiro Fukazawa, Motoi Kanagawa, Naohito Hato

published 12 Sep 2025

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Signals of complexity and fragmentation in accelerometer data

Els Weinans, Jerrald L. Rector, Sarah Charman, Renae J. Stefanetti, Cecilia Jimenez-Moreno, Gráinne S. Gorman, Ingrid van de Leemput, Daniël van As, René Melis, Baziel van Engelen

published 09 Jul 2025

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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, Tess Harris, Stephen DeWilde, Umar A. R. Chaudhry, Elizabeth Limb, Derek G. Cook

published 01 Mar 2023

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

Mougina K. Eltahir, Masayuki Nakamori, Satoshi Hattori, Takashi Kimura, Hideki Mochizuki, Seiichi Nagano

published 01 Jul 2022

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

Birgit Friedmann-Bette, Holger Lornsen, Mario Parstorfer, Thomas Gwechenberger, Francesca Profit, Marc-André Weber, Alexander Barié

published 14 Oct 2021

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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, Aiman Tariq Baig, Julio Plaza-Diaz, Mehrdad Azimi, Faraz Farooq, Stephen D. Baird, Alex MacKenzie

published 14 Sep 2021

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

Masamitsu Nishi, Takashi Kimura, Masataka Igeta, Mitsuru Furuta, Koichi Suenaga, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Hiroo Yoshikawa

published 14 May 2020

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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, Emily McIlwaine, Sarah A. Cumming, Berit Adam, Ralf Krahe, Jack Puymirat, Benedikt Schoser, Lubov Timchenko, Tetsuo Ashizawa, Charles A. Thornton, Simon Rogers, John D. McClure, Darren G. Monckton

published 14 Apr 2020

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

Albert Rübben, Renate Ursula Wahl, Thomas Eggermann, Edgar Dahl, Nadina Ortiz-Brüchle, Claudio Cacchi

published 10 Mar 2020

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(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

published 22 May 2019

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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, Baili Zhang, Carolina Santamaría-Ulloa, Patricia Cuenca, Ralf Krahe, Darren G. Monckton, Fernando Morales

published 02 May 2019

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