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Nature Genetics|February 16, 2020
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivoMasayuki Nakamori, Gagan B Panigrahi, Stella Lanni, et al.
Nature Medicine|May 31, 2011
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophyCharlotte Fugier, Arnaud F Klein, Caroline Hammer, et al.
Muscle & Nerve|May 11, 2026
Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1Valeria A Sansone, Andrea Lizio, Carola R Ferrari Aggradi, et al.
Orphanet Journal of Rare Diseases|August 17, 2019
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare diseaseLibby Wood, Guillaume Bassez, Corinne Bleyenheuft, et al.
Orphanet Journal of Rare Diseases|September 7, 2018
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare diseaseLibby Wood, Guillaume Bassez, Corinne Bleyenheuft, et al.
Nature Communications|April 12, 2016
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophyFernande Freyermuth, Frédérique Rau, Yosuke Kokunai, et al.
Nature Communications|March 13, 2026
Elucidating genetic backgrounds of myasthenia gravis in Japanese by genome-wide association studies and multi-omics analyses of thymomaHiroyuki Ueda, Tomoya Kubota, Risa Goto, et al.
JAMA Neurology|May 28, 2021
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy SubtypesTheerawat Kumutpongpanich, Masashi Ogasawara, Ayami Ozaki, et al.
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