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Neuromuscular Disorders : NMD|December 28, 2016
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotypeMarcin Bednarz, Bas C Stunnenberg, Benno Kusters, et al.
Neuromuscular Disorders : NMD|May 29, 2024
Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary centerSlavica Ostojić, Gordana Kovačević, Giovanni Meola, et al.
Neural Plasticity|June 18, 2016
Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1Laura Serra, Matteo Mancini, Gabriella Silvestri, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|May 4, 2020
Ventral tegmental area dysfunction affects decision-making in patients with myotonic dystrophy type-1Laura Serra, Marta Scocchia, Giovanni Meola, et al.
Atherosclerosis|November 10, 2017
Cardiac involvement in myotonic dystrophy: The role of troponins and N-terminal pro B-type natriuretic peptideRea Valaperta, Claudia De Siena, Rosanna Cardani, et al.
Neuromuscular Disorders : NMD|July 25, 2022
Cognitive assessment in patients with myotonic dystrophy type 2Stojan Peric, Ilija Gunjic, Neda Delic, et al.
European Journal of Clinical Investigation|May 8, 2015
Gonadal failure is associated with visceral adiposity in myotonic dystrophiesElena Passeri, Enrico Bugiardini, Valeria A Sansone, et al.
Cell Death & Disease|June 30, 2018
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2Marisa Cappella, Alessandra Perfetti, Beatrice Cardinali, et al.
Plos One|April 12, 2014
Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2Alessandra Perfetti, Simona Greco, Pasquale Fasanaro, et al.
Plos One|September 12, 2014
RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1Roscoe Klinck, Angélique Fourrier, Philippe Thibault, et al.
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