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Journal of the Neurological Sciences|April 24, 2012
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patientsGianna Ulzi, Marzia Lecchi, Valeria Sansone, et al.International Journal of Molecular Sciences|April 24, 2019
Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1Christine Voellenkle, Alessandra Perfetti, Matteo Carrara, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|November 6, 2016
High-sensitive cardiac troponin T (hs-cTnT) assay as serum biomarker to predict cardiac risk in myotonic dystrophy: A case-control studyRea Valaperta, Maddalena Gaeta, Rosanna Cardani, et al.Acta Neuropathologica|January 13, 2010
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2Anna Vihola, Linda L Bachinski, Mario Sirito, et al.Human Mutation|January 18, 2008
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegiaAlessia Arnoldi, Alessandra Tonelli, Francesca Crippa, et al.JAMA|October 4, 2012
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trialJeffrey M Statland, Brian N Bundy, Yunxia Wang, et al.Muscle & Nerve|April 10, 2020
Guidelines on clinical presentation and management of nondystrophic myotoniasBas C Stunnenberg, Samantha LoRusso, W David Arnold, et al.Human Mutation|June 24, 2018
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channelConcetta Altamura, Sabrina Lucchiari, Dalila Sahbani, et al.Human Mutation|April 2, 2019
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathiesChristoph Bachmann, Faiza Noreen, Nicol C Voermans, et al.Nature Communications|May 24, 2018
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differencesChantal Sellier, Estefanía Cerro-Herreros, Markus Blatter, et al.Pageof 11