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Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms|September 5, 2017
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expressionSamuele Gherardi, Matteo Bovolenta, Chiara Passarelli, et al.
Neuromuscular Disorders : NMD|June 19, 2017
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domainsElizabeth Harris, Umar Burki, Chiara Marini-Bettolo, et al.
Neuromuscular Disorders : NMD|September 28, 2019
Report of a novel ATP7A mutation causing distal motor neuropathyFrancesca Gualandi, Elisabetta Sette, Fernanda Fortunato, et al.
Frontiers in Physiology|July 26, 2021
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and PatientsRachele Rossi, Maria Sofia Falzarano, Hana Osman, et al.
Human Mutation|May 26, 2017
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxiaAlessia Nasca, Chiara Scotton, Irina Zaharieva, et al.
BMC Medical Genetics|August 17, 2012
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotypeSimona Brioschi, Francesca Gualandi, Chiara Scotton, et al.
Frontiers in Genetics|February 12, 2019
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani FamilyStefania Bigoni, Marcella Neri, Chiara Scotton, et al.
Molecular Genetics and Metabolism|August 6, 2013
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibersValeria Guglielmi, Gaetano Vattemi, Francesca Gualandi, et al.
European Journal of Human Genetics : EJHG|January 4, 2020
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophyPietro Spitali, Irina Zaharieva, Stefan Bohringer, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variantsJanneke C van den Bergen, Monika Hiller, Stefan Böhringer, et al.
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