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Biochemical and Biophysical Research Communications|June 29, 2023
Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disordersAntonella Riva, Michele Iacomino, Chiara Piccardo, et al.
Stem Cell Research|January 6, 2018
Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 geneViviana Meraviglia, Patrizia Benzoni, Sara Landi, et al.
Nature Communications|September 29, 2018
Genetic and pharmacological regulation of the endocannabinoid CB1 receptor in Duchenne muscular dystrophyFabio A Iannotti, Ester Pagano, Ombretta Guardiola, et al.
JIMD Reports|May 1, 2017
Mutations in GMPPB Presenting with Pseudometabolic MyopathyChiara Panicucci, Chiara Fiorillo, Francesca Moro, et al.
Molecular and Cellular Biology|May 9, 2002
Intracellular retention of glycosylphosphatidyl inositol-linked proteins in caveolin-deficient cellsFederica Sotgia, Babak Razani, Gloria Bonuccelli, et al.
EMBO Molecular Medicine|January 3, 2023
Targeting gut dysbiosis against inflammation and impaired autophagy in Duchenne muscular dystrophyHilal Kalkan, Ester Pagano, Debora Paris, et al.
International Journal of Molecular Sciences|January 23, 2024
Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 MutationsPatrizia Benzoni, Elisabetta Gazzerro, Chiara Fiorillo, et al.
The American Journal of Pathology|January 12, 2002
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiencyCarlo Minetti, Massimo Bado, Paolo Broda, et al.
American Journal of Physiology. Cell Physiology|September 30, 2005
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatmentStefania Assereto, Silvia Stringara, Federica Sotgia, et al.
Biochemical and Biophysical Research Communications|February 15, 2015
Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutationGiacomo Brisca, Chiara Fiorillo, Claudia Nesti, et al.
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