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Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|September 9, 2020
Respiratory muscle involvement in <i>HNRNPDL</i> LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patientEdoardo Malfatti, Denise Cassandrini, Anna Rubegni, et al.
Healthcare (Basel, Switzerland)|March 25, 2022
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial DisordersJacopo Baldacci, Marco Calderisi, Chiara Fiorillo, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 3, 2019
Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutationClaudia Nesti, Anna Rubegni, Deborah Tolomeo, et al.
Journal of the Neurological Sciences|January 29, 2014
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemiaAnna Rubegni, Elena Cardaioli, Elena Chini, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|January 18, 2021
Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reportsClaudia Dosi, Anna Rubegni, Denise Cassandrini, et al.
Journal of the Neurological Sciences|March 22, 2017
SPG2 mimicking multiple sclerosis in a family identified using next generation sequencingAnna Rubegni, Carla Battisti, Alessandra Tessa, et al.
Journal of the Neurological Sciences|August 29, 2012
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutationElena Cardaioli, Edoardo Malfatti, Carla Battisti, et al.
Neuromuscular Disorders : NMD|December 17, 2018
Autophagic vacuolar myopathy caused by a CLN3 mutation. A case reportFrancesca Moro, Anna Rubegni, Francesca Pochiero, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 8, 2015
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?Paola Da Pozzo, Anna Rubegni, Alessandra Rufa, et al.
Frontiers in Cellular Neuroscience|July 6, 2016
The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation MedicineSimona Pellacani, Federico Sicca, Cherubino Di Lorenzo, et al.
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