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JIMD Reports|March 2, 2017
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 MutationFrancesca Minoia, Marta Bertamino, Paolo Picco, et al.
Pediatric Neurology|January 1, 2016
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular DystrophyRiccardo Papa, Francesca Madia, Domenico Bartolomeo, et al.
Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.
The American Journal of Pathology|January 4, 2007
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formationWilliam Schubert, Federica Sotgia, Alex W Cohen, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|April 1, 2009
Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disordersIsabelle Mercier, Jean-Francois Jasmin, Stephanos Pavlides, et al.
British Journal of Pharmacology|August 4, 2018
Effects of non-euphoric plant cannabinoids on muscle quality and performance of dystrophic mdx miceFabio Arturo Iannotti, Ester Pagano, Aniello Schiano Moriello, et al.
Neurogenetics|July 4, 2019
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findingsMarcello Scala, Giorgia Brigati, Chiara Fiorillo, et al.
Cannabis and Cannabinoid Research|May 17, 2021
An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant EpilepsyFrancesca Marchese, Maria Stella Vari, Ganna Balagura, et al.
Frontiers in Neurology|December 24, 2021
New Trends and Most Promising Therapeutic Strategies for Epilepsy TreatmentAntonella Riva, Alice Golda, Ganna Balagura, et al.
European Journal of Human Genetics : EJHG|April 28, 2011
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutationsMafalda Cacciottolo, Gelsomina Numitone, Stefania Aurino, et al.
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