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Neurogastroenterology and Motility|November 23, 2023
Chronic intestinal pseudo-obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatmentsGuido Basilisco, Margherita Marchi, Marina Coletta
Current Opinion in Neurology|August 7, 2025
Small fiber neuropathy: expanding diagnosis with unsettled etiologyGrazia Devigili, Margherita Marchi, Giuseppe Lauria
American Journal of Medical Genetics. Part A|April 28, 2009
A CDKL5 mutated child with precocious pubertyVeronica Saletti, Laura Canafoglia, Paola Cambiaso, et al.
Molecular Therapy. Methods & Clinical Development|October 9, 2023
Archival skin biopsy specimens as a tool for miRNA-based diagnosis: Technical and post-analytical considerationsMirna Andelic, Margherita Marchi, Stefania Marcuzzo, et al.
Brain : a Journal of Neurology|October 31, 2019
Diagnostic criteria for small fibre neuropathy in clinical practice and researchGrazia Devigili, Sara Rinaldo, Raffaella Lombardi, et al.
Pain|November 20, 2021
Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9AMargherita Marchi, Ilaria D'Amato, Mirna Andelic, et al.
Epilepsy & Behavior : E&B|December 8, 2007
Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literatureMaria Pintaudi, Maria Giuseppina Baglietto, Roberto Gaggero, et al.
Journal of the Peripheral Nervous System : JPNS|July 7, 2018
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusiaMargherita Marchi, Vincenzo Provitera, Maria Nolano, et al.
Frontiers in Genetics|August 27, 2025
A unique case of late-onset CIPO caused by a missense mutation in the long isoform of <i>FLNA</i>Ilaria D'Amato, Enrico Ganguzza, Guido Basilisco, et al.
Psychiatry Research|July 9, 2010
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3AGuia Guffanti, Luisa Strik Lievers, Maria Teresa Bonati, et al.
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