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Brain & Development|February 22, 2016
17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndromePia Bernardo, Francesca Madia, Lia Santulli, et al.
Children (Basel, Switzerland)|May 27, 2026
Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical SpectrumDaiana Mariano, Valentina Petrone, Francesca Madia, et al.
Neurocase|April 18, 2019
High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndromePia Bernardo, Luigi Del Gaudio, Francesca Madia, 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.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 18, 2012
TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patientsMarco Luigetti, Amelia Conte, Alessandra Del Grande, et al.
Muscle & Nerve|July 22, 2008
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsiesMarco Luigetti, Amelia Conte, Francesca Madia, et al.
Italian Journal of Pediatrics|October 13, 2021
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variantsMarcello Scala, Midas Anijs, Roberta Battini, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|March 12, 2020
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical settingRita Barone, Mariangela Gulisano, Renata Amore, et al.
Neurogenetics|January 31, 2008
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian familiesFrancesca Madia, Pasquale Striano, Carlo Di Bonaventura, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|May 30, 2003
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneityElena Gennaro, Pierangelo Veggiotti, Michele Malacarne, et al.
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