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Human Mutation|December 31, 2025
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital MyopathyNami Altin, Kamel Mamchaoui, Jessica Ohana, et al.
Epilepsia|March 15, 2006
Clinical and genetic findings in 26 Italian patients with Lafora diseaseSilvana Franceschetti, Antonio Gambardella, Laura Canafoglia, et al.
Human Mutation|April 14, 2025
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum DeformityCristina Chelleri, Marcello Scala, Patrizia De Marco, et al.
European Journal of Human Genetics : EJHG|March 26, 2025
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcificationsMarcello Scala, Nancy C P Leong, Thanh Nha Uyen Le, et al.
Cancers|March 29, 2023
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213Marzia Ognibene, Marcello Scala, Michele Iacomino, et al.
Molecular Genetics & Genomic Medicine|August 7, 2025
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)Michela Bellardita, Ferruccio Romano, Ludovica Menta, et al.
Epilepsia|May 25, 2002
Lack of SCN1A mutations in familial febrile seizuresMichela Malacarne, Francesca Madia, Elena Gennaro, et al.
Frontiers in Pediatrics|May 16, 2022
A Phenotypic-Driven Approach for the Diagnosis of WOREE SyndromeAntonella Riva, Giulia Nobile, Thea Giacomini, et al.
Epilepsy Research|April 16, 2003
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancyFrancesca Madia, Elena Gennaro, Massimiliano Cecconi, et al.
Human Molecular Genetics|July 25, 2009
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosisMario Sabatelli, Fabrizio Eusebi, Ammar Al-Chalabi, et al.
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