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Journal of Medical Genetics|July 31, 2024
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorderValentina Cetica, Mara Cavallin, Maria Luisa Ricci, et al.
Pharmacology|November 17, 2020
Hypersensitivity to Rituximab in ChildrenGiulia Liccioli, Gabriele Simonini, Federico Melani, et al.
European Journal of Medical Genetics|May 15, 2018
TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephalyMara Cavallin, Camille Maillard, Marie Hully, et al.
European Journal of Medical Genetics|August 20, 2018
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restrictionMara Cavallin, Amandine Bery, Camille Maillard, et al.
European Journal of Neurology|February 18, 2026
Real-World Use of Cenobamate in Paediatric Drug-Resistant Epilepsy: Long-Term Efficacy, Safety, and Co-Medication AdjustmentTiziana Pisano, Simona Balestrini, Alessandra Boncristiano, et al.
Neurology. Genetics|February 5, 2021
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, et al.
Brain Communications|January 12, 2026
Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicatorsSimona Pellacani, Simona Balestrini, Edoardo Fino, et al.
European Journal of Medical Genetics|October 1, 2018
Mutations in TBR1 gene leads to cortical malformations and intellectual disabilityNancy Vegas, Mara Cavallin, Tjitske Kleefstra, et al.
European Journal of Medical Genetics|January 7, 2016
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathyAnnie Laquerriere, Marie Gonzales, Yoann Saillour, et al.
American Journal of Medical Genetics. Part A|February 8, 2017
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutationCamille Maillard, Mara Cavallin, Kevin Piquand, et al.
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