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Neurology International|January 22, 2024
Longitudinal Neuropsychological Assessment of Symptomatic Edema after Subthalamic Nucleus Deep Brain Stimulation Surgery: A Case Series StudySilvia De Ieso, Giulia Di Rauso, Francesco Cavallieri, et al.
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, et al.
Genes|July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the LiteratureGabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Genes|August 26, 2023
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <i>DLX5/6</i> GenesIrene Ambrosetti, Laura Bernardini, Marzia Pollazzon, et al.
Molecular Syndromology|December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature ReviewIlenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
Journal of Clinical Medicine|August 10, 2024
Spontaneous Non-Aneurysmal Convexity Subarachnoid Hemorrhage: A Scoping Review of Different Etiologies beyond Cerebral Amyloid AngiopathyMarialuisa Zedde, Ilaria Grisendi, Federica Assenza, et al.
Brain and Behavior|June 2, 2023
Quantitative dopamine transporter imaging assessment in Parkinson's disease patients carrying GBA gene mutations compared with idiopathic PD patients: A case-control studySara Grisanti, Alessandro Fraternali, Francesco Cavallieri, et al.
Brain Sciences|October 28, 2023
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia SyndromeGiulia Di Rauso, Andrea Castellucci, Francesco Cavallieri, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Genes|July 2, 2021
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous CouplesFrancesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, et al.
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