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Molecular and Cellular Neurosciences|July 16, 2013
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cystsStefania Petrini, Gaetana Minnone, Marianna Coccetti, et al.
Neurobiology of Disease|February 25, 2014
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesisMaria S Brignone, Angela Lanciotti, Sergio Visentin, et al.
Neurobiology of Disease|August 5, 2018
GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathyXabier Elorza-Vidal, Sònia Sirisi, Héctor Gaitán-Peñas, et al.
Neurobiology of Disease|December 10, 2025
Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunctionAngela Lanciotti, Maria Stefania Brignone, Chiara De Nuccio, et al.
Human Molecular Genetics|February 25, 2016
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytesAngela Lanciotti, Maria Stefania Brignone, Sergio Visentin, et al.
Cells|September 9, 2022
The CaMKII/MLC1 Axis Confers Ca2+-Dependence to Volume-Regulated Anion Channels (VRAC) in AstrocytesMaria Stefania Brignone, Angela Lanciotti, Antonio Michelucci, et al.
Scientific Reports|September 29, 2016
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsyFederico Sicca, Elena Ambrosini, Maria Marchese, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 3, 2026
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experienceJacopo Sartorelli, Davide Tonduti, Elena Ambrosini, et al.
Human Molecular Genetics|May 6, 2014
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotypeElena Ambrosini, Federico Sicca, Maria S Brignone, et al.
Brain : a Journal of Neurology|May 5, 2023
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedemaEmma M J Passchier, Sven Kerst, Eelke Brouwers, et al.
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