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Minerva Pediatrica|February 21, 2018
Sudden infant death syndrome: the role of multidisciplinary teams. Experience of the SIDS-ALTE Center of Liguria RegionAntonella Palmieri, Ezio Fulcheri, Paolo Nozza, et al.
Neurogenetics|May 4, 2012
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotideCecilia Mancini, Giovanna Vaula, Laura Scalzitti, et al.
Human Molecular Genetics|February 14, 2012
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutationsAngela Lanciotti, Maria S Brignone, Paola Molinari, et al.
Journal of Human Genetics|March 31, 2021
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutationDavide Tonduti, Eleonora Mura, Silvia Masnada, et al.
Biochemical and Biophysical Research Communications|October 10, 2007
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changesRoberta Biancheri, Antonio Falace, Alessandra Tessa, et al.
Brain Sciences|March 6, 2021
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center ExperienceVittorio Riso, Salvatore Rossi, Tommaso F Nicoletti, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|September 5, 2021
Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literatureEliseo Picchi, Valentina Ferrazzoli, Giulia Pizzicannella, et al.
International Journal of Molecular Sciences|June 24, 2022
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related DisordersRomina Romaniello, Ludovica Pasca, Elena Panzeri, et al.
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.
Neurogenetics|April 26, 2018
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genesLorena Travaglini, Chiara Aiello, Fabrizia Stregapede, et al.
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