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Stem Cell Research|May 4, 2024
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vectorRodolfo Tonin, Federica Feo, Silvia Falliano, et al.
European Journal of Human Genetics : EJHG|January 27, 2019
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneityElena Cellini, Annalisa Vetro, Valerio Conti, et al.
Neurology|March 15, 2015
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of functionValerio Conti, Patrizia Aracri, Laura Chiti, et al.
Scientific Reports|May 21, 2026
Optimized nuclei isolation and snRNA-seq reveal oligodendrocyte pathway dysregulation in MOGHE brain tissue from pediatric patientsClara Tuccari di San Carlo, Roberto Semeraro, Valentina Cetica, et al.
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|February 12, 2024
Switching of biological therapy to dupilumab in comorbid patients with severe asthma and CRSwNPCecilia Rosso, Eugenio De Corso, Valerio Conti, et al.
Biomedical Optics Express|July 5, 2021
Large-scale, cell-resolution volumetric mapping allows layer-specific investigation of human brain cytoarchitectureIrene Costantini, Giacomo Mazzamuto, Matteo Roffilli, et al.
Translational Psychiatry|January 18, 2024
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathyMatteo Lenge, Simona Balestrini, Antonio Napolitano, et al.
The American Journal of Pathology|March 2, 2011
Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1Aldamaria Puliti, Pia Irene Anna Rossi, Gianluca Caridi, et al.
International Journal of Cancer|March 21, 2007
C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotesLuo Yin, Aldamaria Puliti, Elena Bonora, et al.
Epilepsy Research|December 12, 2023
Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetaseAnna Maria Buccoliero, Chiara Caporalini, Selene Moscardi, et al.
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