Search Results - "DI BELLA, DANIELA"

Highly sensitive spatial transcriptomics at near-cellular resolution with Slide-seqV2 by Stickels, Robert R., Murray, Evan, Kumar, Pawan, Li, Jilong, Marshall, Jamie L., Di Bella, Daniela J., Arlotta, Paola, Macosko, Evan Z., Chen, Fei

“…Measurement of the location of molecules in tissues is essential for understanding tissue formation and function. Previously, we developed Slide-seq, a…”
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Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation by Magri, Stefania, Fracasso, Valentina, Plumari, Massimo, Alfei, Enrico, Ghezzi, Daniele, Gellera, Cinzia, Rusmini, Paola, Poletti, Angelo, Bella, Daniela, Elia, Antonio E., Pantaleoni, Chiara, Taroni, Franco

“…Mitochondrial dynamics and quality control are crucial for neuronal survival and their perturbation is a major cause of neurodegeneration. m‐AAA complex is an…”
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Genetic dissection of the glutamatergic neuron system in cerebral cortex by Matho, Katherine S., Huilgol, Dhananjay, Galbavy, William, He, Miao, Kim, Gukhan, An, Xu, Lu, Jiangteng, Wu, Priscilla, Di Bella, Daniela J., Shetty, Ashwin S., Palaniswamy, Ramesh, Hatfield, Joshua, Raudales, Ricardo, Narasimhan, Arun, Gamache, Eric, Levine, Jesse M., Tucciarone, Jason, Szelenyi, Eric, Harris, Julie A., Mitra, Partha P., Osten, Pavel, Arlotta, Paola, Huang, Z. Josh

“…Diverse types of glutamatergic pyramidal neurons mediate the myriad processing streams and output channels of the cerebral cortex 1 , 2 , yet all derive from…”
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The late and dual origin of cerebrospinal fluid-contacting neurons in the mouse spinal cord by Petracca, Yanina L, Sartoretti, Maria Micaela, Di Bella, Daniela J, Marin-Burgin, Antonia, Carcagno, Abel L, Schinder, Alejandro F, Lanuza, Guillermo M

“…Considerable progress has been made in understanding the mechanisms that control the production of specialized neuronal types. However, how the timing of…”
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Neurogenin3 restricts serotonergic neuron differentiation to the hindbrain by Carcagno, Abel L, Di Bella, Daniela J, Goulding, Martyn, Guillemot, Francois, Lanuza, Guillermo M

“…The development of the nervous system is critically dependent on the production of functionally diverse neuronal cell types at their correct locations. In the…”
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Ascl1 Balances Neuronal versus Ependymal Fate in the Spinal Cord Central Canal by Di Bella, Daniela J., Carcagno, Abel L., Bartolomeu, M. Lucía, Pardi, M. Belén, Löhr, Heiko, Siegel, Nicole, Hammerschmidt, Matthias, Marín-Burgin, Antonia, Lanuza, Guillermo M.

“…Generation of neuronal types at the right time, location, and number is essential for building a functional nervous system. Significant progress has been…”
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A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children by Ciaccio, Claudia, Pantaleoni, Chiara, Taroni, Franco, Di Bella, Daniela, Magri, Stefania, Lamantea, Eleonora, Ghezzi, Daniele, Valente, Enza Maria, Nigro, Vincenzo, D’Arrigo, Stefano

“…Background: Cerebellar atrophy is a neuroradiological definition that categorizes conditions heterogeneous for clinical findings, disease course, and genetic…”
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Molecular logic of cellular diversification in the mouse cerebral cortex by Di Bella, Daniela J., Habibi, Ehsan, Stickels, Robert R., Scalia, Gabriele, Brown, Juliana, Yadollahpour, Payman, Yang, Sung Min, Abbate, Catherine, Biancalani, Tommaso, Macosko, Evan Z., Chen, Fei, Regev, Aviv, Arlotta, Paola

“…The mammalian cerebral cortex has an unparalleled diversity of cell types, which are generated during development through a series of temporally orchestrated…”
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Influence of a Functional Polymorphism Within the Promoter of the Serotonin Transporter Gene on the Effects of Total Sleep Deprivation in Bipolar Depression by Benedetti, Francesco, Serretti, Alessandro, Colombo, Cristina, Campori, Euridice, Barbini, Barbara, di Bella, Daniela, Smeraldi, Enrico

“…OBJECTIVE: A functional polymorphism in the transcriptional control region upstream of the coding sequence of the 5-hydroxytryptamine transporter (5-HTT) has…”
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Complex Ataxia‐Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia by Nanetti, Lorenzo, Magri, Stefania, Fichera, Mario, Castaldo, Anna, Nigri, Anna, Pinardi, Chiara, Mongelli, Alessia, Sarro, Lidia, Pareyson, Davide, Grisoli, Marina, Gellera, Cinzia, Di Bella, Daniela, Mariotti, Caterina, Taroni, Franco

“…ABSTRACT Background and Objectives Spinocerebellar ataxias (SCAs) are autosomal dominant disorders with extensive clinical and genetic heterogeneity. We…”
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Brain Chimeroids reveal individual susceptibility to neurotoxic triggers by Antón-Bolaños, Noelia, Faravelli, Irene, Faits, Tyler, Andreadis, Sophia, Kastli, Rahel, Trattaro, Sebastiano, Adiconis, Xian, Wei, Anqi, Sampath Kumar, Abhishek, Di Bella, Daniela J., Tegtmeyer, Matthew, Nehme, Ralda, Levin, Joshua Z., Regev, Aviv, Arlotta, Paola

“…Interindividual genetic variation affects the susceptibility to and progression of many diseases 1 , 2 . However, efforts to study how individual human brains…”
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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48 by Magri, Stefania, Nanetti, Lorenzo, Gellera, Cinzia, Sarto, Elisa, Rizzo, Elena, Mongelli, Alessia, Ricci, Benedetta, Fancellu, Roberto, Sambati, Luisa, Cortelli, Pietro, Brusco, Alfredo, Bruzzone, Maria Grazia, Mariotti, Caterina, Di Bella, Daniela, Taroni, Franco

“…This study aimed to unravel the genetic factors underlying missing heritability in spinocerebellar ataxia type 17 (SCA17) caused by polyglutamine-encoding…”
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Parkinsonism and Nigrostriatal Damage Secondary to CSF1R‐Related Primary Microgliopathy by Bonvegna, Salvatore, Straccia, Giulia, Golfrè Andreasi, Nico, Elia, Antonio Emanuele, Marucci, Gianluca, Di Bella, Daniela, Cilia, Roberto, Eleopra, Roberto

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From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations by Gatti, Marta, Magri, Stefania, Nanetti, Lorenzo, Sarto, Elisa, Di Bella, Daniela, Salsano, Ettore, Pantaleoni, Chiara, Mariotti, Caterina, Taroni, Franco

“…Pathogenic variants in polynucleotide kinase 3′‐phosphatase (PNKP) gene have been associated with two distinct clinical presentations: autosomal recessive…”
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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 by Taroni, Franco, Di Bella, Daniela, Lazzaro, Federico, Brusco, Alfredo, Plumari, Massimo, Battaglia, Giorgio, Pastore, Annalisa, Finardi, Adele, Cagnoli, Claudia, Tempia, Filippo, Frontali, Marina, Veneziano, Liana, Sacco, Tiziana, Boda, Enrica, Brussino, Alessandro, Bonn, Florian, Castellotti, Barbara, Baratta, Silvia, Mariotti, Caterina, Gellera, Cinzia, Fracasso, Valentina, Magri, Stefania, Langer, Thomas, Plevani, Paolo, Di Donato, Stefano, Muzi-Falconi, Marco

“…Franco Taroni and colleagues report the identification of mutations in AFG3L2 that cause dominant spinocerebellar ataxia type 28. Along with paraplegin, AFG3L2…”
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Author Correction: Molecular logic of cellular diversification in the mouse cerebral cortex by Di Bella, Daniela J., Habibi, Ehsan, Stickels, Robert R., Scalia, Gabriele, Brown, Juliana, Yadollahpour, Payman, Yang, Sung Min, Abbate, Catherine, Biancalani, Tommaso, Macosko, Evan Z., Chen, Fei, Regev, Aviv, Arlotta, Paola

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Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype by Gatti, Marta, Magri, Stefania, Di Bella, Daniela, Sarto, Elisa, Taroni, Franco, Mariotti, Caterina, Nanetti, Lorenzo

“…Introduction Spastic paraplegia type 46 (SPG46) is a rare autosomal recessive hereditary spastic paraplegia, caused by mutations in the non-lysosomal…”
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Hypomyelinating leukodystrophies in adults: Clinical and genetic features by Di Bella, Daniela, Magri, Stefania, Benzoni, Chiara, Farina, Laura, Maccagnano, Carmelo, Sarto, Elisa, Moscatelli, Marco, Baratta, Silvia, Ciano, Claudia, Piacentini, Sylvie H. M. J., Draghi, Lara, Mauro, Elena, Pareyson, Davide, Gellera, Cinzia, Taroni, Franco, Salsano, Ettore

“…Background and purpose Little is known about hypomyelinating leukodystrophies (HLDs) in adults. The aim of this study was to investigate HLD occurrence,…”
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Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders by Cozzi, Marta, Magri, Stefania, Tedesco, Barbara, Patelli, Guglielmo, Ferrari, Veronica, Casarotto, Elena, Chierichetti, Marta, Pramaggiore, Paola, Cornaggia, Laura, Piccolella, Margherita, Galbiati, Mariarita, Rusmini, Paola, Crippa, Valeria, Mandrioli, Jessica, Pareyson, Davide, Pisciotta, Chiara, D’Arrigo, Stefano, Ratti, Antonia, Nanetti, Lorenzo, Mariotti, Caterina, Sarto, Elisa, Pensato, Viviana, Gellera, Cinzia, Di Bella, Daniela, Cristofani, Riccardo M., Taroni, Franco, Poletti, Angelo

“…Mutations targeting distinct domains of the neuron-specific kinesin KIF5A associate with different neurodegenerative/neurodevelopmental disorders, but the…”
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ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype by Nanetti, Lorenzo, Sarto, Elisa, Castaldo, Anna, Magri, Stefania, Mongelli, Alessia, Rossi Sebastiano, Davide, Canafoglia, Laura, Grisoli, Marina, Malaguti, Chiara, Rivieri, Francesca, D’Amico, Maria Chiara, Di Bella, Daniela, Franceschetti, Silvana, Mariotti, Caterina, Taroni, Franco

“…Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is characterized by slowly…”
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