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2. Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy

Author

Lenge, Matteo, Balestrini, Simona, Napolitano, Antonio, Mei, Davide, Conti, Valerio, Baldassarri, Giulia, Trivisano, Marina, Pellacani, Simona, Macconi, Letizia, Longo, Daniela, Rossi Espagnet, Maria Camilla, Cappelletti, Simona, D’Incerti, Ludovico, Barba, Carmen, Specchio, Nicola, and Guerrini, Renzo

Published
2024
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3. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

Author

Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia, Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj, Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Koichihara, Reiko, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper, van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian, Guerrini, Renzo, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, and Argilli, Emanuela

Subjects
abnormal myelination, epilepsy, epileptic encephalopathy, hemolytic anemia, infantile spasms, ion channels, leak cation currents, osmotic stress, white matter abnormality, Humans, Brain Diseases, Ion Channels, Brain, Intellectual Disability, Phenotype
Abstract

By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms underlying associations of stretch-activated ion channels with human disease is limited. Here, we describe 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment associated with progressive neurodegenerative brain changes carrying ten distinct heterozygous variants of TMEM63B, encoding for a highly conserved stretch-activated ion channel. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense, including the recurrent p.Val44Met in 7/17 individuals, or in-frame, all affecting conserved residues located in transmembrane regions of the protein. In 12 individuals, hematological abnormalities co-occurred, such as macrocytosis and hemolysis, requiring blood transfusions in some. We modeled six variants (p.Val44Met, p.Arg433His, p.Thr481Asn, p.Gly580Ser, p.Arg660Thr, and p.Phe697Leu), each affecting a distinct transmembrane domain of the channel, in transfected Neuro2a cells and demonstrated inward leak cation currents across the mutated channel even in isotonic conditions, while the response to hypo-osmotic challenge was impaired, as were the Ca2+ transients generated under hypo-osmotic stimulation. Ectopic expression of the p.Val44Met and p.Gly580Cys variants in Drosophila resulted in early death. TMEM63B-associated DEE represents a recognizable clinicopathological entity in which altered cation conductivity results in a severe neurological phenotype with progressive brain damage and early-onset epilepsy associated with hematological abnormalities in most individuals.

Published
2023

4. Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Author

Chung, Changuk, Yang, Xiaoxu, Bae, Taejeong, Vong, Keng Ioi, Mittal, Swapnil, Donkels, Catharina, Westley Phillips, H, Li, Zhen, Marsh, Ashley PL, Breuss, Martin W, Ball, Laurel L, Garcia, Camila Araújo Bernardino, George, Renee D, Gu, Jing, Xu, Mingchu, Barrows, Chelsea, James, Kiely N, Stanley, Valentina, Nidhiry, Anna S, Khoury, Sami, Howe, Gabrielle, Riley, Emily, Xu, Xin, Copeland, Brett, Wang, Yifan, Kim, Se Hoon, Kang, Hoon-Chul, Schulze-Bonhage, Andreas, Haas, Carola A, Urbach, Horst, Prinz, Marco, Limbrick, David D, Gurnett, Christina A, Smyth, Matthew D, Sattar, Shifteh, Nespeca, Mark, Gonda, David D, Imai, Katsumi, Takahashi, Yukitoshi, Chen, Hsin-Hung, Tsai, Jin-Wu, Conti, Valerio, Guerrini, Renzo, Devinsky, Orrin, Silva, Wilson A, Machado, Helio R, Mathern, Gary W, Abyzov, Alexej, Baldassari, Sara, Baulac, Stéphanie, and Gleeson, Joseph G

Subjects
Genetics, Pediatric, Neurodegenerative, Epilepsy, Neurosciences, Human Genome, Brain Disorders, Biotechnology, Clinical Research, Stem Cell Research, Congenital Structural Anomalies, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Multiomics, Brain, Mutation, Malformations of Cortical Development, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosaic mutations, and cause intractable epilepsy. Identifying the genetic causes of MCD has been a challenge, as mutations remain at low allelic fractions in brain tissue resected to treat condition-related epilepsy. Here we report a genetic landscape from 283 brain resections, identifying 69 mutated genes through intensive profiling of somatic mutations, combining whole-exome and targeted-amplicon sequencing with functional validation including in utero electroporation of mice and single-nucleus RNA sequencing. Genotype-phenotype correlation analysis elucidated specific MCD gene sets associated with distinct pathophysiological and clinical phenotypes. The unique single-cell level spatiotemporal expression patterns of mutated genes in control and patient brains indicate critical roles in excitatory neurogenic pools during brain development and in promoting neuronal hyperexcitability after birth.

Published
2023

5. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Author

Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, and Taylor, Jenny C.

Published
2023
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7. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Author

Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, and Guerrini, Renzo

Published
2023
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8. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy

Author

Pelorosso, Cristiana, Watrin, Françoise, Conti, Valerio, Buhler, Emmanuelle, Gelot, Antoinette, Yang, Xiaoxu, Mei, Davide, McEvoy-Venneri, Jennifer, Manent, Jean-Bernard, Cetica, Valentina, Ball, Laurel L, Buccoliero, Anna Maria, Vinck, Antonin, Barba, Carmen, Gleeson, Joseph G, Guerrini, Renzo, and Represa, Alfonso

Subjects
Rare Diseases, Neurosciences, Epilepsy, Genetics, Neurodegenerative, Tuberous Sclerosis, Brain Disorders, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Child, Drug Resistant Epilepsy, Female, Hemimegalencephaly, Humans, Malformations of Cortical Development, Malformations of Cortical Development, Group I, Mice, Mosaicism, Mutation, Neurons, Ribosomal Protein S6, TOR Serine-Threonine Kinases, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Single germline or somatic activating mutations of mammalian target of rapamycin (mTOR) pathway genes are emerging as a major cause of type II focal cortical dysplasia (FCD), hemimegalencephaly (HME) and tuberous sclerosis complex (TSC). A double-hit mechanism, based on a primary germline mutation in one allele and a secondary somatic hit affecting the other allele of the same gene in a small number of cells, has been documented in some patients with TSC or FCD. In a patient with HME, severe intellectual disability, intractable seizures and hypochromic skin patches, we identified the ribosomal protein S6 (RPS6) p.R232H variant, present as somatic mosaicism at ~15.1% in dysplastic brain tissue and ~11% in blood, and the MTOR p.S2215F variant, detected as ~8.8% mosaicism in brain tissue, but not in blood. Overexpressing the two variants independently in animal models, we demonstrated that MTOR p.S2215F caused neuronal migration delay and cytomegaly, while RPS6 p.R232H prompted increased cell proliferation. Double mutants exhibited a more severe phenotype, with increased proliferation and migration defects at embryonic stage and, at postnatal stage, cytomegalic cells exhibiting eccentric nuclei and binucleation, which are typical features of balloon cells. These findings suggest a synergistic effect of the two variants. This study indicates that, in addition to single activating mutations and double-hit inactivating mutations in mTOR pathway genes, severe forms of cortical dysplasia can also result from activating mutations affecting different genes in this pathway. RPS6 is a potential novel disease-related gene.

Published
2019

9. A versatile clearing agent for multi-modal brain imaging

Author

Costantini, Irene, Ghobril, Jean-Pierre, Di Giovanna, Antonino Paolo, Mascaro, Anna Letizia Allegra, Silvestri, Ludovico, Müllenbroich, Marie Caroline, Onofri, Leonardo, Conti, Valerio, Vanzi, Francesco, Sacconi, Leonardo, Guerrini, Renzo, Markram, Henry, Iannello, Giulio, and Pavone, Francesco Saverio

Subjects
Quantitative Biology - Neurons and Cognition, Physics - Medical Physics
Abstract

Extensive mapping of neuronal connections in the central nervous system requires high-throughput um-scale imaging of large volumes. In recent years, different approaches have been developed to overcome the limitations due to tissue light scattering. These methods are generally developed to improve the performance of a specific imaging modality, thus limiting comprehensive neuroanatomical exploration by multimodal optical techniques. Here, we introduce a versatile brain clearing agent (2,2'-thiodiethanol; TDE) suitable for various applications and imaging techniques. TDE is cost-efficient, water-soluble and low-viscous and, more importantly, it preserves fluorescence, is compatible with immunostaining and does not cause deformations at sub-cellular level. We demonstrate the effectiveness of this method in different applications: in fixed samples by imaging a whole mouse hippocampus with serial two-photon tomography; in combination with CLARITY by reconstructing an entire mouse brain with light sheet microscopy and in translational research by imaging immunostained human dysplastic brain tissue., Comment: in Scientific Reports 2015

Published
2015
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11. Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector

Author

Tonin, Rodolfo, primary, Feo, Federica, additional, Falliano, Silvia, additional, Ferri, Lorenzo, additional, Giunti, Laura, additional, Calamai, Martino, additional, Procopio, Elena, additional, Mari, Francesco, additional, Conti, Valerio, additional, Fanelli, Ilaria, additional, Bambi, Franco, additional, Guerrini, Renzo, additional, and Morrone, Amelia, additional

Published
2023
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12. Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial

Author

Galardi, Francesca, De Luca, Francesca, Biagioni, Chiara, Migliaccio, Ilenia, Curigliano, Giuseppe, Minisini, Alessandro M., Bonechi, Martina, Moretti, Erica, Risi, Emanuela, McCartney, Amelia, Benelli, Matteo, Romagnoli, Dario, Cappadona, Silvia, Gabellini, Stefano, Guarducci, Cristina, Conti, Valerio, Biganzoli, Laura, Di Leo, Angelo, and Malorni, Luca

Published
2021
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13. International consensus recommendations on the diagnostic work-up for malformations of cortical development

Author

Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., and Di Donato, Nataliya

Published
2020
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15. Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy

Author

Guerrini, Renzo, primary, Lenge, Matteo, additional, Balestrini, Simona, additional, Napolitano, Antonio, additional, Mei, Davide, additional, Conti, Valerio, additional, Baldassarri, Giulia, additional, Trivisano, Marina, additional, Pellacani, Simona, additional, Macconi, Letizia, additional, Longo, Daniela, additional, Espagnet, Maria Camilla Rossi, additional, Cappelletti, Simona, additional, d'Incerti, Ludovico, additional, Barba, Carmen, additional, and Specchio, Nicola, additional

Published
2023
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18. The landscape of epilepsy-related GATOR1 variants

Author

Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Jr, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., and Baulac, Stéphanie

Published
2019
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19. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Author

Vetro, Annalisa, primary, Pelorosso, Cristiana, additional, Balestrini, Simona, additional, Masi, Alessio, additional, Hambleton, Sophie, additional, Argilli, Emanuela, additional, Conti, Valerio, additional, Giubbolini, Simone, additional, Barrick, Rebekah, additional, Bergant, Gaber, additional, Writzl, Karin, additional, Bijlsma, Emilia K., additional, Brunet, Theresa, additional, Cacheiro, Pilar, additional, Mei, Davide, additional, Devlin, Anita, additional, Hoffer, Mariëtte J.V., additional, Machol, Keren, additional, Mannaioni, Guido, additional, Sakamoto, Masamune, additional, Menezes, Manoj P., additional, Courtin, Thomas, additional, Sherr, Elliott, additional, Parra, Riccardo, additional, Richardson, Ruth, additional, Roscioli, Tony, additional, Scala, Marcello, additional, von Stülpnagel, Celina, additional, Smedley, Damian, additional, Torella, Annalaura, additional, Tohyama, Jun, additional, Koichihara, Reiko, additional, Hamada, Keisuke, additional, Ogata, Kazuhiro, additional, Suzuki, Takashi, additional, Sugie, Atsushi, additional, van der Smagt, Jasper J., additional, van Gassen, Koen, additional, Valence, Stephanie, additional, Vittery, Emma, additional, Malone, Stephen, additional, Kato, Mitsuhiro, additional, Matsumoto, Naomichi, additional, Ratto, Gian Michele, additional, Guerrini, Renzo, additional, Pochiero, Francesca, additional, Mari, Francesco, additional, Ramesh, Venkateswaran, additional, Capra, Valeria, additional, Mancardi, Margherita, additional, Keren, Boris, additional, Mignot, Cyiril, additional, Lulli, Matteo, additional, Parks, Kendall, additional, Griffin, Helen, additional, Brugger, Melanie, additional, Nigro, Vincenzo, additional, Hirata, Yuko, additional, Peterlin, Borut, additional, Maki, Ryuto, additional, Nitta, Yohei, additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Bevers, Roel, additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boustred, Christopher R., additional, Brittain, Helen, additional, Brown, Matthew A., additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Giess, Adam, additional, Griffin, John N., additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Kousathanas, Athanasios, additional, Lahnstein, Lea, additional, Lakey, Anna, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, McEntagart, Meriel, additional, Minneci, Federico, additional, Mitchell, Jonathan, additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, O’Donovan, Peter, additional, Odhams, Chris A., additional, Patch, Christine, additional, Perez-Gil, Daniel, additional, Pereira, Marina B., additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smith, Samuel C., additional, Sosinsky, Alona, additional, Stuckey, Alexander, additional, Tanguy, Mélanie, additional, Taylor Tavares, Ana Lisa, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tucci, Arianna, additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, Wood, Suzanne M., additional, and Zarowiecki, Magdalena, additional

Published
2023
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20. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Author

Di Donato, Nataliya, Timms, Andrew E, Aldinger, Kimberly A, Mirzaa, Ghayda M, Bennett, James T, Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T, Rivière, Jean-Baptiste, Zaki, Maha S, University of Washington Center for Mendelian Genomics, Gleeson, Joseph G, Rump, Andreas, Conti, Valerio, Parrini, Elena, Ross, M Elizabeth, Ledbetter, David H, Guerrini, Renzo, and Dobyns, William B

Published
2018
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23. Contributors

Author

Aiba, Isamu, primary, Andrade, Pedro, additional, Angamo, Eskedar A., additional, Aronica, Eleonora, additional, Auvin, Stéphane, additional, Baines, Richard A., additional, Balosso, Silvia, additional, Barker-Haliski, Melissa, additional, Bartolomei, Fabrice, additional, Bastar, Jeffrey, additional, Battaglia, Giorgio, additional, Benke, Tim, additional, Berdichevsky, Yevgeny, additional, Bernard, Christophe, additional, Bertoglio, Daniele, additional, Bertram, Edward H., additional, Buchanan, Gordon, additional, Buckmaster, Paul S., additional, Calas, Guilhem, additional, Carlen, Peter L., additional, Carmant, Lionel, additional, Cepeda, Carlos, additional, Cho, Frances S., additional, Clemente, Alexandra, additional, Cloyd, James C., additional, Colciaghi, Francesca, additional, Coles, Lisa D., additional, Conti, Valerio, additional, Copmans, Daniëlle, additional, Coulter, Douglas A., additional, Dal Bo, Gregory, additional, Dang, Louis T., additional, de Curtis, Marco, additional, de Witte, Peter A.M., additional, Dedeurwaerdere, Stefanie, additional, Deleye, Steven, additional, Dengler, Nora, additional, Depaulis, Antoine, additional, Deransart, Colin, additional, Dorandeu, Frederic, additional, Dudek, F. Edward, additional, Dulla, Chris G., additional, Dzhala, Volodya, additional, Ekstrand, Jeffrey, additional, Estrada-Sánchez, Ana M., additional, Eubanks, James H., additional, Faingold, Carl, additional, Fares, Raafat, additional, Ferland, R.J., additional, Ferraro, T.N., additional, Finardi, Adele, additional, Friedman, Alon, additional, Gabriel, Siegrun, additional, Galanopoulou, Aristea S., additional, Giachello, Carlo N.G., additional, Glykys, Joseph, additional, Gnatkovsky, Vadym, additional, Goldman, Alica M., additional, Goodman, Jeffrey, additional, Gorter, Jan A., additional, Gröhn, Olli, additional, Guerrini, Renzo, additional, Guillemain, Isabelle, additional, Halasz, Peter, additional, Heinemann, Uwe, additional, Henshall, David C., additional, Holden, Stephanie, additional, Holmes, Gregory L., additional, Hovens, Chris, additional, Ivanov, Anton I., additional, Jansen, Laura A., additional, Jarre, Guillaume, additional, Jarvis, Paul R., additional, Jefferys, John G.R., additional, Jensen, Frances E., additional, Jeong, Anna, additional, Jin, Xiaoming, additional, Jin, Yishi, additional, Köhling, Rüdiger, additional, Kadam, Shilpa D., additional, Kaufer, Daniela, additional, Kelly, Kevin M., additional, Kelly, Mary E., additional, Klang, Andrea, additional, Klitgaard, Henrik, additional, Kneissl, Sibylle, additional, Kostopoulos, George K., additional, Kotloski, Robert J., additional, Kuker, Marie, additional, Kyyriäinen, Jenni, additional, Löscher, Wolfgang, additional, Lau, Lauren A., additional, Lehmann, Thomas-Nicolas, additional, Leppik, Ilo E., additional, Levine, Michael S., additional, Librizzi, Laura, additional, Lillis, Kyle, additional, Lin, Dean D., additional, Lin, Wei-Hsiang, additional, Mühlebner, Angelika, additional, Marchi, Nicola, additional, Mazarati, Andrey M., additional, Milikovsky, Dan Z., additional, Modolo, Julien, additional, Moshé, Solomon L., additional, N’Gouemo, Prosper, additional, Ndode-Ekane, Xavier Ekolle, additional, Nehlig, Astrid, additional, Newton, Jamila, additional, Nobili, Paola, additional, Noebels, Jeffrey L., additional, O’Brien, Terence J., additional, O’Leary, Heather, additional, Pakozdy, Akos, additional, Parent, Jack M., additional, Pasanen, Lotta, additional, Patel, Dipan C., additional, Patterson, Edward N., additional, Paz, Jeanne T., additional, Petrou, Steve, additional, Ping, Xingjie, additional, Pitkänen, Asla, additional, Potschka, Heidrun, additional, Raikov, Ivan, additional, Ravizza, Teresa, additional, Reddy, Doodipala S., additional, Richards, Kay L., additional, Roper, Steven N., additional, Salar, Seda, additional, Salinas, Felipe S., additional, Sanon, Nathalie T., additional, Shakarjian, Michael P., additional, Shaker, Tarek, additional, Shultz, Sandy, additional, Siekierska, Aleksandra, additional, Soltesz, Ivan, additional, Spampanato, Jay G., additional, Staley, Kevin J., additional, Stewart, Mark, additional, Sun, Hongyu, additional, Sutula, Thomas P., additional, Szabó, Charles Á., additional, Takayanagi-Kiya, Seika, additional, Tanila, Heikki, additional, Tannenbaum, Jerrold, additional, Tupal, Srinivasan, additional, Uva, Laura, additional, van Vliet, Erwin A., additional, Velíšek, Libor, additional, Velíšková, Jana, additional, Walker, Matthew C., additional, Wendling, Fabrice, additional, White, H. Steve, additional, Wilcox, Karen S., additional, Wong, Michael, additional, Wykes, Robert C., additional, Zayachkivsky, Andrew, additional, Zhang, Liang, additional, and Zheng, Ping, additional

Published
2017
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25. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Author

Alcantara, Diana, Timms, Andrew E., Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G., Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I., Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A., Wenger, Aaron M., Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham, John M., Hevner, Robert, Dobyns, William B., O’Driscoll, Mark, and Mirzaa, Ghayda M.

Published
2017
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26. Correction: The landscape of epilepsy-related GATOR1 variants

Author

Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik H., Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, NordliJr, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., and Baulac, Stéphanie

Published
2019
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27. Correction to: The landscape of epilepsy-related GATOR1 variants

Author

Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, Martin, Anne de Saint, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor, Braun, Kees, Jong, Daniëlle de, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, NordliJr, Douglas R., Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, Bellescize, Julitta de, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., and Baulac, Stéphanie

Published
2019
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28. Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies

Author

Costa, Anna-Maria, primary, Lo Barco, Tommaso, additional, Spezia, Elisabetta, additional, Conti, Valerio, additional, Roli, Laura, additional, Marini, Lorenza, additional, Minghetti, Sara, additional, Caramaschi, Elisa, additional, Pietrangelo, Laura, additional, Pecoraro, Luca, additional, D’Achille, Fabio, additional, Accorsi, Paola, additional, Trenti, Tommaso, additional, Melani, Federico, additional, Marini, Carla, additional, Guerrini, Renzo, additional, Darra, Francesca, additional, Bergonzini, Patrizia, additional, and Biagini, Giuseppe, additional

Published
2022
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30. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

Author

Pirozzi, Filomena, primary, Berkseth, Matthew, additional, Shear, Rylee, additional, Gonzalez, Lorenzo, additional, Timms, Andrew E, additional, Sulc, Josef, additional, Pao, Emily, additional, Oyama, Nora, additional, Forzano, Francesca, additional, Conti, Valerio, additional, Guerrini, Renzo, additional, Doherty, Emily S, additional, Saitta, Sulagna C, additional, Lockwood, Christina M, additional, Pritchard, Colin C, additional, Dobyns, William B, additional, Novotny, Edward, additional, Wright, Jason N N, additional, Saneto, Russell P, additional, Friedman, Seth, additional, Hauptman, Jason, additional, Ojemann, Jeffrey, additional, Kapur, Raj P, additional, and Mirzaa, Ghayda M, additional

Published
2022
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32. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Author

Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Pepe, Sara, Koenig, Mary Kay, Von Allmen, Gretchen, Cho, Megan T, Mcdonald, Kimberly, Baker, Janice, Bhambhani, Vikas, Powis, Zöe, Rodan, Lance, Nabbout, Rima, Barcia, Giulia, Rosenfeld, Jill A, Bacino, Carlos A, Mignot, Cyril, Power, Lillian H, Harris, Catharine J, Marjanovic, Dragan, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andreas, Petit, Florence, de Sainte Agathe, Jean-Madeleine, Hallinan, Barbara, Yue, Si, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, and Fassio, Anna

Subjects
Brain Diseases, Vacuolar Proton-Translocating ATPases, Epilepsy, lysosomal disorder, Infant, progressive brain atrophy, Settore MED/04, Settore MED/26, Infantile, Spasms, developmental delay, Adenosine Triphosphate, Phenotype, epileptic encephalopathy, Intellectual Disability, Homeostasis, Humans, Neurology (clinical), Atrophy, ATP6V1A, Child, Lysosomes, Spasms, Infantile
Abstract

Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in a variety of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in pH homeostasis and intracellular signalling pathways. In humans, 22 autosomal genes encode for a redundant set of subunits allowing the composition of diverse V-ATPase complexes with specific properties and expression. Sixteen subunits have been linked to human disease. Here we describe 26 patients harbouring 20 distinct pathogenic de novo missense ATP6V1A variants, mainly clustering within the ATP synthase α/β family-nucleotide-binding domain. At a mean age of 7 years (extremes: 6 weeks, youngest deceased patient to 22 years, oldest patient) clinical pictures included early lethal encephalopathies with rapidly progressive massive brain atrophy, severe developmental epileptic encephalopathies and static intellectual disability with epilepsy. The first clinical manifestation was early hypotonia, in 70%; 81% developed epilepsy, manifested as developmental epileptic encephalopathies in 58% of the cohort and with infantile spasms in 62%; 63% of developmental epileptic encephalopathies failed to achieve any developmental, communicative or motor skills. Less severe outcomes were observed in 23% of patients who, at a mean age of 10 years and 6 months, exhibited moderate intellectual disability, with independent walking and variable epilepsy. None of the patients developed communicative language. Microcephaly (38%) and amelogenesis imperfecta/enamel dysplasia (42%) were additional clinical features. Brain MRI demonstrated hypomyelination and generalized atrophy in 68%. Atrophy was progressive in all eight individuals undergoing repeated MRIs. Fibroblasts of two patients with developmental epileptic encephalopathies showed decreased LAMP1 expression, Lysotracker staining and increased organelle pH, consistent with lysosomal impairment and loss of V-ATPase function. Fibroblasts of two patients with milder disease, exhibited a different phenotype with increased Lysotracker staining, decreased organelle pH and no significant modification in LAMP1 expression. Quantification of substrates for lysosomal enzymes in cellular extracts from four patients revealed discrete accumulation. Transmission electron microscopy of fibroblasts of four patients with variable severity and of induced pluripotent stem cell-derived neurons from two patients with developmental epileptic encephalopathies showed electron-dense inclusions, lipid droplets, osmiophilic material and lamellated membrane structures resembling phospholipids. Quantitative assessment in induced pluripotent stem cell-derived neurons identified significantly smaller lysosomes. ATP6V1A-related encephalopathy represents a new paradigm among lysosomal disorders. It results from a dysfunctional endo-lysosomal membrane protein causing altered pH homeostasis. Its pathophysiology implies intracellular accumulation of substrates whose composition remains unclear, and a combination of developmental brain abnormalities and neurodegenerative changes established during prenatal and early postanal development, whose severity is variably determined by specific pathogenic variants.

Published
2022

34. Corrigendum to ‘Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase [Seizure: European Journal of Epilepsy 86 (2021) 152-154] (Seizure: European Journal of Epilepsy (2021) 86(152-154) (S1059131121000480), (10.1016/j.seizure.2021.02.014))

Author

Buccoliero, Anna Maria, Caporalini, Chiara, Scagnet, Mirko, Mussa, Federico, Giordano, Flavio, Sardi, Iacopo, Migliastro, Irene, Moscardi, Selene, Conti, Valerio, Barba, Carmen, Antonelli, Manila, Gianno, Francesca, Rossi, Sabrina, Diomedi-Camassei, Francesca, Gessi, Marco, Donofrio, Vittoria, Bertero, Luca, Giangaspero, Felice, Santi, Mariarita, Aronica, Eleonora, Genitori, Lorenzo, Guerrini, Renzo, Pathology, APH - Aging & Later Life, APH - Mental Health, and Amsterdam Neuroscience - Cellular & Molecular Mechanisms

Abstract

The authors would like to inform you that Professor Gianspero's second affiliation, IRCCS Neuromed, Pozzilli (Is), Italy, was omitted from the article in error. The authors would like to apologise for this omission.

Published
2021

35. DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHIES: FROMGENETIC HETEROGENEITY TO PHENOTYPIC CONTINUUM.

Author

Guerrini, Renzo, Conti, Valerio, Mantegazza, Massimo, Balestrini, Simona, Galanopoulou, Aristea S., and Benfenati, Fabio

Subjects
*EPILEPSY, *PEOPLE with epilepsy, *PHENOTYPES, *CELL migration, *THERAPEUTICS, *HETEROGENEITY
Abstract

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of disorders characterized by early-onset, often severe epileptic seizures and EEG abnormalities on a background of developmental impairment that tends to worsen as a consequence of epilepsy. DEEs may result from both nongenetic and genetic etiologies. Genetic DEEs have been associated with mutations in many genes involved in different functions including cell migration, proliferation, and organization, neuronal excitability, and synapse transmission and plasticity. Functional studies performed in different animal models and clinical trials on patients have contributed to elucidate pathophysiological mechanisms underlying many DEEs and have explored the efficacy of different treatments. Here, we provide an extensive review of the phenotypic spectrum included in the DEEs and of the genetic determinants and pathophysiological mechanisms underlying these conditions. We also provide a brief overview of the most effective treatment now available and of the emerging therapeutic approaches. [ABSTRACT FROM AUTHOR]

Published
2023
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36. Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase

Author

Buccoliero, Anna Maria, Caporalini, Chiara, Scagnet, Mirko, Mussa, Federico, Giordano, Flavio, Sardi, Iacopo, Migliastro, Irene, Moscardi, Selene, Conti, Valerio, Barba, Carmen, Antonelli, Manila, Gianno, Francesca, Rossi, Sabrina, Diomedi-Camassei, Francesca, Gessi, Marco, Donofrio, Vittoria, Bertero, Luca, Giangaspero, Felice, Santi, Mariarita, Aronica, Eleonora, Genitori, Lorenzo, and Guerrini, Renzo

Published
2021
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37. Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights

Author

Pirozzi, Filomena, primary, Berkseth, Matthew, additional, Shear, Rylee, additional, Gonzalez, Lorenzo, additional, Timms, Andrew E., additional, Sulc, Josef, additional, Pao, Emily, additional, Oyama, Nora, additional, Forzano, Francesca, additional, Conti, Valerio, additional, Guerrini, Renzo, additional, Doherty, Emily S., additional, Saitta, Sulagna C., additional, Dobyns, William B., additional, Novotny, Edward, additional, Wright, Jason N.N., additional, Saneto, Russell P., additional, Friedman, Seth, additional, Hauptman, Jason, additional, Ojemann, Jeffrey, additional, Kapur, Raj P., additional, and Mirzaa, Ghayda M., additional

Published
2021
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38. Additional file 2 of Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial

Author

Galardi, Francesca, Luca, Francesca De, Biagioni, Chiara, Migliaccio, Ilenia, Curigliano, Giuseppe, Minisini, Alessandro M., Bonechi, Martina, Moretti, Erica, Risi, Emanuela, McCartney, Amelia, Benelli, Matteo, Romagnoli, Dario, Cappadona, Silvia, Gabellini, Stefano, Guarducci, Cristina, Conti, Valerio, Biganzoli, Laura, Leo, Angelo Di, and Malorni, Luca

Abstract

Additional file 2: Figure S2. T47D set up of ddPCR assay. A, B-2D plot of T47D PDS and PDR, C, D- concentration plot of T47D PDS and PDR; PDS: sensitive to palbociclib, PDR resistant to palbociclib.

Published
2021
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39. Additional file 5 of Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial

Author

Galardi, Francesca, Luca, Francesca De, Biagioni, Chiara, Migliaccio, Ilenia, Curigliano, Giuseppe, Minisini, Alessandro M., Bonechi, Martina, Moretti, Erica, Risi, Emanuela, McCartney, Amelia, Benelli, Matteo, Romagnoli, Dario, Cappadona, Silvia, Gabellini, Stefano, Guarducci, Cristina, Conti, Valerio, Biganzoli, Laura, Leo, Angelo Di, and Malorni, Luca

Abstract

Additional file 5: Figure S5. RB1 and GAPDH gene expression analysis. A) distribution of GAPDH and RB1 copies number in single CTCs, B) distribution of mean number of copies of GAPDH and RB1 (tot n copies/n cells).

Published
2021
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40. Additional file 6 of Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial

Author

Galardi, Francesca, Luca, Francesca De, Biagioni, Chiara, Migliaccio, Ilenia, Curigliano, Giuseppe, Minisini, Alessandro M., Bonechi, Martina, Moretti, Erica, Risi, Emanuela, McCartney, Amelia, Benelli, Matteo, Romagnoli, Dario, Cappadona, Silvia, Gabellini, Stefano, Guarducci, Cristina, Conti, Valerio, Biganzoli, Laura, Leo, Angelo Di, and Malorni, Luca

Abstract

Additional file 6: Figure S6. Mean number of copies of GAPDH and RB1 broken into timepoint.

Published
2021
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41. Additional file 3 of Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial

Author

Galardi, Francesca, Luca, Francesca De, Biagioni, Chiara, Migliaccio, Ilenia, Curigliano, Giuseppe, Minisini, Alessandro M., Bonechi, Martina, Moretti, Erica, Risi, Emanuela, McCartney, Amelia, Benelli, Matteo, Romagnoli, Dario, Cappadona, Silvia, Gabellini, Stefano, Guarducci, Cristina, Conti, Valerio, Biganzoli, Laura, Leo, Angelo Di, and Malorni, Luca

Subjects
food and beverages, eye diseases
Abstract

Additional file 3: Figure S3. Cell lines set up of ddPCR assay. A) RB1 expression on PDS and PDR cell lines confirm the reduction of RB1 expression among PDS and PDS cell lines, *** p

Published
2021
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42. Additional file 1 of Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial

Author

Galardi, Francesca, Luca, Francesca De, Biagioni, Chiara, Migliaccio, Ilenia, Curigliano, Giuseppe, Minisini, Alessandro M., Bonechi, Martina, Moretti, Erica, Risi, Emanuela, McCartney, Amelia, Benelli, Matteo, Romagnoli, Dario, Cappadona, Silvia, Gabellini, Stefano, Guarducci, Cristina, Conti, Valerio, Biganzoli, Laura, Leo, Angelo Di, and Malorni, Luca

Abstract

Additional file 1: Figure S1. CTCs dynamics. Spider plot of CTC dynamics for each timepoint colored according to CB.

Published
2021
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43. Additional file 4 of Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial

Author

Galardi, Francesca, Luca, Francesca De, Biagioni, Chiara, Migliaccio, Ilenia, Curigliano, Giuseppe, Minisini, Alessandro M., Bonechi, Martina, Moretti, Erica, Risi, Emanuela, McCartney, Amelia, Benelli, Matteo, Romagnoli, Dario, Cappadona, Silvia, Gabellini, Stefano, Guarducci, Cristina, Conti, Valerio, Biganzoli, Laura, Leo, Angelo Di, and Malorni, Luca

Abstract

Additional file 4: Figure S4. Images of a patient sample CTCs. Images of CTCs identified by A) Cell Search system, B) DEP array. C) 2-D plot RB1- droplets positive for Rb1 expression, GAPDH- droplets positive for GAPDH; RB1+ GAPDH- droplets positive for both RB1 and GAPDH.

Published
2021
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44. Large-scale, cell-resolution volumetric mapping allows layer-specific investigation of human brain cytoarchitecture

Author

Costantini, Irene, primary, Mazzamuto, Giacomo, additional, Roffilli, Matteo, additional, Laurino, Annunziatina, additional, Maria Castelli, Filippo, additional, Neri, Mattia, additional, Lughi, Giovanni, additional, Simonetto, Andrea, additional, Lazzeri, Erica, additional, Pesce, Luca, additional, Destrieux, Christophe, additional, Silvestri, Ludovico, additional, Conti, Valerio, additional, Guerrini, Renzo, additional, and Saverio Pavone, Francesco, additional

Published
2021
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46. International consensus recommendations on the diagnostic work-up for malformations of cortical development

Author

Genetica, Genetica Klinische Genetica, Brain, Child Health, Pathologie, Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E, Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M, Zaki, Maha S, Mirzaa, Ghayda, Dobyns, William B, Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T, Hehr, Ute, Leventer, Richard J, Jansen, Anna C, Mancini, Grazia M S, Di Donato, Nataliya, Genetica, Genetica Klinische Genetica, Brain, Child Health, Pathologie, Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E, Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M, Zaki, Maha S, Mirzaa, Ghayda, Dobyns, William B, Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T, Hehr, Ute, Leventer, Richard J, Jansen, Anna C, Mancini, Grazia M S, and Di Donato, Nataliya

Published
2020

48. Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy

Author

Vasudevaraja, Varshini, primary, Rodriguez, Javier Hernaez, additional, Pelorosso, Cristiana, additional, Zhu, Kaicen, additional, Buccoliero, Anna Maria, additional, Onozato, Maristela, additional, Mohamed, Hussein, additional, Serrano, Jonathan, additional, Tredwin, Lily, additional, Garonzi, Marianna, additional, Forcato, Claudio, additional, Zeck, Briana, additional, Ramaswami, Sitharam, additional, Stafford, James, additional, Faustin, Arline, additional, Friedman, Daniel, additional, Hidalgo, Eveline Teresa, additional, Zagzag, David, additional, Skok, Jane, additional, Heguy, Adriana, additional, Chiriboga, Luis, additional, Conti, Valerio, additional, Guerrini, Renzo, additional, Iafrate, A John, additional, Devinsky, Orrin, additional, Tsirigos, Aristotelis, additional, Golfinos, John G, additional, and Snuderl, Matija, additional

Published
2020
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49. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Author

Conti, Valerio, Carabalona, Aurelie, Pallesi-Pocachard, Emilie, Parrini, Elena, Leventer, Richard J., Buhler, Emmanuelle, McGillivray, George, Michel, François J., Striano, Pasquale, Mei, Davide, Watrin, Françoise, Lise, Stefano, Pagnamenta, Alistair T., Taylor, Jenny C., Kini, Usha, Clayton-Smith, Jill, Novara, Francesca, Zuffardi, Orsetta, Dobyns, William B., Scheffer, Ingrid E., Robertson, Stephen P., Berkovic, Samuel F., Represa, Alfonso, Keays, David A., Cardoso, Carlos, and Guerrini, Renzo

Published
2013
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