Search Results - "ARRIGONI, FILIPPO"

Definitions and classification of malformations of cortical development: practical guidelines by Severino, Mariasavina, Geraldo, Ana Filipa, Utz, Norbert, Tortora, Domenico, Pogledic, Ivana, Klonowski, Wlodzimierz, Triulzi, Fabio, Arrigoni, Filippo, Mankad, Kshitij, Leventer, Richard J, Mancini, Grazia M S, Barkovich, James A, Lequin, Maarten H, Rossi, Andrea

“…Malformations of cortical development are a group of rare disorders commonly manifesting with developmental delay, cerebral palsy or seizures. The neurological…”
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DBB - A Distorted Brain Benchmark for Automatic Tissue Segmentation in Paediatric Patients by Amorosino, Gabriele, Peruzzo, Denis, Redaelli, Daniela, Olivetti, Emanuele, Arrigoni, Filippo, Avesani, Paolo

“…•We build a benchmark for the automatic tissue segmentation of distorted brains.•The dataset includes healthy subjects and patients with brain distortions.•We…”
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Mutations in α- and β-tubulin encoding genes: Implications in brain malformations by Romaniello, Romina, Arrigoni, Filippo, Bassi, Maria Teresa, Borgatti, Renato

“…Abstract The tubulin gene family is mainly expressed in post-mitotic neurons during cortical development with a specific spatial and temporal expression…”
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Multi‐center evaluation of stability and reproducibility of quantitative MRI measures in healthy calf muscles by Schlaffke, Lara, Rehmann, Robert, Rohm, Marlena, Otto, Louise A.M., Luca, Alberto, Burakiewicz, Jedrzej, Baligand, Celine, Monte, Jithsa, Harder, Chiel, Hooijmans, Melissa T., Nederveen, Aart, Schlaeger, Sarah, Weidlich, Dominik, Karampinos, Dimitrios C., Stouge, Anders, Vaeggemose, Michael, D'Angelo, Maria Grazia, Arrigoni, Filippo, Kan, Hermien E., Froeling, Martijn

“…The purpose of this study was to evaluate temporal stability, multi‐center reproducibility and the influence of covariates on a multimodal MR protocol for…”
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Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study by Nuovo, Sara, Micalizzi, Alessia, Romaniello, Romina, Arrigoni, Filippo, Ginevrino, Monia, Casella, Antonella, Serpieri, Valentina, D'Arrigo, Stefano, Briguglio, Marilena, Salerno, Grazia Gabriella, Rossato, Sara, Sartori, Stefano, Leuzzi, Vincenzo, Battini, Roberta, Ben-Zeev, Bruria, Graziano, Claudio, Mirabelli Badenier, Marisol, Brankovic, Vesna, Nardocci, Nardo, Spiegel, Ronen, Petković Ramadža, Danijela, Vento, Giovanni, Marti, Itxaso, Simonati, Alessandro, Dipresa, Savina, Freri, Elena, Mazza, Tommaso, Bassi, Maria Teresa, Bosco, Luca, Travaglini, Lorena, Zanni, Ginevra, Bertini, Enrico Silvio, Vanacore, Nicola, Borgatti, Renato, Valente, Enza Maria

“…Pontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders characterised by concurrent hypoplasia of the pons and the cerebellum…”
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Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders by Romaniello, Romina, Pasca, Ludovica, Panzeri, Elena, D’Abrusco, Fulvio, Travaglini, Lorena, Serpieri, Valentina, Signorini, Sabrina, Aiello, Chiara, Bertini, Enrico, Bassi, Maria Teresa, Valente, Enza Maria, Zanni, Ginevra, Borgatti, Renato, Arrigoni, Filippo

“…The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is…”
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The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis by Arrigoni, Filippo, Romaniello, Romina, Peruzzo, Denis, Poretti, Andrea, Bassi, Maria Teresa, Pierpaoli, Carlo, Valente, Enza Maria, Nuovo, Sara, Boltshauser, Eugen, Huisman, Thierry André Gerard Marie, Triulzi, Fabio, Borgatti, Renato

“…Objectives To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging…”
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Alterations in neural activation in the ventral frontoparietal network during complex magnocellular stimuli in developmental dyslexia associated with READ1 deletion by Mascheretti, Sara, Arrigoni, Filippo, Toraldo, Alessio, Giubergia, Alice, Andreola, Chiara, Villa, Martina, Lampis, Valentina, Giorda, Roberto, Villa, Marco, Peruzzo, Denis

“…An intronic deletion within intron 2 of the DCDC2 gene encompassing the entire READ1 (hereafter, READ1d) has been associated in both children with…”
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Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis by Citterio, Andrea, Arnoldi, Alessia, Panzeri, Elena, D’Angelo, Maria Grazia, Filosto, Massimiliano, Dilena, Robertino, Arrigoni, Filippo, Castelli, Marianna, Maghini, Cristina, Germiniasi, Chiara, Menni, Francesca, Martinuzzi, Andrea, Bresolin, Nereo, Bassi, Maria Teresa

“…Complicated hereditary spastic paraplegias (HSP) are a heterogeneous group of HSP characterized by spasticity associated with a variable combination of…”
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Retrospective study of late radiation-induced damages after focal radiotherapy for childhood brain tumors by Cavatorta, Claudia, Meroni, Silvia, Montin, Eros, Oprandi, Maria C, Pecori, Emilia, Lecchi, Mara, Diletto, Barbara, Alessandro, Ombretta, Peruzzo, Denis, Biassoni, Veronica, Schiavello, Elisabetta, Bologna, Marco, Massimino, Maura, Poggi, Geraldina, Mainardi, Luca, Arrigoni, Filippo, Spreafico, Filippo, Verderio, Paolo, Pignoli, Emanuele, Gandola, Lorenza

“…To study a robust and reproducible procedure to investigate a relation between focal brain radiotherapy (RT) low doses, neurocognitive impairment and late…”
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Early cerebral lesions in cytomegalovirus infection: prenatal MR imaging by Doneda, Chiara, Parazzini, Cecilia, Righini, Andrea, Rustico, Mariangela, Tassis, Beatrice, Fabbri, Elisa, Arrigoni, Filippo, Consonni, Dario, Triulzi, Fabio

“…To assess the diagnostic and prognostic value of fetal cerebral magnetic resonance (MR) imaging of congenital cytomegalovirus (CMV) infection in comparison…”
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Investigation of negative BOLD responses in human brain through NIRS technique. A visual stimulation study by Maggioni, Eleonora, Molteni, Erika, Zucca, Claudio, Reni, Gianluigi, Cerutti, Sergio, Triulzi, Fabio M., Arrigoni, Filippo, Bianchi, Anna M.

“…Despite negative blood oxygenation level dependent (BOLD) responses to visual stimuli have recently gained considerable interest, the explanation for their…”
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Investigation of the electrophysiological correlates of negative BOLD response during intermittent photic stimulation: An EEG-fMRI study by Maggioni, Eleonora, Zucca, Claudio, Reni, Gianluigi, Cerutti, Sergio, Triulzi, Fabio M., Bianchi, Anna M., Arrigoni, Filippo

“…Although the occurrence of concomitant positive BOLD responses (PBRs) and negative BOLD responses (NBRs) to visual stimuli is increasingly investigated in…”
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Epilepsy in Tubulinopathy: Personal Series and Literature Review by Romaniello, Romina, Zucca, Claudio, Arrigoni, Filippo, Bonanni, Paolo, Panzeri, Elena, Bassi, Maria T, Borgatti, Renato

“…Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation…”
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A multi-metric registration strategy for the alignment of longitudinal brain images in pediatric oncology by Montin, Eros, Belfatto, Antonella, Bologna, Marco, Meroni, Silvia, Cavatorta, Claudia, Pecori, Emilia, Diletto, Barbara, Massimino, Maura, Oprandi, Maria Chiara, Poggi, Geraldina, Arrigoni, Filippo, Peruzzo, Denis, Pignoli, Emanuele, Gandola, Lorenza, Cerveri, Pietro, Mainardi, Luca

“…Survival of pediatric patients with brain tumor has increased over the past 20 years, and increasing evidence of iatrogenic toxicities has been reported. In…”
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The Paternal Brain in Action: A Review of Human Fathers’ fMRI Brain Responses to Child-Related Stimuli by Provenzi, Livio, Lindstedt, Johanna, De Coen, Kris, Gasparini, Linda, Peruzzo, Denis, Grumi, Serena, Arrigoni, Filippo, Ahlqvist-Björkroth, Sari

“…As fathers are increasingly involved in childcare, understanding the neurological underpinnings of fathering has become a key research issue in developmental…”
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Functional MRI Studies in Friedreich's Ataxia: A Systematic Review by Vavla, Marinela, Arrigoni, Filippo, Peruzzo, Denis, Montanaro, Domenico, Frijia, Francesca, Pizzighello, Silvia, De Luca, Alberto, Della Libera, Emma, Tessarotto, Federica, Guerra, Paola, Harding, Ian H, Martinuzzi, Andrea

“…Friedreich's ataxia (FRDA) is an inherited neurodegenerative movement disorder with early onset, widespread cerebral and cerebellar pathology, and no cure…”
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Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich’s Ataxia by Vavla, Marinela, Arrigoni, Filippo, Toschi, Nicola, Peruzzo, Denis, D’Angelo, Maria Grazia, Gandossini, Sandra, Russo, Annamaria, Diella, Eleonora, Tirelli, Stefania, Salati, Roberto, Rufini, Alessandra, Condo, Ivano, Testi, Roberto, Martinuzzi, Andrea

“…The identification of efficient markers of disease progression and response to possibly effective treatments is a key priority for slowly progressive, rare,…”
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Functional and Structural Brain Damage in Friedreich's Ataxia by Vavla, Marinela, Arrigoni, Filippo, Nordio, Andrea, De Luca, Alberto, Pizzighello, Silvia, Petacchi, Elisa, Paparella, Gabriella, D'Angelo, Maria Grazia, Brighina, Erika, Russo, Emanuela, Fantin, Marianna, Colombo, Paola, Martinuzzi, Andrea

“…Friedreich's ataxia (FRDA) is a rare hereditary neurodegenerative disorder caused by a GAA repeat expansion in the gene. There is still no cure or quantitative…”
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Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5 by Romaniello, Romina, Citterio, Andrea, Panzeri, Elena, Arrigoni, Filippo, De Rinaldis, Marta, Trabacca, Antonio, Bassi, Maria Teresa

“…In the present study, we describe two novel cases of SCA5 with early onset. The first one, carrying a novel heterozygous de novo missense mutation in SPTBN2…”
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