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Akademický článek

Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants

Autor: Roberto Previtali, Alessia Leidi, Martina Basso, Giana Izzo, Cecilia Stignani, Luigina Spaccini, Maria Iascone, Pierangelo Veggiotti, Stefania Maria Bova

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

PACHTR1 is expressed in cardiovascular and neurological tissues. In the brain, it has a role in pre- and post-natal maturation. Previously reported PHACTR1-mutated patients showed early-onset epilepsy and intellectual disability. We describe two unre

Externí odkaz: https://doaj.org/article/f65a9632b6de4621a9abe519a6db4bf0

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Akademický článek

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

Autor: Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala

Publikováno v: Frontiers in Neurology, Vol 13 (2023)

IntroductionX-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the ABCD1 gene. The main phenotypes observed in men with X-ALD are primary adrenal insufficiency, adrenomyeloneuropathy, and cer

Externí odkaz: https://doaj.org/article/8ddb7b61f9a94a7d98d8b68e6ba8ddab

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Akademický článek

L1CAM variants cause two distinct imaging phenotypes on fetal MRI

Publikováno v: Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2004-2012 (2021)

Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was c

Externí odkaz: https://doaj.org/article/d39d340140d54e11af25c53ccc7c57e0

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Akademický článek

Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies

Autor: Martina Basso, Matteo Gastaldi, Valeria Leonardi, Giana Izzo, Sara Olivotto, Stefania Ferrario, Pierangelo Veggiotti, Diego Franciotta, Stefania M. Bova

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

Acute encephalitis and febrile infection-related epilepsy syndrome (FIRES) are debilitating neurological disorders. It is increasingly accepted that FIRES should be considered an autoinflammation-mediated epileptic encephalopathy, but the debate abou

Externí odkaz: https://doaj.org/article/75ac85cfee1d422d9dc8a6ccc144102d

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Akademický článek

Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly

Autor: Valeria Calcaterra, Rossella Lamberti, Claudia Viggiano, Paola Baldassarre, Luigina Spaccini, Rosa Maria Alfano, Giana Izzo, Laura Grazia Valentini, Gianvincenzo Zuccotti

Publikováno v: Case Reports in Pediatrics, Vol 2022 (2022)

Introduction. Pituitary differentiation involves a large number of transcription factors. In particular, BMP4 expression is fundamental for pituitary gland commitment from the ventral diencephalon, suppressing Shh expression in Rathke’s pouch. Path

Externí odkaz: https://doaj.org/article/9c8d6aeba6844352bdd74ac7d03a7cd7

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Akademický článek

Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome

Autor: Jessica Garau, Silvia Masnada, Francesca Dragoni, Daisy Sproviero, Federico Fogolari, Stella Gagliardi, Giana Izzo, Costanza Varesio, Simona Orcesi, Pierangelo Veggiotti, Gian Vincenzo Zuccotti, Orietta Pansarasa, Davide Tonduti, Cristina Cereda

Publikováno v: Frontiers in Immunology, Vol 12 (2021)

Aicardi–Goutières Syndrome (AGS) is a rare disorder characterized by neurological and immunological signs. In this study we have described a child with a phenotype consistent with AGS carrying a novel compound heterozygous mutation in RNASEH2B gen

Externí odkaz: https://doaj.org/article/bfb8e9e1e61240c6ac4979c64f0ecdd5

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Severe Fetal Symptomatic Infection from Human Cytomegalovirus following Nonprimary Maternal Infection: Report of Two Cases

Autor: Mariano Matteo Lanna, Elisa Fabbri, Maurizio Zavattoni, Chiara Doneda, Valentina Toto, Giana Izzo, Daniela Casati, Stefano Faiola, Irene Cetin

Publikováno v: Fetal Diagnosis and Therapy. 49:36-40

Introduction: Human cytomegalovirus (HCMV) is the most common congenital infection, especially severe after a maternal primary infection; sequelae in neonates born to mothers experiencing a nonprimary infection have been already reported. Hereby, two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::013072256c8ea6e4530bb01d282ba60c
https://doi.org/10.1159/000521711

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School-Age Outcome of Fetuses with Isolated Complete Septum Pellucidum Agenesis at Prenatal Magnetic Resonance Imaging

Autor: Cecilia Parazzini, Chiara Doneda, Barbara Scelsa, Giana Izzo, Andrea Righini

Publikováno v: Neuropediatrics. 53:026-031

Objective To the best of our knowledge, there have not been studies to address the issue of long-term follow-up of patients with prenatal diagnosis of isolated complete septum pellucidum agenesis (SPA). The aim of this study was to acquire informatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce5aa4f1ff5406e64324d342552aa31d
https://doi.org/10.1055/s-0041-1733985

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