Search Results - "Spaccini, Luigina"

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation by Tonduti, Davide, Mura, Eleonora, Masnada, Silvia, Bertini, Enrico, Aiello, Chiara, Zini, Daniela, Parmeggiani, Lucio, Cantalupo, Gaetano, Talenti, Giacomo, Veggiotti, Pierangelo, Spaccini, Luigina, Iascone, Maria, Parazzini, Cecilia

“…Monoallelic mutations on TMEM63A have been recently reported as cause of a previously unrecognized disorder named "infantile-onset transient hypomyelination"…”
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Refining the Phenotype of Recurrent Rearrangements of Chromosome 16 by Redaelli, Serena, Maitz, Silvia, Crosti, Francesca, Sala, Elena, Villa, Nicoletta, Spaccini, Luigina, Selicorni, Angelo, Rigoldi, Miriam, Conconi, Donatella, Dalprà, Leda, Roversi, Gaia, Bentivegna, Angela

“…Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and…”
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Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes by Cogliati, Francesca, Giorgini, Valentina, Masciadri, Maura, Bonati, Maria Teresa, Marchi, Margherita, Cracco, Irene, Gentilini, Davide, Peron, Angela, Savini, Miriam Nella, Spaccini, Luigina, Scelsa, Barbara, Maitz, Silvia, Veneselli, Edvige, Prato, Giulia, Pintaudi, Maria, Moroni, Isabella, Vignoli, Aglaia, Larizza, Lidia, Russo, Silvia

“…Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies,…”
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Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study by Cavirani, Benedetta, Spagnoli, Carlotta, Caraffi, Stefano Giuseppe, Cavalli, Anna, Cesaroni, Carlo Alberto, Cutillo, Gianni, De Giorgis, Valentina, Frattini, Daniele, Marchetti, Giulia Bruna, Masnada, Silvia, Peron, Angela, Rizzi, Susanna, Varesio, Costanza, Spaccini, Luigina, Vignoli, Aglaia, Canevini, Maria Paola, Veggiotti, Pierangelo, Garavelli, Livia, Fusco, Carlo

“…The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. Their…”
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Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants by Previtali, Roberto, Leidi, Alessia, Basso, Martina, Izzo, Giana, Stignani, Cecilia, Spaccini, Luigina, Iascone, Maria, Veggiotti, Pierangelo, Bova, Stefania Maria

“…is expressed in cardiovascular and neurological tissues. In the brain, it has a role in pre- and post-natal maturation. Previously reported -mutated patients…”
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Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance by Zara, Federico, Specchio, Nicola, Striano, Pasquale, Robbiano, Angela, Gennaro, Elena, Paravidino, Roberta, Vanni, Nicola, Beccaria, Francesca, Capovilla, Giuseppe, Bianchi, Amedeo, Caffi, Lorella, Cardilli, Viviana, Darra, Francesca, Bernardina, Bernardo Dalla, Fusco, Lucia, Gaggero, Roberto, Giordano, Lucio, Guerrini, Renzo, Incorpora, Gemma, Mastrangelo, Massimo, Spaccini, Luigina, Laverda, Anna Maria, Vecchi, Marilena, Vanadia, Francesca, Veggiotti, Pierangelo, Viri, Maurizio, Occhi, Guya, Budetta, Mauro, Taglialatela, Maurizio, Coviello, Domenico A., Vigevano, Federico, Minetti, Carlo

“…Summary Purpose To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap between benign…”
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Menkes disease complicated by concurrent ACY1 deficiency: A case report by Mauri, Alessia, Saielli, Laura Assunta, Alfei, Enrico, Iascone, Maria, Marchetti, Daniela, Cattaneo, Elisa, Di Lauro, Anna, Antonelli, Laura, Alberti, Luisella, Bonaventura, Eleonora, Veggiotti, Pierangelo, Spaccini, Luigina, Cereda, Cristina

“…Menkes disease is an X-linked recessive condition caused by mutations in the gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare…”
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Neonatal Diabetes in Patients Affected by Liang-Wang Syndrome Carrying KCNMA1 Variant p.(Gly375Arg) Suggest a Potential Role of Ca2+ and Voltage-Activated K+ Channel Activity in Human Insulin Secretion by Mameli, Chiara, Cazzola, Roberta, Spaccini, Luigina, Calcaterra, Valeria, Macedoni, Maddalena, La Verde, Paola Azzurra, D’Auria, Enza, Verduci, Elvira, Lista, Gianluca, Zuccotti, Gian Vincenzo

“…Liang-Wang syndrome (LIWAS) is a polymalformative syndrome first described in 2019 caused by heterozygous mutation of the KCNMA1 gene encoding the Ca2+ and…”
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Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child by Faraguna, Martha Caterina, Musto, Francesca, Crescitelli, Viola, Iascone, Maria, Spaccini, Luigina, Tonduti, Davide, Fedeli, Tiziana, Kullmann, Gaia, Canonico, Francesco, Cattoni, Alessandro, Dell'Acqua, Fabiola, Rizzari, Carmelo, Gasperini, Serena

“…Mucopolysaccharidosis-plus syndrome (MPS-PS) is a novel autosomal recessive disorder caused by a mutation in the gene. This syndrome presents with typical…”
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Amnioreduction for Polyhydramnios in a Consecutive Series at a Single Center: Indications, Risks and Perinatal Outcomes by Laoreti, Arianna, Sala, Valentina, Casati, Daniela, Faiola, Stefano, Spaccini, Luigina, Cetin, Irene, Lanna, Mariano M

“…Pregnancies complicated by severe polyhydramnios are associated with a high rate of underlying fetal anomaly. Amnioreduction may be offered to alleviate…”
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Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome by Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Tumiatti, Francesca, Masciadri, Maura, Smeland, Marie Falkenberg, Naik, Swati, Murch, Oliver, Bonati, Maria Teresa, Spano, Alice, Cattaneo, Elisa, Mariani, Milena, Gotta, Fabio, Crosti, Francesca, Cavalli, Pietro, Pantaleoni, Chiara, Natacci, Federica, Bedeschi, Maria Francesca, Milani, Donatella, Maitz, Silvia, Selicorni, Angelo, Spaccini, Luigina, Peron, Angela, Russo, Silvia, Larizza, Lidia, Low, Karen, Finelli, Palma

“…KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 ( ) haploinsufficiency. Here, we report the molecular…”
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Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations by Colombo, Elisa Adele, Spaccini, Luigina, Volpi, Ludovica, Negri, Gloria, Cittaro, Davide, Lazarevic, Dejan, Zirpoli, Salvatore, Farolfi, Andrea, Gervasini, Cristina, Cubellis, Maria Vittoria, Larizza, Lidia

“…Integrin α3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome). To date only…”
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Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene by Calcaterra, Valeria, Lamberti, Rossella, Viggiano, Claudia, Gatto, Sara, Spaccini, Luigina, Lista, Gianluca, Zuccotti, Gianvincenzo

“…Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter…”
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Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity by Olivotto, Sara, Freddi, Anna, Lavatelli, Rossella, Basso, Eleonora, Leidi, Alessia, Castellotti, Barbara, Spaccini, Luigina, Bova, Stefania Maria, Veggiotti, Pierangelo

“…•Generalized epilepsies with variants in GABRA1 may be a treatment challenge when myoclonus remains drug-resistant.•Photosensitivity may be particularly…”
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Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly by Calcaterra, Valeria, Lamberti, Rossella, Viggiano, Claudia, Baldassarre, Paola, Spaccini, Luigina, Alfano, Rosa Maria, Izzo, Giana, Valentini, Laura Grazia, Zuccotti, Gianvincenzo

“…Introduction. Pituitary differentiation involves a large number of transcription factors. In particular, BMP4 expression is fundamental for pituitary gland…”
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Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review by Nespoli, Luisa Federica, Albani, Elena, Corti, Carla, Spaccini, Luigina, Alfei, Enrico, Daniele, Irene, Zuccotti, Gian Vincenzo, Lista, Gianluca, Calcaterra, Valeria, Mannarino, Savina

“…: Cardiac rhabdomyomas (CRs) are the most common cardiac tumors in newborns. Approximately 80-90% of cases are associated with tuberous sclerosis complex…”
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Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia by Cesaretti, Claudia, Spaccini, Luigina, Rustico, Mariangela, Parazzini, Cecilia, Doneda, Chiara, Re, Thomas J., Righini, Andrea

“…ABSTRACT Hypochondroplasia (HCH) is a genetic skeletal dysplasia, inherited in an autosomal dominant fashion. About 50–70% of HCH patients have a mutation in…”
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P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity by Peron, Angela, Alfano, Rosa Maria, Moore, Barry, Nellist, Mark, Pedersen, Brent, La Briola, Francesca, Spaccini, Luigina, Natacci, Federica, Recalcati, Maria Paola, Chiesa, Valentina, Arancio, Rosangela, Cavallari, Ugo, Vannicola, Chiara, Cefalo, Graziella, Maitz, Silvia, Bigoni, Stefania, Gualandri, Lorenzo, Gervasini, Cristina, Veggiotti, Pierangelo, van Ijcken, Wilfred, Vignoli, Aglaia, Bulfamante, Gaetano Pietro, Carey, John, Canevini, Maria Paola

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L1CAM variants cause two distinct imaging phenotypes on fetal MRI by Accogli, Andrea, Goergen, Stacy, Izzo, Giana, Mankad, Kshitij, Krajden Haratz, Karina, Parazzini, Cecilia, Fahey, Michael, Menzies, Lara, Baptista, Julia, Carpineta, Lucia, Tortora, Domenico, Fulcheri, Ezio, Gaetano Vellone, Valerio, Paladini, Dario, Spaccini, Luigina, Toto, Valentina, Trayers, Claire, Ben Sira, Liat, Reches, Adi, Malinger, Gustavo, Salpietro, Vincenzo, De Marco, Patrizia, Srour, Myriam, Zara, Federico, Capra, Valeria, Rossi, Andrea, Severino, Mariasavina

“…Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging…”
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Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report by Cococcioni, Lucia, Paccagnini, Susanna, Pozzi, Elena, Spaccini, Luigina, Cattaneo, Elisa, Redaelli, Serena, Crosti, Francesca, Zuccotti, Gian Vincenzo

“…Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis. We report the case of a child that…”
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