Resultats de la cerca - Salpietro, Vincenzo

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A per Efthymiou, Stephanie, Salpietro, Vincenzo, Bettencourt, Conceicao, Houlden, Henry

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A Review of Copy Number Variants in Inherited Neuropathies per Salpietro, Vincenzo, Manole, Andreea, Efthymiou, Stephanie, Houlden, Henry

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Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery per Cali, Elisa, Rocca, Clarissa, Salpietro, Vincenzo, Houlden, Henry

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Further supporting evidence for REEP1 phenotypic and allelic heterogeneity per Maroofian, Reza, Behnam, Mahdiyeh, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Salehi, Mansour, Houlden, Henry

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Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders per Baldassari, Simona, Musante, Ilaria, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scudieri, Paolo

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Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders per Bourinaris, Thomas, Athanasiou, Alkyoni, Efthymiou, Stephanie, Wiethoff, Sarah, Salpietro, Vincenzo, Houlden, Henry

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A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes per Nardello, Rosaria, Antona, Vincenzo, Mangano, Giuseppe Donato, Salpietro, Vincenzo, Mangano, Salvatore, Fontana, Antonina

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Sudden cardiac arrest in a child with nemaline myopathy per Marseglia, Lucia, D’Angelo, Gabriella, Manti, Sara, Salpietro, Vincenzo, Arrigo, Teresa, Cavallari, Vittorio, Gitto, Eloisa

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A de novo truncating mutation in ASXL1 associated with segmental overgrowth per Efthymiou, Stephanie, Salpietro, Vincenzo, Pironti, Erica, Bonsignore, Maria, Ferrazzoli, Valentina, Di Rosa, Gabriella, Houlden, Henry

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Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families per Ilyas, Muhammad, Efthymiou, Stephanie, Salpietro, Vincenzo, Noureen, Nuzhat, Zafar, Faisal, Rauf, Sobiah, Mir, Asif, Houlden, Henry

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Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review per Mangano, Giuseppe Donato, Fontana, Antonina, Antona, Vincenzo, Salpietro, Vincenzo, Mangano, Giuseppa Renata, Giuffrè, Mario, Nardello, Rosaria

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Pediatric stroke: current diagnostic and management challenges per Rajani, Nikil K., Pearce, Kirsten, Campion, Tom, Salpietro, Vincenzo, Planells, Mariana, Chong, Winston, Patankar, Tufail, Mankad, Kshitij

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Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype per Christodoulou, Loucas, Krishnaiah, Anil, Spyridou, Christina, Salpietro, Vincenzo, Hannan, Siobhan, Saggar, Anand, Mankad, Kshitij, Deep, Akash, Kinali, Maria

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Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction per Spoto, Giulia, Valentini, Giulia, Saia, Maria Concetta, Butera, Ambra, Amore, Greta, Salpietro, Vincenzo, Nicotera, Antonio Gennaro, Di Rosa, Gabriella

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Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications per Salpietro, Vincenzo, Polizzi, Agata, Di Rosa, Gabriella, Romeo, Anna Claudia, Dipasquale, Valeria, Morabito, Paolo, Chirico, Valeria, Arrigo, Teresa, Ruggieri, Martino

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PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly per Coleman, Jeff, Jouannot, Ouardane, Ramakrishnan, Sathish K., Zanetti, Maria N., Wang, Jing, Salpietro, Vincenzo, Houlden, Henry, Rothman, James E., Krishnakumar, Shyam S.

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Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature per Savasta, Salvatore, Bassanese, Francesco, Buschini, Chiara, Foiadelli, Thomas, Trabatti, Chiara, Efthymiou, Stephanie, Salpietro, Vincenzo, Houlden, Henry, Simoncelli, Annamaria, Marseglia, Gian Luigi

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Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder per Piccolo, Gianluca, Amadori, Elisabetta, Vari, Maria Stella, Marchese, Francesca, Riva, Antonella, Ghirotto, Valentina, Iacomino, Michele, Salpietro, Vincenzo, Zara, Federico, Striano, Pasquale

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KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review per Amore, Greta, Butera, Ambra, Spoto, Giulia, Valentini, Giulia, Saia, Maria Concetta, Salpietro, Vincenzo, Calì, Francesco, Di Rosa, Gabriella, Nicotera, Antonio Gennaro

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New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment per Riva, Antonella, Golda, Alice, Balagura, Ganna, Amadori, Elisabetta, Vari, Maria Stella, Piccolo, Gianluca, Iacomino, Michele, Lattanzi, Simona, Salpietro, Vincenzo, Minetti, Carlo, Striano, Pasquale

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