Resultados da busca - Salpietro, Vincenzo

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

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

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

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Further supporting evidence for REEP1 phenotypic and allelic heterogeneity por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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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