Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Vincenzo Damiano Salpietro"'
Autor:
Gianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, Mariasavina Severino, Alessandra D'Amico, Kirsten Brønstad, Mohammed AlOwain, Jennifer L. Morrison, Patricia G. Wheeler, Bryn D. Webb, Abdullah Alfalah, Michele Iacomino, Paolo Uva, Antonietta Coppola, Giuseppe Merla, Vincenzo Damiano Salpietro, Federico Zara, Pasquale Striano, Andrea Accogli, Thomas Arnesen, Leonilda Bilo
NAA20 is the catalytic subunit of the NatB complex, which is responsible for N-terminal acetylation of approximately 20% of the human proteome. Recently, pathogenic biallelic variants in NAA20 were associated with a novel neurodevelopmental disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f8ff26cbbb71547e869dd0bbe31bdf
https://hdl.handle.net/11588/920552
https://hdl.handle.net/11588/920552
Autor:
Georgia Ramantani, Vincenzo Damiano Salpietro, Alberto Fernández-Jaén, Vincenzo Belcastro, Chiara De Luca, Ming Lai, Barbara Carlini, Paolo Prontera, Christel Depienne, Celina von Stülpnagel, Caterina Cerminara, Alberto Verrotti, Gerhard Kluger, Letizia Camerota, Carlo Minetti, Gabriele Christine Wohlrab, Marcello Scala, Gert Wiegand, Pasquale Striano, David Lewis-Smith, Giuseppe Novelli, Paolo Scudieri, Francesco Brancati, Federico Zara, Felicitas Kluger, Rhys H. Thomas, Michele Iacomino, Nerses Bebek, Antonella Riva, Simona Baldassari, Andrea Accogli, Fabio Benfenati, Salvatore Striano
Publikováno v:
Neurology
article-version (Version of Record) 3
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
article-version (Version of Record) 3
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
ObjectiveTo describe the clinical and genetic findings in a cohort of individuals with bathing epilepsy, a rare form of reflex epilepsy.MethodsWe investigated by Sanger and targeted resequencing the SYN1 gene in 12 individuals from 10 different famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6cef2261dcca7d087f6ba19c43ea55d
https://hdl.handle.net/2108/329443
https://hdl.handle.net/2108/329443