Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Ester Di Muro"'
Autor:
Giorgia Dinoi, Elena Conte, Orazio Palumbo, Mario Benvenuto, Maria Antonietta Coppola, Pietro Palumbo, Patrizia Lastella, Brigida Boccanegra, Ester Di Muro, Marco Castori, Massimo Carella, Vittorio Sciruicchio, Marina de Tommaso, Antonella Liantonio, Annamaria De Luca, Angela La Neve, Paola Imbrici
Publikováno v:
Biomedicines, Vol 12, Iss 8, p 1698 (2024)
Loss-, gain-of-function and mixed variants in SCN1A (Nav1.1 voltage-gated sodium channel) have been associated with a spectrum of neurologic disorders with different severity and drug-responsiveness. Most SCN1A variants are heterozygous changes occur
Externí odkaz:
https://doaj.org/article/1301cdd3bed04a10ad83ef8e40aba0bf
Autor:
Giuseppe d'Orsi, Andrea Farolfi, Lorenzo Muccioli, Orazio Palumbo, Pietro Palumbo, Sergio Modoni, Vincenzo Allegri, Valentina Garibotto, Maria Teresa Di Claudio, Ester Di Muro, Mario Benvenuto, Francesca Bisulli, Massimo Carella
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
PurposeTo evaluate the electro-clinical features in association with laboratory and instrumental correlates of neurodegeneration to detect the progression of Lafora disease (LD).MethodsWe investigated the electro-clinical longitudinal data and CSF A
Externí odkaz:
https://doaj.org/article/b8d93cea68bb4ca2abe0188201e25088
Autor:
Mario Benvenuto, Pietro Palumbo, Ester Di Muro, Concetta Simona Perrotta, Tommaso Mazza, Giuseppa Maria Luana Mandarà, Orazio Palumbo, Massimo Carella
Publikováno v:
Genes, Vol 14, Iss 10, p 1958 (2023)
The FOXP subfamily includes four different transcription factors: FOXP1, FOXP2, FOXP3, and FOXP4, all with important roles in regulating gene expression from early development through adulthood. Haploinsufficiency of FOXP1, due to deleterious variant
Externí odkaz:
https://doaj.org/article/e87451368fd94d31b1a3bf382f6a074c
Autor:
Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-9 (2020)
Abstract Background Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal abnormalities, genitour
Externí odkaz:
https://doaj.org/article/1c022617883045e4a95bf51de2fc4354
Autor:
Ester Di Muro, Pietro Palumbo, Mario Benvenuto, Maria Accadia, Marilena Carmela Di Giacomo, Sergio Manieri, Rosaria Abate, Maria Tagliente, Stefano Castellana, Tommaso Mazza, Massimo Carella, Orazio Palumbo
Publikováno v:
Genes, Vol 12, Iss 8, p 1116 (2021)
The cohesin complex is a large evolutionary conserved functional unit which plays an essential role in DNA repair and replication, chromosome segregation and gene expression. It consists of four core proteins, SMC1A, SMC3, RAD21, and STAG1/2, and by
Externí odkaz:
https://doaj.org/article/9c298c45408546bfaac48e180c5def1e
Autor:
Pietro Palumbo, Ester Di Muro, Maria Accadia, Mario Benvenuto, Marilena Carmela Di Giacomo, Stefano Castellana, Tommaso Mazza, Marco Castori, Orazio Palumbo, Massimo Carella
Publikováno v:
Genes, Vol 12, Iss 2, p 229 (2021)
Neurodevelopmental disorders (NDDs) are a group of highly prevalent, clinically and genetically heterogeneous pediatric disorders comprising, according to the Diagnostic and Statistical Manual of Mental Disorders 5th edition (DSM-V), intellectual dis
Externí odkaz:
https://doaj.org/article/73e9ad763bf048b7acc8bcfad381c22b
Autor:
Orazio Palumbo, Pietro Palumbo, Ester Di Muro, Luigia Cinque, Antonio Petracca, Massimo Carella, Marco Castori
Publikováno v:
Genes, Vol 11, Iss 6, p 707 (2020)
No data on interstitial microduplications of the 16q24.2q24.3 chromosome region are available in the medical literature and remain extraordinarily rare in public databases. Here, we describe a boy with a de novo 16q24.2q24.3 microduplication at the S
Externí odkaz:
https://doaj.org/article/4a1a9482d19b4d7e9b9d6d05c9898855
Autor:
Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Ester di Muro, Stefano Castellana, Luigi Bisceglia, Tommaso Mazza, Massimo Carella, Marco Castori
Publikováno v:
Genes, Vol 11, Iss 4, p 379 (2020)
Neurodevelopmental disorders are a challenge in medical genetics due to genetic heterogeneity and complex genotype-phenotype correlations. For this reason, the resolution of single cases not belonging to well-defined syndromes often requires an integ
Externí odkaz:
https://doaj.org/article/434425dff4654df3a573bf26421d5a60
Autor:
Mario Benvenuto, Pietro Palumbo, Ester Di Muro, Sergio Manieri, Rosaria Abate, Stefano Castellana, Orazio Palumbo, Marilena Carmela Di Giacomo, Maria Accadia, Massimo Carella, Tommaso Mazza, Maria Tagliente
Publikováno v:
Genes, Vol 12, Iss 1116, p 1116 (2021)
Genes
Genes
The cohesin complex is a large evolutionary conserved functional unit which plays an essential role in DNA repair and replication, chromosome segregation and gene expression. It consists of four core proteins, SMC1A, SMC3, RAD21, and STAG1/2, and by
Autor:
Pietro Palumbo, Nenad Bukvic, Nicola Laforgia, Alessandro Stella, Stefano Castellana, Marco Castori, Tommaso Mazza, Massimiliano Chetta, Maria Pia Leone, Ester Di Muro, Massimo Carella, Nicoletta Resta, Orazio Palumbo
Publikováno v:
Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-9 (2020)
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-9 (2020)
Background Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal abnormalities, genitourinary and