Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Alessandra Terracciano"'
Autor:
Roberto Novizio, Alessandra Terracciano, Margherita Lucia De Bernardi, Davide De Brasi, Achille Iolascon, Matteo Della Monica, Francesco Scavuzzo, Domenico Serino, Antonio Novelli, Carmelo Piscopo
Publikováno v:
Endocrine, Metabolic & Immune Disorders - Drug Targets. 23
Background: X-linked hypophosphatemia is the most prevalent form of heritable rickets, characterized by an X-linked dominant inheritance pattern. The genetic basis of X-linked hypophosphatemia is a loss-of-function mutation in the PHEX gene (Phosphat
Autor:
Silvia Radenkovic, Diego Martinelli, Yuebo Zhang, Graeme J. Preston, Arianna Maiorana, Alessandra Terracciano, Maria Lisa Dentici, Elisa Pisaneschi, Antonio Novelli, Wasantha Ranatunga, Anna N. Ligezka, Bart Ghesquière, David R. Deyle, Tamas Kozicz, Filippo Pinto e Vairo, Peter Witters, Eva Morava
Publikováno v:
Genetics in Medicine. 24:894-904
TRAPPC9 deficiency is an autosomal recessive disorder mainly associated with intellectual disability (ID), microcephaly, and obesity. Previously, TRAPPC9 deficiency has not been associated with biochemical abnormalities.Exome sequencing was performed
Autor:
Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Paolo Alfieri, Alessandra Terracciano, Claudia Cesario, Ippolita Rana, Marina Macchiaiolo, Michaela Veronika Gonfiantini, Davide Vecchio, Maria Cristina Digilio, Maria Lisa Dentici, Francesca Cumbo, Antonio Novelli, Andrea Bartuli
Publikováno v:
Clinical Dysmorphology. 31:74-78
Autor:
Marina Trivisano, Angela De Dominicis, Alessia Micalizzi, Alessandro Ferretti, Maria Lisa Dentici, Alessandra Terracciano, Costanza Calabrese, Federico Vigevano, Giuseppe Novelli, Antonio Novelli, Nicola Specchio
Mutations in the MED13 gene are reported in the literature in association with clinically variable, neurodevelopmental disorders, which are characterized by mild-to-severe intellectual disability, autism spectrum disorder, attention deficit/hyperacti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a386f9c55a05bfbdff2ede3c0b0a17c
https://hdl.handle.net/2108/321972
https://hdl.handle.net/2108/321972
Autor:
Lorenzo Sinibaldi, Alessia Micalizzi, Annalisa Serra, Alessandro Crocoli, Francesca Diomedi Camassei, Domenico Barbuti, Maria Lisa Dentici, Alessandra Terracciano, Matteo Mattiuzzo, Antonio Novelli, Maria Cristina Digilio
Publikováno v:
Eur J Hum Genet
Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS: OMIM 300373), an X-linked sclerosing bone disorder. Female heterozygotes exhibit metaphyseal striations in long bones, macrocephaly, cleft palate, and, occa
Autor:
Luisa Sturiale, Agata Fiumara, Domenico Garozzo, Rita Barone, Alessandra Terracciano, Angelo Palmigiano, Francesca Esposito, Chiara Barone, Jaak Jaeken, Antonio Novelli, Emanuele Agolini, Angela Messina, Sebastiano Bianca
Publikováno v:
Glycoconjugate journal 36 (2019): 461–472. doi:10.1007/s10719-019-09890-2
info:cnr-pdr/source/autori:Sturiale L.; Bianca S.; Garozzo D.; Terracciano A.; Agolini E.; Messina A.; Palmigiano A.; Esposito F.; Barone C.; Novelli A.; Fiumara A.; Jaeken J.; Barone R./titolo:ALG12-CDG: novel glycophenotype insights endorse the molecular defect/doi:10.1007%2Fs10719-019-09890-2/rivista:Glycoconjugate journal/anno:2019/pagina_da:461/pagina_a:472/intervallo_pagine:461–472/volume:36
info:cnr-pdr/source/autori:Sturiale L.; Bianca S.; Garozzo D.; Terracciano A.; Agolini E.; Messina A.; Palmigiano A.; Esposito F.; Barone C.; Novelli A.; Fiumara A.; Jaeken J.; Barone R./titolo:ALG12-CDG: novel glycophenotype insights endorse the molecular defect/doi:10.1007%2Fs10719-019-09890-2/rivista:Glycoconjugate journal/anno:2019/pagina_da:461/pagina_a:472/intervallo_pagine:461–472/volume:36
Congenital disorders of glycosylation (CDG) are genetic diseases characterized by deficient synthesis (CDG type I) and/or abnormal processing (CDG type II) of glycan moieties linked to protein and lipids. The impact of the molecular defects on protei
Autor:
Marina Trivisano, Julien Jung, Lieven Lagae, Marco Tartaglia, Nathalie Villeneuve, Berge A. Minassian, Ilaria Guella, Ruo Ming Shi, Luca De Palma, Gregory M. Cooper, Alessandro Ferretti, Michelle L. Thompson, Ingrid E. Scheffer, Eri Takeshita, Antonio Novelli, Gunnar M. Buyse, Michelle Demos, Alessandra Terracciano, Linda Huh, Federico Vigevano, Tomoko Kobayashi, Laurent Villard, Atsuo Kikuchi, Ryo Takeguchi, Gaetan Lesca, Maryline Carneiro, E. M. Bebin, Marie Laure Mathieu, Nicola Specchio, Mathieu Milh, Kazuhiro Haginoya, Aleksandra Siekierska, Nicola Pietrafusa
Publikováno v:
Epilepsia
Epilepsia, 2020, 61 (7), ⟨10.1111/epi.16582⟩
Epilepsia, Wiley, 2020, 61 (7), ⟨10.1111/epi.16582⟩
Epilepsia, 2020, 61 (7), ⟨10.1111/epi.16582⟩
Epilepsia, Wiley, 2020, 61 (7), ⟨10.1111/epi.16582⟩
International audience; Objective: Fibroblast-growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 gene encodes a cytosolic protein that interacts with neuronal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d4d1a11078ecaf1ba0275c15ca52819
https://hal-amu.archives-ouvertes.fr/hal-03149027
https://hal-amu.archives-ouvertes.fr/hal-03149027
Autor:
Chiara Gioia, Eleonora Galosi, Alessandra Fasolino, Manuela Di Franco, Caterina Leone, Bruno Lucchino, Giorgio Cruccu, Andrea Truini, Giulia Di Stefano, Alessandra Terracciano
We aimed to investigate whether small-fibre pathology, a common skin biopsy finding in patients with fibromyalgia, implies clinically important abnormalities of somatosensory system function and verify whether it is associated with voltage-gated sodi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::849b8289ad01558501449282f3d65366
http://hdl.handle.net/11573/1453966
http://hdl.handle.net/11573/1453966
Autor:
Alessandra Terracciano, Orsetta Zuffardi, Sara Giangiobbe, Marco Tartaglia, Gianluca Contrò, Livia Garavelli, Alessia Micalizzi, Manuela Napoli, Roberta Zuntini, Simonetta Rosato, Stefano Giuseppe Caraffi, Francesca Clementina Radio, Carlo Fusco, Susanna Rizzi, Grazia Gabriella Salerno, Marcello Niceta, Giancarlo Gargano, Antonio Novelli, Elena Parrini, Renzo Guerrini, Marzia Pollazzon
Publikováno v:
Genes, Vol 12, Iss 1208, p 1208 (2021)
Genes
Volume 12
Issue 8
Genes
Volume 12
Issue 8
Lissencephaly describes a group of conditions characterized by the absence of normal cerebral convolutions and abnormalities of cortical development. To date, at least 20 genes have been identified as involved in the pathogenesis of this condition. V
Autor:
Luisa Sturiale, Sebastiano Bianca, Domenico Garozzo, Alessandra Terracciano, Emanuele Agolini, Angela Messina, Angelo Palmigiano, Francesca Esposito, Chiara Barone, Antonio Novelli, Agata Fiumara, Jaak Jaeken, Rita Barone
Publikováno v:
info:cnr-pdr/source/autori:Luisa Sturiale, Sebastiano Bianca, Domenico Garozzo, Alessandra Terracciano, Emanuele Agolini, Angela Messina, Angelo Palmigiano, Francesca Esposito, Chiara Barone, Antonio Novelli, Agata Fiumara, Jaak Jaeken, Rita Barone/titolo:NOVEL GLYCOSYLATION INSIGHTS IN ALG12-CDG/titolo_volume:/curatori_volume:/editore:/anno:2019
Congenital disorders of glycosylation (CDG) are inherited metabolic diseases affecting the glycan biosynthesis of glycoconjugates [1]. They represent an expanding group of multisystemic diseases with variable phenotypes and prevalent neurological inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::d5281f2e570668b825347c393de71cb9
http://www.cnr.it/prodotto/i/413948
http://www.cnr.it/prodotto/i/413948