Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes

Autor: Alessandro Weisz, Anna Guacci, Angela Cordella, Giovanni Nassa, Stefano Pepe, Chiara Carlomagno, Teresa Rocco, Giorgio Giurato, Roberta Tarallo, Francesca Rizzo

Background Breast cancer (BC) is the most common neoplasm in women, with 5%-10% patients showing a familial predisposition, where germline mutations in BRCA1/BRCA2 genes are found in -20% of cases. Next-generation sequencing (NGS) is among the best a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ec637c58f83a194f204faf670a02c02
http://hdl.handle.net/11386/4706547

Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy

Autor: Maurizio Taglialatela, Anna Guacci, Maria Virginia Soldovieri, Paolo Ambrosino, Gianluca Casara, Marilena Vecchi, Ilaria Mosca, Francesca Rizzo, Laura Manocchio, Giovanna Marchese, Giangennaro Coppola, Teresa Rocco, Massimiliano Chetta, Alessandro Weisz

The KCNT1 gene encodes for subunits contributing to the Na(+)-activated K(+) current (KNa), expressed in many cell types. Mutations in KCNT1 have been found in patients affected with a wide spectrum of early-onset epilepsies, including Malignant Migr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88ac229c0829c8a71a74d72921e180dd
http://hdl.handle.net/11588/668117

SPG5 and multiple sclerosis: clinical and genetic overlap?

Autor: Maria Lieto, V. Brescia Morra, Rosa Carbone, A. Filla, Silvio Peluso, Mario Quarantelli, Roberta Lanzillo, Anna Guacci, G. De Michele, Chiara Criscuolo

Publikováno v: Acta neurologica Scandinavica (2015). doi:10.1111/ane.12476
info:cnr-pdr/source/autori:Criscuolo, C.; Carbone, R.; Lieto, M.; Peluso, S.; Guacci, A.; Filla, A.; Quarantelli, M.; Lanzillo, R.; Brescia Morra, V.; De Michele, G./titolo:SPG5 and multiple sclerosis: Clinical and genetic overlap?/doi:10.1111%2Fane.12476/rivista:Acta neurologica Scandinavica/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume
Europe PubMed Central

Background Autosomal recessive (AR) spastic paraplegia type 5 (SPG5) is due to mutations in the CYP7B1 gene, encoding for the cytochrome P450-7B1, responsible for oxysterols 7α-hydroxylation. Oxysterol/cholestenoic acids pool plays a role in motor n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e60e65a27fb3b3d2bc3c21a4e0e8f8f3
http://hdl.handle.net/11588/614046

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit

Autor: Francesco Saccà, Giuseppe De Michele, Guido Carlomagno, Raffaele Piro, Antonio Cittadini, Sergio Cocozza, Gaetano Perrotta, Alessandra Denaro, Anna Guacci, Alessandro Filla, Fabio Acquaviva, Giorgia Puorro, Angela Marsili, Antonella Antenora

Publikováno v: Movement Disorders. 26:739-742

Objective of the study was to test the efficacy, safety, and tolerability of two single doses of Epoetin alfa in patients with Friedreich's ataxia. Ten patients were treated subcutaneously with 600 IU/kg for the first dose, and 3 months later with 12

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3fc5fb31289bca8b71656496c3e5449b
https://doi.org/10.1002/mds.23435

Infantile spasms in early-onset Niemann–Pick disease with a novel compound heterozygous mutations in SMPD1 gene

Autor: Giovanna Marchese, Francesca Felicia Operto, Anna Guacci, Francesca Rizzo, Massimiliano Chetta, Giangennaro Coppola, Alessandro Weisz

Publikováno v: European Journal of Molecular & Clinical Medicine. 2:155

Niemann–Pick diseases are a group of rare autosomal recessive disorders caused by an inherited deficiency of lysosomal storage with similar clinical presentations. At least three different Niemann–Pick (NP) diseases have been described, with NPA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::54346efc3da14e89ab95fdffb7e4988b
https://doi.org/10.1016/j.nhtm.2015.11.001