Výsledky vyhledávání - "Francesco Martello"

Akademický článek

Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia

Autor: Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Daniela Orteschi, Marco Luigetti, Maria Alessandra Marrucci, Marcella Zollino, Mario Sabatelli, Giuseppe Marangi

Publikováno v: Stem Cell Research, Vol 62, Iss , Pp 102825- (2022)

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects motor neurons. In 20% of cases, ALS appears in comorbidity with frontotemporal dementia (FTD). We generated patient-derived-induced Pluripotent Stem Cel

Externí odkaz: https://doaj.org/article/2f475bb91d774b3dad6f12057bae2464

Zobrazit plný text záznamu

Akademický článek

Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant

Autor: Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Daniela Orteschi, Filomena Pirozzi, Mario Sabatelli, Marcella Zollino, Giuseppe Marangi

Publikováno v: Stem Cell Research, Vol 55, Iss , Pp 102461- (2021)

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting upper and lower motor neurons. We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS patient affected by an early-onset and aggressive

Externí odkaz: https://doaj.org/article/09de13cc8c8544ea972ad8fd83227b78

Zobrazit plný text záznamu

Akademický článek

Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

Autor: Filomena Altieri, Angela D'Anzi, Francesco Martello, Silvia Tardivo, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Gianluigi Mazzoccoli, Enza Maria Valente, Angelo Luigi Vescovi, Jessica Rosati

Publikováno v: Stem Cell Research, Vol 38, Iss , Pp - (2019)

Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the group of disorders known as ciliopathies, which are caused by mutations in genes encoding prot

Externí odkaz: https://doaj.org/article/f24f72951da54164b75fa842cf17bebb

Zobrazit plný text záznamu

Short Report: Analysis of STMN2 CA repeats in italian ALS patients shows no association

Autor: Paolo Niccolò Doronzio, Serena Lattante, Giuseppe Marangi, Francesco Martello, Amelia Conte, Giulia Bisogni, Daniela Bernardo, Agata Katia Patanella, Emiliana Meleo, Marcella Zollino, Mario Sabatelli

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease caused by a complex interaction of genetic and environmental factors. Recently, a polymorphic intronic CA repeat in STMN2 gene has been proposed as risk factor for ALS. The pres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4034::c2aebc967e529efdc5a9946e95976fad
https://hdl.handle.net/11587/492107

Zobrazit plný text záznamu

Analysis of

Autor: Paolo Niccolò, Doronzio, Serena, Lattante, Giuseppe, Marangi, Francesco, Martello, Amelia, Conte, Giulia, Bisogni, Daniela, Bernardo, Agata Katia, Patanella, Emiliana, Meleo, Marcella, Zollino, Mario, Sabatelli

Publikováno v: Amyotrophic lateral sclerosisfrontotemporal degeneration.

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease caused by a complex interaction of genetic and environmental factors. Recently, a polymorphic intronic CA repeat in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::18d28fbe8f6c11b8c506de150edf32b3
https://pubmed.ncbi.nlm.nih.gov/35876065

Zobrazit plný text záznamu

Novel variants and cellular studies on patients’ primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis

Autor: Amelia Conte, Marcella Zollino, Agata Katia Patanella, Giulia Bisogni, Emiliana Meleo, Paolo Niccolò Doronzio, Angela Romano, Davide Colavito, Mario Sabatelli, Elda Del Giudice, Francesco Martello, Serena Lattante, Daniela Bernardo, Giuseppe Marangi

Publikováno v: Human Molecular Genetics. 30:65-71

In the last few years, NEK1 has been identified as a new gene related to amyotrophic lateral sclerosis (ALS). Loss-of-function variants have been mostly described, although several missense variants exist, which pathogenic relevance remains to be est

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad311c6164b36fd9e6b165c030202c2a
https://doi.org/10.1093/hmg/ddab015

Zobrazit plný text záznamu