Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Annalisa Madeo"'
Autor:
Alessandro La Rosa, Angela Elvira Covone, Domenico Coviello, Serena Arrigo, Jacopo Ferro, Paolo Gandullia, Annalisa Madeo
Publikováno v:
Case Reports in Hepatology, Vol 2024 (2024)
Wilson’s disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, resulting in copper accumulation. Symptoms rarely appear before the age of 5, almost never before 3. The phenotypic variability of WD suggests the p
Externí odkaz:
https://doaj.org/article/111d19c2b2724da1a89bba7e11fbbba9
Publikováno v:
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 7-16 (2018)
Abstract Mucopolysaccharidoses (MPS) comprise a group of lysosomal disorders that are characterized by progressive, systemic clinical manifestations and a coarse phenotype. The different types, having clinical, biochemical, and genetic heterogeneity,
Externí odkaz:
https://doaj.org/article/12b4cf86bb3d4280823e28c0fc6aeea7
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Abstract Background Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has bee
Externí odkaz:
https://doaj.org/article/f4db1b1e368b47dea599d297c14f45b9
Autor:
Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth
Publikováno v:
PLoS Genetics, Vol 12, Iss 12, p e1006461 (2016)
Pain is necessary to alert us to actual or potential tissue damage. Specialized nerve cells in the body periphery, so called nociceptors, are fundamental to mediate pain perception and humans without pain perception are at permanent risk for injuries
Externí odkaz:
https://doaj.org/article/f492b077483e46c0b26c4994b8d51134
Autor:
Maja Di Rocco, Eduardo Forleo-Neto, Robert Pignolo, Richard Keen, Philippe Orcel, Thomas Funck-Brentano, Christian Roux, Sami Kolta, Annalisa Madeo, Judith S Bubbear, Jacek Tabarkiewicz, Małgorzata Szczepanek, Javier Bachiller-Corral, Angela M Cheung, Kathryn M Dahir, Esmée Botman, Pieter G Raijmakers, Mona Al Mukaddam, Lianne Tile, Cynthia Portal-Celhay, Neena Sarkar, Peijie Hou, Bret Musser, Anita Boyapati, Kusha Mohammadi, Scott Mellis, Andrew J. Rankin, Aris N. Economides, Dinko Gonzalez Trotter, Gary Herman, Sarah J. O’Meara, Richard DelGizzi, David M. Weinreich, George D. Yancopolous, E. Marelise W. Eekhoff, Frederick S. Kaplan
BackgroundFibrodysplasia ossificans progressiva (FOP), an ultra-rare disorder caused by mutations in the gene encoding activin A receptor type 1 (ACVR1), is characterized by painful flare-ups and cumulative heterotopic ossification (HO). Garetosmab,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c882b21013c888887c75dbb8599f68a0
https://doi.org/10.1101/2023.01.11.23284254
https://doi.org/10.1101/2023.01.11.23284254
Autor:
Fabiola Di Dato, Angelo Di Giorgio, Claudia Mandato, Giuseppe Maggiore, Raffaele Iorio, Marina Aloi, Roberto Antonucci, Claudia Banzato, Valentina Buccella, Pier Luigi Calvo, Angelo Campanozzi, Mara Cananzi, Simonetta Cherubini, Fernanda Cristofori, Lorenzo D’Antiga, Marco Deganello Saccomani, Anna De Giorgi, Valeria Dell’Omo, Federica Ferrari, Ruggiero Francavilla, Maurizio Giuseppe Fuoti, Paola Gaio, Francesco Graziano, Giuseppe Indolfi, Ramona Inferrera, Annalisa Madeo, Alessio Mesini, Fulvio Moramarco, Valentina Motta, Barbara Parma, Michele Pinon, Silvia Provera, Giusy Ranucci, Anna Tulone, Piero Valentini, Silvio Veraldi, Antonietta Villirillo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe9804ddb028ef03170d7b43c998ec1f
https://hdl.handle.net/11588/906674
https://hdl.handle.net/11588/906674
Autor:
Antonio Novelli, Anthony Vandersteen, Paola Grammatico, Erina Sasaki, Fransiska Malfait, Maja Di Rocco, Cecilia Giunta, Nicoletta Zoppi, Silvia Morlino, Dario Cocciadiferro, Alessandro Ferraris, Tommaso Mazza, Annalisa Madeo, Marianne Rohrbach, Emanuele Agolini, Marco Ritelli, Marina Colombi, Lucia Micale, Alan Hakim, Marco Castori, Willie Reardon, Sara Mackay
Publikováno v:
Clinical Genetics. 97:396-406
The 2017 classification of Ehlers-Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from osteogenesis imperfecta (OI). Previously, patients have been described with variable features of bot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a7d623f49339c311450887a1e477b6
https://doi.org/10.1111/cge.13683
https://doi.org/10.1111/cge.13683
Autor:
Nadia Bahi-Buisson, Pascale de Lonlay, Irène Ceballos-Picot, Maja Di Rocco, Annalisa Madeo, Anaïs Brassier
Publikováno v:
Molecular Genetics and Metabolism. 127:147-157
Background HPRT deficiency is a rare disorder of purine metabolism whose natural history is not fully understood. No optimal management recommendations exist. The objective of the present study is to characterize a large cohort of patients with HPRT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9fb5f3f47c3e1b822b88f7569a69574
https://doi.org/10.1016/j.ymgme.2019.06.001
https://doi.org/10.1016/j.ymgme.2019.06.001
Autor:
Renata Rizzo, Roberta Battini, Rossella Parini, Rita Barone, Gert Matthijs, Daniele Frattini, Domenico Garozzo, Elisa Biamino, Serena Gasperini, Giuseppe Sortino, Jaak Jaeken, Annalisa Madeo, Diego Martinelli, Maja Di Rocco, Fabio Pettinato, Agata Fiumara, Luisa Sturiale, F Sirchia, Giovanni Mostile, Amelia Morrone
Publikováno v:
Cerebellum (Lond., Print) 20 (2021): 596–605. doi:10.1007/s12311-021-01242-x
info:cnr-pdr/source/autori:Pettinato, Fabio; Mostile, Giovanni; Battini, Roberta; Martinelli, Diego; Madeo, Annalisa; Biamino, Elisa; Frattini, Daniele; Garozzo, Domenico; Gasperini, Serena; Parini, Rossella; Sirchia, Fabio; Sortino, Giuseppe; Sturiale, Luisa; Matthijs, Gert; Morrone, Amelia; Di Rocco, Maja; Rizzo, Renata; Jaeken, Jaak; Fiumara, Agata; Barone, Rita/titolo:Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)/doi:10.1007%2Fs12311-021-01242-x/rivista:Cerebellum (Lond., Print)/anno:2021/pagina_da:596/pagina_a:605/intervallo_pagine:596–605/volume:20
Cerebellum (London, England)
info:cnr-pdr/source/autori:Pettinato, Fabio; Mostile, Giovanni; Battini, Roberta; Martinelli, Diego; Madeo, Annalisa; Biamino, Elisa; Frattini, Daniele; Garozzo, Domenico; Gasperini, Serena; Parini, Rossella; Sirchia, Fabio; Sortino, Giuseppe; Sturiale, Luisa; Matthijs, Gert; Morrone, Amelia; Di Rocco, Maja; Rizzo, Renata; Jaeken, Jaak; Fiumara, Agata; Barone, Rita/titolo:Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)/doi:10.1007%2Fs12311-021-01242-x/rivista:Cerebellum (Lond., Print)/anno:2021/pagina_da:596/pagina_a:605/intervallo_pagine:596–605/volume:20
Cerebellum (London, England)
We aimed to identify clinical, molecular and radiological correlates of activities of daily living (ADL) in patients with cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), the most frequent congenital disorder of glycosylation. Twenty-six PMM2-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::564a5727be58aa4b9577de8c54ba4ae1
http://hdl.handle.net/11568/1116716
http://hdl.handle.net/11568/1116716
Publikováno v:
Journal of Clinical and Medical Images.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::438d6ed01c6cbc035830f5ffdc09db9a
https://doi.org/10.47829/jcmi.2020.5505
https://doi.org/10.47829/jcmi.2020.5505