Zobrazeno 1 - 10 of 197 pro vyhledávání: '"M. A. DONATI"'
1
Akademický článek
Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency
Autor: C. Fazi, L. Lodi, L. Magi, C. Canessa, M. Giovannini, C. Pelosi, F. Pochiero, E. Procopio, M. A. Donati, C. Azzari, S. Ricci
Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)
BackgroundZellweger syndrome (ZS) is a congenital autosomal recessive disease within the spectrum of peroxisome biogenesis disorders, characterized by the impairment of peroxisome assembly. The presence of peroxisome enzyme deficiencies leads to comp
Externí odkaz: https://doaj.org/article/d6dba08c05c54dad86b12e98150c7227
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2
Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre
Autor: M, Pagano, C, Fumagalli, F, Girolami, S, Passantino, A, Gozzini, A, Brambilla, V, Spinelli, A, Morrone, E, Procopio, F, Pochiero, M A, Donati, I, Olivotto, S, Favilli
Publikováno v: International Journal of Cardiology. 371:516-522
Due to their rare prevalence and marked heterogeneity, pediatric cardiomyopathies (CMPs) are little known and scarcely reported. We report the etiology, clinical profile and outcome of a consecutive cohort of children diagnosed with CMP and followed
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc1381887c9197f67f86ac025c3dd392
https://doi.org/10.1016/j.ijcard.2022.09.034
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3
Akademický článek
The occurrence of two morphologically similar Chaetozone (Annelida: Polychaeta: Cirratulidae) species from the Italian seas: Chaetozone corona Berkeley & Berkeley, 1941 and C. carpenteri McIntosh, 1911
Autor: C. Munari, N. Bocchi, P. Parrella, T. Granata, L. Moruzzi, F. Massara, M. De Donati, M. Mistri
Publikováno v: The European Zoological Journal, Vol 84, Iss 1, Pp 541-553 (2017)
The present study reports the spread of the cirratulids Chaetozone corona Berkeley & Berkeley, 1941 and Chaetozone carpenteri McIntosh, 1911 in the Western Central Adriatic Sea, off the coasts of Pescara (Italy). The two species were collected betwee
Externí odkaz: https://doaj.org/article/d2168bc3b6004e819321b138547d27a7
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4
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study
Autor: Claudio Bruno, Giorgia Bruno, Annarita Ferrari, Federico Sicca, Lucia Ruggiero, Roberta Battini, Daniele Orsucci, Renzo Guerrini, M. Alice Donati, Francesca Pochiero, Anna Rubegni, Martino Montomoli, Francesco Mari, Deborah Tolomeo, Chiara Fiorillo, Claudia Nesti, Simone Sampaolo, Filippo M. Santorelli, Denise Cassandrini, Stefano Doccini, Elena Procopio, Jacopo Baldacci, Chiara Ticci, Simona Fiori
Publikováno v: Journal of Clinical Medicine; Volume 10; Issue 15; Pages: 3222
Journal of Clinical Medicine, Vol 10, Iss 3222, p 3222 (2021)
Journal of Clinical Medicine
Mitochondrial diseases (MDs) are a large group of genetically determined multisystem disorders, characterized by extreme phenotypic heterogeneity, attributable in part to the dual genomic control (nuclear and mitochondrial DNA) of the mitochondrial p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d8cc05ede8973b7205921082ae01381
http://hdl.handle.net/11567/1065202
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5
The occurrence of two morphologically similar Chaetozone (Annelida: Polychaeta: Cirratulidae) species from the Italian seas: Chaetozone corona Berkeley & Berkeley, 1941 and C. carpenteri McIntosh, 1911
Autor: M. De Donati, Francesca Massara, Letizia Moruzzi, P. Parrella, Cristina Munari, Nadia Bocchi, Michele Mistri, Tommaso Granata
Publikováno v: The European Zoological Journal, Vol 84, Iss 1, Pp 541-553 (2017)
The present study reports the spread of the cirratulids Chaetozone corona Berkeley & Berkeley, 1941 and Chaetozone carpenteri McIntosh, 1911 in the Western Central Adriatic Sea, off the coasts of Pescara (Italy). The two species were collected betwee
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::544af1c9f0ba6b99c5c26ade740caf55
https://doaj.org/article/d2168bc3b6004e819321b138547d27a7
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6
Combined healthy lifestyle factors and risk of all-cause and cardiovascular first hospitalization
Autor: G. de Gaetano, C. Cerletti, Mariarosaria Persichillo, A. De Curtis, Licia Iacoviello, A. Di Castelnuovo, M D Donati, S. Costanzo, Marialaura Bonaccio
Publikováno v: European Journal of Public Health. 29
Background We aimed to explore the association of combined healthy lifestyles with risk of first hospitalization for all-cause, cardiovascular disease (CVD), ischemic heart disease (IHD) and stroke in a southern Italian population-based cohort. We al
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::598c32fee81344bdb02c1980fc5d444d
https://doi.org/10.1093/eurpub/ckz185.474
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7
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy
Autor: Francisco Javier Aguirre‐Rodríguez, Susana G. Kalko, Elena Martín-Hernández, Fabiola Mavillard, Michio Hirano, Javier Torres-Torronteras, Bruce Levin, Marcos Madruga-Garrido, Cecilia Jimenez-Mallebrera, Yuqi Tu, Juan P. Morealejo‐Aycinena, Yuelin Long, Karin Kleinsteuber, Ramon Martí, Itxaso Marti, Jasim Uddin, Olga Serrano, Caterina Garone, Concepcion Álvarez del Vayo, M. Alice Donati, Francina Munell, John L.P. Thompson, Carmen Paradas, Cristina Domínguez-González, Andrés Nascimento, M. Dolores Sardina, Kristen Engelstad
Publikováno v: ANNALS OF NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Digital.CSIC. Repositorio Institucional del CSIC
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Ann Neurol
[Objective] Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as a myopathy usually beginn
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba628f1aa18bfad416c5dc37015aa45
https://hdl.handle.net/10668/14012
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8
Dietary patterns and fatty acids levels of three European populations. Results from the IMMIDIET study
Autor: G, Pounis, M, de Lorgeril, P, Salen, F, Laporte, V, Krogh, A, Siani, J, Arnout, F P, Cappuccio, M, van Dongen, M B, Donati, G, de Gaetano, L, Iacoviello, Agnieszka, Pampuch
Publikováno v: NMCD. Nutrition Metabolism and Cardiovascular Diseases (Online) 24 (2014): 883–890. doi:10.1016/j.numecd.2014.01.012
info:cnr-pdr/source/autori:Pounis G.; de Lorgeril M.; Salen P.; Laporte F.; Krogh V.; Siani A.; Arnout J.; Cappuccio F.P.; van Dongen M.; Donati M.B.; de Gaetano G.; Iacoviello L. European Collaborative Group of the IMMIDIET Project./titolo:Dietary patterns and fatty acids levels of three European populations. Results from the IMMIDIET study/doi:10.1016%2Fj.numecd.2014.01.012/rivista:NMCD. Nutrition Metabolism and Cardiovascular Diseases (Online)/anno:2014/pagina_da:883/pagina_a:890/intervallo_pagine:883–890/volume:24
Nutrition Metabolism and Cardiovascular Diseases, 24(8), 883-890. ELSEVIER SCI LTD
Background and aims: Differences in blood fatty acids (FAs) profile among populations with different lifestyle have partly been attributed to differences in food intake. A holistic approach in dietary guidance through dietary patterns is essential. T
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdf6f949f2aa3dcb4c421de299f6b721
https://doi.org/10.1016/j.numecd.2014.01.012
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