Zobrazeno 1 - 10
of 189
pro vyhledávání: '"M A, Donati"'
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
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
https://doi.org/10.1016/j.ijcard.2022.09.034
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
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
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
http://hdl.handle.net/11567/1065202
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
https://doaj.org/article/d2168bc3b6004e819321b138547d27a7
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
https://doi.org/10.1093/eurpub/ckz185.474
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
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
https://hdl.handle.net/10668/14012
Autor:
Simona Salvatore, Nila Volpi, Michele Sacchini, Paola Tonin, Federico Melani, Filippo M. Santorelli, Giulia Bertocci, M. Alice Donati, Sara Lenzi, M. Teresa Dotti, Gabriele Siciliano, Anna Rubegni, Salvatore Grosso, Claudia Dosi, Deborah Tolomeo, Carla Battisti, Fabio Giannini, Guja Astrea, Renzo Guerrini, Jacopo Baldacci, Alessandro Malandrini, Antonio Federico, Denise Cassandrini, Maria Antonietta Maioli, Eugenio Mercuri
Publikováno v:
Neurology Genetics. 5:e352
ObjectiveNext-generation sequencing (NGS) was applied in molecularly undiagnosed asymptomatic or paucisymptomatic hyperCKemia to investigate whether this technique might allow detection of the genetic basis of the condition.MethodsSixty-six patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29b0b46fe48eca8bec5c3567773a0b81
https://doi.org/10.1212/nxg.0000000000000352
https://doi.org/10.1212/nxg.0000000000000352
Autor:
M. Carla Donati, Gianni Virgili, Alessandro Bini, Fabrizio Giansanti, Emilio Rapizzi, Giovanni Giacomelli, Ugo Menchini
Publikováno v:
Ophthalmologica. Oct2008, Vol. 223 Issue 1, p24-27. 4p.
Publikováno v:
Clinical Nephrology. 76:68-73
Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. Besides diarrhea-associated HUS, due to verotoxin-producing Escherichia coli, in children HUS without prodromal diarrhea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a144bd587095af8f0a98d71644a2c94
https://doi.org/10.5414/cn106681
https://doi.org/10.5414/cn106681