Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Alberto Casarin"'
Autor:
Kenneth Allen Dyar, Michaël Jean Hubert, Ashfaq Ali Mir, Stefano Ciciliot, Dominik Lutter, Franziska Greulich, Fabiana Quagliarini, Maximilian Kleinert, Katrin Fischer, Thomas Oliver Eichmann, Lauren Emily Wright, Marcia Ivonne Peña Paz, Alberto Casarin, Vanessa Pertegato, Vanina Romanello, Mattia Albiero, Sara Mazzucco, Rosario Rizzuto, Leonardo Salviati, Gianni Biolo, Bert Blaauw, Stefano Schiaffino, N Henriette Uhlenhaut
Publikováno v:
PLoS Biology, Vol 16, Iss 8, p e2005886 (2018)
Circadian clocks are fundamental physiological regulators of energy homeostasis, but direct transcriptional targets of the muscle clock machinery are unknown. To understand how the muscle clock directs rhythmic metabolism, we determined genome-wide b
Externí odkaz:
https://doaj.org/article/2baff020749c46b7943454ca2b934a95
Autor:
Giampiero Viola, Luis Vazquez Fonseca, Eva Trevisson, Fabien Pierrel, Alberto Casarin, Cristina Cerqua, Leonardo Salviati
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, 9 (1), ⟨10.1038/s41598-019-43014-y⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)
Scientific Reports, Nature Publishing Group, 2019, 9 (1), ⟨10.1038/s41598-019-43014-y⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)
Coenzyme Q10 (CoQ10) deficiencies are a group of heterogeneous conditions that respond to ubiquinone administration if treated soon after the onset of symptoms. However, this treatment is only partially effective due to its poor bioavailability. We t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e813743d842acbf104bd8389e05b484b
http://hdl.handle.net/11577/3303578
http://hdl.handle.net/11577/3303578
Autor:
Thomas O. Eichmann, Mattia Albiero, Alberto Casarin, Michaël Jean Hubert, Vanessa Pertegato, Maximilian Kleinert, Katrin Fischer, Fabiana Quagliarini, Bert Blaauw, Vanina Romanello, S. Mazzucco, Ashfaq Ali Mir, Franziska Greulich, Rosario Rizzuto, Gianni Biolo, Dominik Lutter, Stefano Schiaffino, Leonardo Salviati, Marcia Ivonne Peña Paz, Stefano Ciciliot, Lauren E. Wright, Kenneth A. Dyar, N. Henriette Uhlenhaut
Publikováno v:
PLoS Biology
PLoS Biology, Vol 16, Iss 8, p e2005886 (2018)
PLoS Biol. 16:e2005886 (2018)
PLoS Biology, Vol 16, Iss 8, p e2005886 (2018)
PLoS Biol. 16:e2005886 (2018)
Circadian clocks are fundamental physiological regulators of energy homeostasis, but direct transcriptional targets of the muscle clock machinery are unknown. To understand how the muscle clock directs rhythmic metabolism, we determined genome-wide b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::144d0dd747e2575e3331938e8e842bdb
http://hdl.handle.net/10044/1/61816
http://hdl.handle.net/10044/1/61816
Autor:
Alberto Casarin, Sabrina Sacconi, Ana Maria Cobo, Leonardo Salviati, Rafaëlle Bernard, Claude Desnuelle, Christophe Pécheux, Jean Christophe Antoine, Andoni Urtizberea, Léonard Féasson
Publikováno v:
Neuromuscular Disorders. 22:66-72
Mutations in the CRYAB gene, encoding alpha-B crystallin, cause distinct clinical phenotypes including isolated posterior polar cataract, myofibrillar myopathy, cardiomyopathy, or a multisystemic disorder combining all these features. Genotype/phenot
Autor:
Matteo Cassina, Chiara Rigon, Marilena Vecchi, Luca De Palma, Alberto Casarin, Paola Drigo, Maurizio Clementi
Publikováno v:
Seizure. 20:813-816
Epilepsies can be caused by specific genetic anomalies or by non-genetic factors, but in many cases the underlying cause is unknown.Mutations in the SCN1A and SCN2A genes are reported in childhood epilepsies; in particular SCN1A was found mutated in
Autor:
Stefano Sartori, Alberto Casarin, Paola Drigo, Irene Toldo, Laura Anesi, Alessandra Murgia, Roberta Polli
Publikováno v:
Journal of Child Neurology. 23:912-915
Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, absence of speech, seizures, abnormal electroencephalography (EEG), and happy disposition. The syndrome results from lack of function of the maternal copy of the
Autor:
Eva Trevisson, Maurizio Clementi, Leonardo Salviati, Corrado Angelini, Alberto Burlina, Orsetta Zuffardi, Marco Spinazzi, Plácido Navas, Giada Lunardi, Alberto Casarin, María Angeles Hernández, Giovanna Cenacchi, Annalisa Vetro, Ivan Limongelli, Mara Doimo, Maria Andrea Desbats, Lino Chiandetti
Publikováno v:
Eur J Hum Genet
Eur J Hum Genet, 2015, 23, pp.1254-1258. ⟨10.1038/ejhg.2014.277⟩
European Journal of Human Genetics
Digital.CSIC. Repositorio Institucional del CSIC
instname
Eur J Hum Genet, 2015, 23, pp.1254-1258. ⟨10.1038/ejhg.2014.277⟩
European Journal of Human Genetics
Digital.CSIC. Repositorio Institucional del CSIC
instname
Coenzyme Q10 deficiency is a clinically and genetically heterogeneous disorder, with manifestations that may range from fatal neonatal multisystem failure, to adult-onset encephalopathy. We report a patient who presented at birth with severe lactic a
Autor:
Nella Augusta Greggio, Eva Trevisson, Annamaria Di Meglio, Alberto Casarin, Leonardo Salviati, Kathrin Ludwig, Elisabetta Lenzini, Maurizio Clementi, Renzo Manara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5381d98778e2226b8a682242a73f3e37
http://hdl.handle.net/11577/3146955
http://hdl.handle.net/11577/3146955
Autor:
Marta Donà, Gianpietro Giorgi, Maurizio Clementi, Claudio Graziano, Leonardo Salviati, Luigi Picci, Matteo Cassina, Alberto Casarin, Eva Trevisson
Publikováno v:
Clinical chemistry and laboratory medicine. 53(11)
Background Cystic fibrosis, caused by mutations of the CFTR gene, is the most common autosomal recessive condition in the European population and there are specific screening programs aimed at investigating healthy carriers. They are usually articula
Autor:
Virginia Vicenzi, Matteo Cassina, Chiara Rigon, Alberto Casarin, Leonardo Salviati, Maurizio Clementi
Publikováno v:
American journal of medical genetics. Part A. 167(6)
Au et al. [2014] reported on a girl with a 590 Kb deletion within chromosome 1q41q42 and suggested that FBXO28 is a major gene contributing to the neurodevelopmental, epileptic, and dysmorphologic phenotype of patients with 1q41q42 microdeletion synd