Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Filippo Santorelli"'
Autor:
Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-20 (2022)
Abstract Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myo
Externí odkaz:
https://doaj.org/article/3ed5f40b63494afb99f982bee9a3292a
Autor:
Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili, Enrico Bertini, Isabella Moroni
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in childhood. Numerous report
Externí odkaz:
https://doaj.org/article/5ccf0959ddf84ea0a5df4c99775bc8cc
Autor:
Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract Background Mutations in lysyl-tRNA synthetase (KARS1), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot–Marie–Tooth type CMTRIB,
Externí odkaz:
https://doaj.org/article/a4f93a71a1704f7bae04c376b874ef42
Autor:
Irene Sambri, Filomena Massa, Francesca Gullo, Simone Meneghini, Laura Cassina, Michela Carraro, Giorgia Dina, Angelo Quattrini, Lorenzo Patanella, Annamaria Carissimo, Antonella Iuliano, Filippo Santorelli, Franca Codazzi, Fabio Grohovaz, Paolo Bernardi, Andrea Becchetti, Giorgio Casari
Publikováno v:
EBioMedicine, Vol 61, Iss , Pp 103050- (2020)
Background: Mutations of the mitochondrial protein paraplegin cause hereditary spastic paraplegia type 7 (SPG7), a so-far untreatable degenerative disease of the upper motoneuron with still undefined pathomechanism.The intermittent mitochondrial perm
Externí odkaz:
https://doaj.org/article/7bc7010fcb7f41d8a97d1eeb67566f89
Autor:
Mattia Vicario, Ginevra Zanni, Francesca Vallese, Filippo Santorelli, Alessandro Grinzato, Domenico Cieri, Paola Berto, Martina Frizzarin, Raffaele Lopreiato, Francesco Zonta, Stefania Ferro, Michele Sandre, Oriano Marin, Maria Ruzzene, Enrico Bertini, Giuseppe Zanotti, Marisa Brini, Tito Calì, Ernesto Carafoli
Publikováno v:
Neurobiology of Disease, Vol 115, Iss , Pp 157-166 (2018)
The fine regulation of intracellular calcium is fundamental for all eukaryotic cells. In neurons, Ca2+ oscillations govern the synaptic development, the release of neurotransmitters and the expression of several genes. Alterations of Ca2+ homeostasis
Externí odkaz:
https://doaj.org/article/e150d2b6b39046888fbd11d8fd4b98bd
Autor:
Valentina Serpieri, Tommaso Biagini, Concetta Mazzotta, Rosa Pasquariello, Anna Rubegni, Filippo Santorelli, Gerardo Ongari, Silvia Cerri, Tommaso Mazza, Roberta Battini, Enza Maria Valente
Publikováno v:
Applied Sciences, Vol 11, Iss 2, p 748 (2021)
Background: Peptidase mitochondrial processing alpha (PMPCA) biallelic mutations cause a spectrum of disorders ranging from severe progressive multisystemic mitochondrial encephalopathy to a milder non-progressive cerebellar ataxia with or without in
Externí odkaz:
https://doaj.org/article/b526d64388db4a0fa92dffbe94a18fc5
Autor:
RUGGIERO, LUCIA, MANGANELLI, FIORE, IODICE, ROSA, DUBBIOSO, RAFFAELE, SANTORO, LUCIO, Chiara Fiorillo, Alessandra Tessa, Floriana Vitale, Eugenia Storti, Ernesto Soscia, Filippo Santorelli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::219e2721757da622cd5e0d4f401d8859
http://hdl.handle.net/11588/595700
http://hdl.handle.net/11588/595700
Autor:
Ferdinando Palmieri, Filippo Santorelli, Guiseppe Fiermonte, Laura David, Vincenza Dolce, John E. Walker, Carlo Dionisi-Vici
Publikováno v:
Journal of Biological Chemistry. 278:32778-32783
Two isoforms of the human ornithine carrier, ORC1 and ORC2, have been identified by overexpression of the proteins in bacteria and by study of the transport properties of the purified proteins reconstituted into liposomes. Both transport L-isomers of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dea30a2d0346a5f3ffea365f1111801a
https://doi.org/10.1074/jbc.m302317200
https://doi.org/10.1074/jbc.m302317200
Autor:
Lucia Ruggiero, Chiara Fiorillo, Alessandra Tessa, Fiore Manganelli, Rosa Iodice, Raffaele Dubbioso, Floriana Vitale, Eugenia Storti, Ernesto Soscia, Filippo Santorelli, Lucio Santoro
Publikováno v:
Muscle & nerve (Online) (2014). doi:10.1002/mus.24467
info:cnr-pdr/source/autori:Lucia Ruggiero, Chiara Fiorillo, Alessandra Tessa, Fiore Manganelli, Rosa Iodice, Raffaele Dubbioso, Floriana Vitale, Eugenia Storti, Ernesto Soscia, Filippo Santorelli, Lucio Santoro/titolo:Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene/doi:10.1002%2Fmus.24467/rivista:Muscle & nerve (Online)/anno:2014/pagina_da:/pagina_a:/intervallo_pagine:/volume
info:cnr-pdr/source/autori:Lucia Ruggiero, Chiara Fiorillo, Alessandra Tessa, Fiore Manganelli, Rosa Iodice, Raffaele Dubbioso, Floriana Vitale, Eugenia Storti, Ernesto Soscia, Filippo Santorelli, Lucio Santoro/titolo:Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene/doi:10.1002%2Fmus.24467/rivista:Muscle & nerve (Online)/anno:2014/pagina_da:/pagina_a:/intervallo_pagine:/volume
Introduction Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), dilated cardio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b26629df72b1b742960d5c85e588b4c4
https://pubmed.ncbi.nlm.nih.gov/25256213
https://pubmed.ncbi.nlm.nih.gov/25256213
Autor:
Daniela, Fortini, Federica, Cricchi, Roberto, Di Fabio, Maria, Damiano, Giovanna, Comanducci, Laura, Benedetti, Manuela, Valoppi, Gaetano S, Grieco, Ottavio, D'Eugenio, Andrea, Celato, Filippo, Santorelli, Carlo, Casali, Giuseppe A, Amabile, Francesco, Pierelli
Publikováno v:
Functional neurology. 18(1)
Hereditary spastic paraparesis (HSP) comprises a clinically and genetically heterogeneous group of disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. The past few years have witnessed an exponential increase in kn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ee0b5c14520a22c78ade64358db539f8
https://pubmed.ncbi.nlm.nih.gov/12760414
https://pubmed.ncbi.nlm.nih.gov/12760414