Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Lucchini Valeria"'
Autor:
Cheldi Antonella, Ronchi Dario, Bordoni Andreina, Bordo Bianca, Lanfranconi Silvia, Bellotti Maria Grazia, Corti Stefania, Lucchini Valeria, Sciacco Monica, Moggio Maurizio, Baron Pierluigi, Comi Giacomo Pietro, Colombo Antonio, Bersano Anna
Publikováno v:
BMC Neurology, Vol 13, Iss 1, p 8 (2013)
Abstract Background POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity
Externí odkaz:
https://doaj.org/article/ce7fb7fbec294cbb9fbaf14168d379c2
Autor:
Corti Stefania, Cereda Matteo, Lucchini Valeria, Fortunato Francesco, Tedeschi Silvana, Bordoni Andreina, Ciscato Patrizia, Sciacco Monica, Gandossini Sandra, Ghezzi Serena, Govoni Alessandra, D'Angelo Maria G, Del Bo Roberto, Magri Francesca, Moggio Maurizio, Bresolin Nereo, Comi Giacomo P
Publikováno v:
BMC Medical Genetics, Vol 12, Iss 1, p 37 (2011)
Abstract Background Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions and duplications account for appr
Externí odkaz:
https://doaj.org/article/0724eb8da1fb41bcabcf43739b0d4a90
Autor:
Betri Enrico, Lucchini Valeria, Villa Nicoletta, Baronchelli Simona, Lissoni Sara, Cavalli Pietro, Dalprà Leda
Publikováno v:
Molecular Cytogenetics, Vol 2, Iss 1, p 19 (2009)
Abstract Background Premature ovarian failure (POF) is a secondary hypergonadotrophic amenorrhea occurring before the age of 40 and affecting 1-3% of females. Chromosome anomalies account for 6-8% of POF cases, but only few cases are associated with
Externí odkaz:
https://doaj.org/article/556afb1487404c0498b47ac89f120fb8
Autor:
Coppedè, Nicola, Giannetto, Marco, Villani, Marco, Lucchini, Valeria, Battista, Edmondo, Careri, Maria, Zappettini, Andrea
Publikováno v:
In Organic Electronics March 2020 78
Autor:
Magri, Francesca, Bo, Roberto Del, D’Angelo, Maria Grazia, Sciacco, Monica, Gandossini, Sandra, Govoni, Alessandra, Napoli, Laura, Ciscato, Patrizia, Fortunato, Francesco, Brighina, Erika, Bonato, Sara, Bordoni, Andreina, Lucchini, Valeria, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo Pietro
Publikováno v:
In Neuromuscular Disorders November 2012 22(11):934-943
Autor:
Corti, Stefania, Donadoni, Chiara, Ronchi, Dario, Bordoni, Andreina, Fortunato, Francesco, Santoro, Domenico, Del Bo, Roberto, Lucchini, Valeria, Crugnola, Veronica, Papadimitriou, Dimitra, Salani, Sabrina, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo P.
Publikováno v:
In Journal of the Neurological Sciences 2009 276(1):170-174
Akademický článek
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Null ABCA3 in humans: Large homozygous ABCA3 deletion, correlation to clinical-pathological findings
Autor:
Carrera, Paola, Ferrari, Maurizio, Presi, Silvia, Ventura, Luisa, Vergani, Barbara, Lucchini, Valeria, Cogo, Paola, Carnielli, Virgilio P., Somaschini, Marco, Tagliabue, Paolo
A study was undertaken to analyze the clinical presentation, pulmonary function, and pathological features in two female siblings with neonatal pulmonary surfactant metabolism dysfunction, type 3 (MIM 610921). The clinical records of the siblings wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3ab949e186be0bf691a7148737f53f17
Autor:
LUCCHINI, VALERIA
Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of cerebellar degenerative disorders, characterized by progressive gait unsteadiness, hand incoordination and dysarthria. The mutational mechanism in spinocerebellar ataxia type1 (S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4e3b37624a3ba9f198de127556c3f44
Autor:
Ronchi, Dario, Fassone, Elisa, Bordoni, Andreina, Sciacco, Monica, Lucchini, Valeria, Di Fonzo, Alessio, Rizzuti, Mafalda, Colombo, Irene, Napoli, Laura, Ciscato, Patrizia, Moggio, Maurizio, Cosi, Alessandra, Collotta, Martina, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo P.
Publikováno v:
In Journal of the Neurological Sciences 15 September 2011 308(1-2):173-176