Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Agostino, Seresini"'
Autor:
Cristina Vercellati, Anna Paola Marcello, Bruno Fattizzo, Anna Zaninoni, Agostino Seresini, Wilma Barcellini, Paola Bianchi, Elisa Fermo
Publikováno v:
Frontiers in Physiology, Vol 13 (2022)
We investigated by targeted next generation sequencing the genetic bases of hereditary spherocytosis in 25 patients and compared the molecular results with the biochemical lesion of RBC membrane obtained by SDS-PAGE analysis. The HS diagnosis was bas
Externí odkaz:
https://doaj.org/article/21299625cbbe4185b034bf08490ad166
Autor:
Paola Castronovo, Sebastiano Aleo, Agostino Seresini, Federico Grilli, Emilio Brunati, Paola Marchisio, Sophie Guez, Donatella Milani
Publikováno v:
Genes, Vol 13, Iss 12, p 2197 (2022)
Kyphoscoliotic Ehlers–Danlos syndrome and 17p13.3 microduplication share multiple clinical features such as muscle hypotonia, cleft palate, and growth impairment. This paper describes a patient who was first diagnosed with the duplication and a dec
Externí odkaz:
https://doaj.org/article/32f81c125934475191fa90d14496b69f
Autor:
Plamena R. Angelova, Mario Barilani, Christopher Lovejoy, Marta Dossena, Mariele Viganò, Agostino Seresini, Daniela Piga, Sonia Gandhi, Gianni Pezzoli, Andrey Y. Abramov, Lorenza Lazzari
Publikováno v:
Redox Biology, Vol 14, Iss , Pp 474-484 (2018)
Sporadic cases account for 90â95% of all patients with Parkinson's Disease (PD). Atypical Parkinsonism comprises approximately 20% of all patients with parkinsonism. Progressive Supranuclear Palsy (PSP) belongs to the atypical parkinsonian diseases
Externí odkaz:
https://doaj.org/article/cfbf125881c74c9ca51add8118f061e2
Autor:
Edoardo Monfrini, Francesca Spagnolo, Margherita Canesi, Agostino Seresini, Augusto Rini, Bruno Passarella, Marco Percetti, Manuela Seia, Stefano Goldwurm, Viviana Cereda, Giacomo P. Comi, Gianni Pezzoli, Alessio Di Fonzo
Publikováno v:
Parkinsonism & Related Disorders. 94:37-39
VPS13C is a protein-coding gene involved in the regulation of mitochondrial function through the endolysosomal pathway in neurons. Homozygous and compound heterozygous VPS13C mutations are etiologically associated with early-onset Parkinson's disease
Autor:
Valentina Giannone, Manuela Seia, Barbara Marinelli, Agostino Seresini, Francesca Cortini, Angela Cecilia Pesatori, Alessandra Bassotti
Publikováno v:
Exploratory Research and Hypothesis in Medicine. 2:57-62
Collagenopathies are heterogeneous diseases that affect collagen proteins, which are ubiquitous in the body and characterized by the distinctive amino acid sequence Gly-X-Y. Next-generation sequencing (NGS) has gained an increasingly essential role i
Autor:
Agostino Seresini, Barbara Marinelli, Silvia Romi, Nicola Montano, Manuela Seia, Francesca Cortini, Alessandra Bassotti, Angela Cecilia Pesatori
Publikováno v:
Vascular and Endovascular Surgery. 51:141-145
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, ident
Autor:
Francesca, Cortini, Barbara, Marinelli, Manuela, Seia, Agostino, Seresini, Alessandra, Bassotti
Publikováno v:
Dermatology online journal. 24(9)
The article entitled "Ehlers-Danlos syndrome caused by the c.934Cgt;T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events" has been retracted because the description and characterization of the disease in a family m
Autor:
Francesca, Cortini, Barbara, Marinelli, Manuela, Seia, Agostino, Seresini, Alessandra, Bassotti
Publikováno v:
Dermatology online journal. 24(7)
Classic Ehlers-Danlos syndrome (cEDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of type I collagen fibrillogenesis, underlie this type
Autor:
Aristide Merola, Stefano Goldwurm, Leonardo Lopiano, Tiziana Martone, Elisa Montanaro, Sara Palermo, Mario Giorgio Rizzone, Alberto Romagnolo, Agostino Seresini, Margherita Fabbri
Publikováno v:
Journal of neurology. 265(9)
We sought to characterize the clinical, neuropsychological, electrophysiological, and neuroimaging features of Parkinson’s disease (PD) after over 35 years since the onset of motor symptoms. Five consecutively consenting PD patients treated with su
Publikováno v:
Dermatology Online Journal. 24
Author(s): Cortini, Francesca; Marinelli, Barbara; Seia, Manuela; Seresini, Agostino; Bassotti, Alessandra | Abstract: The article entitled “Ehlers-Danlos syndrome caused by the c.934CgT, p. Arg312Cys mutation in COL1A1 gene: an Italian family with