Zobrazeno 1 - 10
of 569
pro vyhledávání: '"Giacomo P, Comi"'
Autor:
Elena Abati, Claudia Alberti, Valentina Tambè, Anastasia Esseridou, Giacomo Pietro Comi, Stefania Corti, Giovanni Meola, Francesco Secchi
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionNon-invasive evaluation of myocardial tissue is a major goal of cardiac imaging. This is the case of myocardial fibrosis which is crucial in many myocardial diseases. Cardiac extracellular volume (ECV) was shown to indicate myocardial fib
Externí odkaz:
https://doaj.org/article/da753a0e46cc4c63b35ded990dd14567
Autor:
Delia Gagliardi, Eleonora Canzio, Paola Orsini, Pasquale Conti, Vita Sinisi, Cosimo Maggiore, Maria Carla Santarsia, Giuseppina Lagioia, Giovanna Lupis, Isabella Roppa, Gaetano Scianatico, Daniela Mancini, Stefania Corti, Giacomo Pietro Comi, Mattia Gentile, Delio Gagliardi
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1090-1096 (2024)
Abstract Objectives Mandatory newborn screening (NBS) for spinal muscular atrophy (SMA) was implemented for the first time in Italy at the end of 2021, allowing the identification and treatment of patients at an asymptomatic stage. Methods DNA sample
Externí odkaz:
https://doaj.org/article/3c513ea650a24dd089e6c37dbaece4e7
Autor:
Elena Abati, Eleonora Mauri, Martina Rimoldi, Barbara Madini, Francesca Patria, Giacomo Pietro Comi, Stefania Corti
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy, resulting from the degeneration of motor neurons in the spinal cord. A critical aspect of SMA is its impact on respiratory
Externí odkaz:
https://doaj.org/article/58f29a379f1b4b6c9230d9ef41e7382a
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
Autor:
Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentatio
Externí odkaz:
https://doaj.org/article/8fb71253fe8941deace9208bc912160a
Autor:
Giacomo Bitetto, Gianluca Lopez, Dario Ronchi, Alessandra Pittaro, Valentina Melzi, Erika Peverelli, Fulvia Milena Cribiù, Giacomo P. Comi, Giovanna Mantovani, Alessio Di Fonzo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Background Allgrove disease is a rare genetic syndrome characterized by adrenal insufficiency, alacrimia, achalasia and complex neurological involvement. Allgrove disease is due to recessive mutations in the AAAS gene, which encodes for the
Externí odkaz:
https://doaj.org/article/029ee6ac1a4f41e1add62471f6dac83f
Autor:
Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giovanni Meola, Serena Pagliarani
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionCACNA1S related congenital myopathy is an emerging recently described entity. In this report we describe 2 sisters with mutations in the CACNA1S gene and the novel phenotype of congenital myopathy and infantile onset episodic weakness.Cli
Externí odkaz:
https://doaj.org/article/6569a66ef1434ed79db81c82146022f2
Autor:
Martina Rimoldi, Gloria Romagnoli, Francesca Magri, Sara Antognozzi, Claudia Cinnante, Elena Saccani, Patrizia Ciscato, Simona Zanotti, Daniele Velardo, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Publikováno v:
Frontiers in Neurology, Vol 14 (2024)
Limb-girdle muscular dystrophy autosomal recessive 8 (LGMDR8) is a rare clinical manifestation caused by the presence of biallelic variants in the TRIM32 gene. We present the clinical, molecular, histopathological, and muscle magnetic resonance findi
Externí odkaz:
https://doaj.org/article/d180e895436a40228da323ce031c98b6
Autor:
Simone Scarcella, Laura Dell’Arti, Delia Gagliardi, Francesca Magri, Alessandra Govoni, Daniele Velardo, Claudia Mainetti, Valeria Minorini, Dario Ronchi, Daniela Piga, Giacomo Pietro Comi, Stefania Corti, Megi Meneri
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure. Maternally inherited mutations in
Externí odkaz:
https://doaj.org/article/840320b90ffd4463aa15edbbfdbf0c54
Autor:
Martina Rimoldi, Francesca Magri, Sara Antognozzi, Michela Ripolone, Sabrina Salani, Daniela Piga, Letizia Bertolasi, Simona Zanotti, Patrizia Ciscato, Francesco Fortunato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Isolated mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) deficiency is the second most frequent isolated respiratory chain defect. Causative mutations are mainly identified in structural COX subunits or in proteins involved i
Externí odkaz:
https://doaj.org/article/91ab41cbfebc447bbe1cb3ed47358bfb
Autor:
Arianna Manini, Delia Gagliardi, Megi Meneri, Sara Antognozzi, Roberto Del Bo, Giacomo Pietro Comi, Stefania Corti, Dario Ronchi
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-6 (2023)
Abstract Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of GGC repeats in NOTCH2NLC has been recently reported in 0.7% of sporadic ALS patient
Externí odkaz:
https://doaj.org/article/c9c9490f38d74103a17089462eeed7db