Zobrazeno 1 - 10
of 218
pro vyhledávání: '"Isabella Moroni"'
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:
Federica Invernizzi, Rossella Izzo, Isabel Colangelo, Andrea Legati, Nadia Zanetti, Barbara Garavaglia, Eleonora Lamantea, Lorenzo Peverelli, Anna Ardissone, Isabella Moroni, Lorenzo Maggi, Silvia Bonanno, Laura Fiori, Daniele Velardo, Francesca Magri, Giacomo P. Comi, Dario Ronchi, Daniele Ghezzi, Costanza Lamperti
Publikováno v:
Genes, Vol 14, Iss 7, p 1393 (2023)
Introduction/Aims HyperCKemia is considered a hallmark of neuromuscular diseases. It can be either isolated or associated with cramps, myalgia, weakness, myoglobinuria, or rhabdomyolysis, suggesting a metabolic myopathy. The aim of this work was to i
Externí odkaz:
https://doaj.org/article/605e723c0c2d465699438f6f48d52687
Autor:
Alice Grossi, Federico Morelli, Marco Di Duca, Francesco Caroli, Isabella Moroni, Davide Tonduti, Tiziana Bachetti, Isabella Ceccherini
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/ef9e2311c99144118f91131b06d8120b
Autor:
Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 83-93 (2020)
Abstract Objective Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with R
Externí odkaz:
https://doaj.org/article/0451d47dda844ada9b1700050648a958
Autor:
Alice Grossi, Federico Morelli, Marco Di Duca, Francesco Caroli, Isabella Moroni, Davide Tonduti, Tiziana Bachetti, Isabella Ceccherini
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Alexander disease is a leukodystrophy caused by heterozygous mutations of GFAP gene. Recurrence in siblings from healthy parents provides a confirmation to the transmission of variants through germinal mosaicism. With the use of DNA isolated from per
Externí odkaz:
https://doaj.org/article/675f53cfb5734545be16bfd4da2d8cb9
Autor:
Emanuela Abiusi, Paola Infante, Cinzia Cagnoli, Ludovica Lospinoso Severini, Marika Pane, Giorgia Coratti, Maria Carmela Pera, Adele D'Amico, Federica Diano, Agnese Novelli, Serena Spartano, Stefania Fiori, Giovanni Baranello, Isabella Moroni, Marina Mora, Maria Barbara Pasanisi, Krizia Pocino, Loredana Le Pera, Davide D'Amico, Lorena Travaglini, Francesco Ria, Claudio Bruno, Denise Locatelli, Enrico Silvio Bertini, Lucia Ovidia Morandi, Eugenio Mercuri, Lucia Di Marcotullio, Francesco Danilo Tiziano
Publikováno v:
eLife, Vol 10 (2021)
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by the degeneration of the second motor neuron. The phenotype ranges from very severe to very mild forms. All patients have the homozygous loss of the SMN1 gene and a
Externí odkaz:
https://doaj.org/article/bbf222f706a849e584ec5dfb363b5831
Autor:
Federica Rachele Danti, Federica Invernizzi, Isabella Moroni, Barbara Garavaglia, Nardo Nardocci, Giovanna Zorzi
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Paroxysmal exercise-induced neurological symptoms (PENS) encompass a wide spectrum of clinical phenomena commonly presenting during childhood and characteristically elicited by physical exercise. Interestingly, few shared pathogenetic mechanisms have
Externí odkaz:
https://doaj.org/article/ab32dcdb82414658b62c83c1f0f921f8
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS
Autor:
Kayla M. D. Cornett, Manoj P. Menezes, Paula Bray, Rosemary R. Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Tim Estilow, Sabrina W. Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M. Reilly, Richard S. Finkel, Katy J. Eichinger, David N. Herrmann, Michael E. Shy, Joshua Burns, CMTPedS Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1713-1715 (2020)
Abstract The CMT Pediatric Scale (CMTPedS) is a reliable, valid, and responsive clinical outcome measure of disability in children with CMT. The aim of this study was to identify the most responsive patient subset(s), based on the standardized respon
Externí odkaz:
https://doaj.org/article/4e4fc26a6202461d90f33f1f848aad27
Autor:
Edmund S. Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G. Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P. Hoffman, M. Chiara Manzini
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Congenital muscular dystrophy type 1A (MDC1A), also termed merosin‐deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogeni
Externí odkaz:
https://doaj.org/article/30bb022ab7354e7990f235b44b44dd59