Výsledky vyhledávání - Pietro Fratta
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Cytoplasmic functions of TDP-43 and FUS and their role in ALS Autor Nicol Birsa, Matthew P. Bentham, Pietro Fratta
Vydáno 2019Revisão -
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The era of cryptic exons: implications for ALS-FTD Autor Puja R. Mehta, Anna‐Leigh Brown, Michael E. Ward, Pietro Fratta
Vydáno 2023Revisão -
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Proteasome Inhibition and Aggresome Formation in Sporadic Inclusion-Body Myositis and in Amyloid-β Precursor Protein-Overexpressing Cultured Human Muscle Fibers Autor Pietro Fratta, W. King Engel, Janis McFerrin, Kelvin J.A. Davies, Sharon W. Lin, Valerie Askanas
Vydáno 2005Artigo -
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C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes Autor Pietro Fratta, Sarah Mizielinska, Andrew J. Nicoll, Mire Zloh, Elizabeth Fisher, Gary N. Parkinson, Adrian M. Isaacs
Vydáno 2012Artigo -
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Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes Autor James N. Sleigh, Andrew P. Tosolini, David F. Gordon, Anny Devoy, Pietro Fratta, Elizabeth Fisher, Kevin Talbot, Giampietro Schiavo
Vydáno 2020Artigo -
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Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration Autor Agnes L. Nishimura, Vera Župunski, Claire Troakes, Claudia Kathe, Pietro Fratta, Michael Howell, Jean‐Marc Gallo, Tibor Hortobágyi, Christopher E. Shaw, Boris Rogelj
Vydáno 2010Artigo -
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Correlation of clinical and molecular features in spinal bulbar muscular atrophy Autor Pietro Fratta, Niranjanan Nirmalananthan, Luc Masset, Iwona Skorupinska, Toby Collins, Andrea Cortese, Sally Pemble, Andrea Malaspina, Elizabeth Fisher, Linda Greensmith, Michael G. Hanna
Vydáno 2014Artigo -
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Opinion: more mouse models and more translation needed for ALS Autor Elizabeth Fisher, Linda Greensmith, Andrea Malaspina, Pietro Fratta, Michael G. Hanna, Giampietro Schiavo, Adrian M. Isaacs, Richard W. Orrell, Thomas J. Cunningham, Abraham Acevedo‐Arozena
Vydáno 2023Revisão -
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Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy Autor Andrea Cortese, Vincent Plagnol, Stefen Brady, Roberto Simone, Tammaryn Lashley, Abraham Acevedo‐Arozena, Rohan de Silva, Linda Greensmith, Janice L. Holton, Michael G. Hanna, Elizabeth Fisher, Pietro Fratta
Vydáno 2014Artigo -
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HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing Autor Alexander Bampton, Ariana Gatt, Jack Humphrey, Sara Cappelli, Dipanjan Bhattacharya, S Foti, Anna‐Leigh Brown, Yasmine T. Asi, Yi Hua Low, Marco Foiani, Towfique Raj, Emanuele Buratti, Pietro Fratta, Tammaryn Lashley
Vydáno 2021Artigo -
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Seeded aggregation of TDP-43 induces its loss of function and reveals early pathological signatures Autor Carlo Scialò, Weijia Zhong, Somanath Jagannath, Oscar G. Wilkins, Davide Caredio, Marián Hruška-Plocháň, Flavio Lurati, Martina Peter, Elena De Cecco, Luigi Celauro, Adriano Aguzzi, Giuseppe Legname, Pietro Fratta, Magdalini Polymenidou
Vydáno 2025Artigo
Vyhledávací nástroje:
Související témata
Biology
Medicine
Disease
Genetics
Gene
Amyotrophic lateral sclerosis
Pathology
Neuroscience
Dementia
Frontotemporal dementia
Allele
Internal medicine
Trinucleotide repeat expansion
C9orf72
Cell biology
RNA
RNA splicing
Phenotype
Exon
Neurodegeneration
Alternative splicing
Biochemistry
Frontotemporal lobar degeneration
Loss function
Messenger RNA
Mutant
Mutation
Immunology
RNA-binding protein
SOD1