Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Chiara Pizzamiglio"'
Autor:
William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist multidi
Externí odkaz:
https://doaj.org/article/08d61047bd944df7b04fb88435d3cd14
Autor:
Matteo Ciocca, Chiara Pizzamiglio
Publikováno v:
CNS & Neurological Disorders - Drug Targets. 22
Parkinson’s disease is the second most common neurodegenerative disease. Mitochondrial dysfunction has been associated with neurodegeneration in Parkinson’s disease, and several treatments targeting mitochondria have been tested in these patients
Autor:
Róisín M. Boggan, Yi Shiau Ng, Imogen G. Franklin, Charlotte L. Alston, Emma L. Blakely, Boriana Büchner, Enrico Bugiardini, Kevin Colclough, Catherine Feeney, Michael G. Hanna, Andrew T. Hattersley, Thomas Klopstock, Cornelia Kornblum, Michelangelo Mancuso, Kashyap A. Patel, Robert D. S. Pitceathly, Chiara Pizzamiglio, Holger Prokisch, Jochen Schäfer, Andrew M. Schaefer, Maggie H. Shepherd, Annemarie Thaele, Rhys H Thomas, Doug M. Turnbull, Cathy E. Woodward, Gráinne S. Gorman, Robert McFarland, Robert W. Taylor, Heather J. Cordell, Sarah J. Pickett
Maternally inherited mitochondrial diseases are caused by pathogenic mitochondrial (mt)DNA variants. Affecting individuals at any age, they are often multi-systemic and manifest extreme clinical variability. We have limited understanding of the cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bae12a4d9113f080953b92861f1f30e5
https://doi.org/10.1101/2022.11.18.22282450
https://doi.org/10.1101/2022.11.18.22282450
Publikováno v:
Nat Rev Methods Primers
Orphan drug development is a rapidly expanding field. Nevertheless, clinical trials for rare diseases can present inherent challenges. Optimal study design and partnerships between academia and industry are therefore required for the successful devel
Autor:
Nayana Lahiri, Dominic G. O’Donovan, Francesco Muntoni, Subash Somalanka, Rahul Phadke, Niranjanan Nirmalananthan, Rosaline Quinlivan, Philip J. Ostrowski, Chiara Pizzamiglio, Bhrigu Sood
Publikováno v:
Neuromuscular Disorders. 30:566-571
LPIN1 mutations are a known common cause of autosomal recessive, recurrent and life-threatening acute rhabdomyolysis of childhood-onset. The first episode of rhabdomyolysis usually happens in nearly all cases before the age of 5 and death is observed
Autor:
Chiara Pizzamiglio, Cristoforo Comi, Chiara Saggia, Roberto Cantello, Valentina Rossi, Paolo Prandi, Nausicaa Clemente, Gionata Strigaro, Paolo Ripellino, Pier Luigi Foglio Bonda
Publikováno v:
Neurophysiologie Clinique. 50:47-54
Chemotherapy-induced peripheral neuropathy (CIPN) is a disabling complication related to taxanes. Underlying mechanisms are not completely understood and no specific treatment exists. We investigated the role of nerve conduction studies (NCS) and of
Autor:
Chiara, Pizzamiglio, Pedro M, Machado, Rhys H, Thomas, Gráinne S, Gorman, Robert, McFarland, Michael G, Hanna, Robert D S, Pitceathly
Publikováno v:
Neurology. 98(14)
Background and ObjectivesTo identify factors associated with severe coronavirus disease 2019 (COVID-19), defined by hospitalization status, in patients with primary mitochondrial diseases (PMDs), thereby enabling future risk stratification and inform
Autor:
William L. Macken, Enrico Bugiardini, Cathy E. Woodward, Robert D S Pitceathly, Michael G. Hanna, Chiara Pizzamiglio
Publikováno v:
Genes
Volume 12
Issue 10
Genes, Vol 12, Iss 1643, p 1643 (2021)
Volume 12
Issue 10
Genes, Vol 12, Iss 1643, p 1643 (2021)
Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be suspected in anyone with an acute/subacute onset of focal neurological symptoms at any age
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 44(6)
McArdle disease is caused by recessive mutations in PYGM gene. The condition is considered to cause a "pure" muscle phenotype with symptoms including exercise intolerance, inability to perform isometric activities, contracture, and acute rhabdomyolys
Autor:
Marta Sanz-Gómez, Elena Vega-Martín, Daniel González-Moreno, Chiara Pizzamiglio, Francisco J. Manzano-Lista, Peter Kolkhof, Reinhold Kreutz, María S. Fernández-Alfonso
Publikováno v:
Journal of Hypertension. 40:e37