Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Roberto Simone"'
Autor:
John R. Counsell, Rajvinder Karda, Juan Antinao Diaz, Louise Carey, Tatiana Wiktorowicz, Suzanne M.K. Buckley, Shima Ameri, Joanne Ng, Julien Baruteau, Filipa Almeida, Rohan de Silva, Roberto Simone, Eleonora Lugarà, Gabriele Lignani, Dirk Lindemann, Axel Rethwilm, Ahad A. Rahim, Simon N. Waddington, Steven J. Howe
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 12, Iss , Pp 626-634 (2018)
Viral vectors are rapidly being developed for a range of applications in research and gene therapy. Prototype foamy virus (PFV) vectors have been described for gene therapy, although their use has mainly been restricted to ex vivo stem cell modificat
Externí odkaz:
https://doaj.org/article/6238edf25cf544478737c499f40dbd36
Autor:
Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert‐Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie‐Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 1, Pp 22-31 (2017)
Abstract Intronic GGGGCC repeat expansions in C9orf72 are the most common known cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), which are characterised by degeneration of cortical and motor neurons, respectively. Repea
Externí odkaz:
https://doaj.org/article/1f8b61ee6cea4757929c90eeb5c2d015
Autor:
Phillip Smethurst, Jia Newcombe, Claire Troakes, Roberto Simone, Yun-Ru Chen, Rickie Patani, Katie Sidle
Publikováno v:
Neurobiology of Disease, Vol 96, Iss , Pp 236-247 (2016)
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND), and >95% of familial and sporadic cases involve the deposition of insoluble aggregated, phosphorylated and cleaved TDP-43 protein. Accumulating clinical and bi
Externí odkaz:
https://doaj.org/article/6929b45488254038bab5d64ab46c481b
Autor:
Francesca Magrinelli, Clarissa Rocca, Roberto Simone, Riccardo Zenezini Chiozzi, Zane Jaunmuktane, Niccolò E. Mencacci, Michele Tinazzi, Sandeep Jayawant, Andrea H. Nemeth, German Demidov, Henry Houlden, Kailash P. Bhatia
Publikováno v:
Movement Disorders. 38:347-353
Heterozygous NKX2-1 loss-of-function variants cause combinations of hyperkinetic movement disorders (MDs, particularly childhood-onset chorea), pulmonary dysfunction, and hypothyroidism. Mobile element insertions (MEIs) are potential disease-causing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5058942a7ab3f9e0f6450c7a492df8ac
https://doi.org/10.1002/mds.29280
https://doi.org/10.1002/mds.29280
Autor:
Riccardo, Ronco, Cecilia, Perini, Riccardo, Currò, Natalia, Dominik, Stefano, Facchini, Alice, Gennari, Roberto, Simone, Skye, Stuart, Sara, Nagy, Elisa, Vegezzi, Ilaria, Quartesan, Amar, El-Saddig, Timothy, Lavin, Arianna, Tucci, Agnieszka, Szymura, Luiz Eduardo, Novis De Farias, Alexander, Gary, Megan, Delfeld, Priscilla, Kandikatla, Nifang, Niu, Sanjukta, Tawde, Joseph, Shaw, James, Polke, Mary M, Reilly, Nick W, Wood, Emmanuele, Crespan, Christopher, Gomez, Jin Yun, Helen Chen, Jeremy Dan, Schmahmann, David, Gosal, Henry, Houlden, Soma, Das, Andrea, Cortese
Publikováno v:
Neurology.
Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult onset and slowly progressive sensory neuropathy, cerebellar dysfunction, and vestibular impairment. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::99c5c9bef884747d0fc17c5c8b62c065
https://pubmed.ncbi.nlm.nih.gov/36289003
https://pubmed.ncbi.nlm.nih.gov/36289003
Autor:
Filipa Almeida, Kavitha Siva, Oscar G. Wilkins, Gurvir S. Virdi, Warren Emmett, Elisavet Preza, Michela A. Denti, Jernej Ule, Claudia Manzoni, Alessandro Quattrone, Daniah Trabzuni, Victoria Kay, Mina Ryten, Thomas T. Warner, Roberto Simone, Jamie S. Mitchell, Natalia Barahona-Torres, Demis A. Kia, Per Svenningsson, Mazdak Ehteramyan, Andrew J. Lees, Raffaele Ferrari, Angelika Modelska, Geshanthi Hondhamuni, Jasmine Harley, Rohan de Silva, Vincent Plagnol, Rickie Patani, Alan Pittman, Justyna Zareba-Paslawska, John Hardy, Faiza Javad, Paola Zuccotti, Selina Wray
Publikováno v:
Nature
The human genome expresses thousands of natural antisense transcripts (NAT) that can regulate epigenetic state, transcription, RNA stability or translation of their overlapping genes1,2. Here we describe MAPT-AS1, a brain-enriched NAT that is conserv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d272b40dfe02a5f8381bb307045a35b
https://openaccess.sgul.ac.uk/id/eprint/113282/1/Simone2021_2016-04-05263D_text-Figures_final.pdf
https://openaccess.sgul.ac.uk/id/eprint/113282/1/Simone2021_2016-04-05263D_text-Figures_final.pdf
Autor:
Massimo Mastromatteo, Antonino Ravidà, Francesco Battistella, Roberto Simone Pinna, Gianluca Valenti
Publikováno v:
E3S Web of Conferences, Vol 312, p 04001 (2021)
The decarbonization of the residential sector is fundamental for energy transition. In this context, it is promising the introduction of hydrogen in natural gas networks in specific hydrogen districts. Accordingly, hydrogen meters are needed for acco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab7d77aaa36f53445235a123bc600630
http://hdl.handle.net/11311/1188995
http://hdl.handle.net/11311/1188995
Autor:
Lea R'Bibo, John C. Hedreen, Matthew Ellis, Gabor G. Kovacs, Kieren Allinson, Sebastian Brandner, Jean Paul Vonsattel, John Hardy, Thomas T. Warner, Eniko Veronika Kovari, Safa Al-Sarraj, David G. Mann, Glenda M. Halliday, Edwin Jabbari, Tamas Revesz, Johannes Attems, Helen Ling, Ellen Gelpi, James W. Ironside, Seth Love, Teisha Bradshaw, Roberto Simone, Rohan de Silva, Karen Davey, Núria Setó-Salvia, Kin Y. Mok, Daniela Hansen, Selina Wray, Janice L. Holton, Zane Jaunmuktane, Huw R. Morris
Publikováno v:
Acta Neuropathologica
Acta Neuropathologica, Vol. 139, No 4 (2020) pp. 717-734
Ling, H, Gelpi, E, Davey, K, Jaunmuktane, Z, Mok, K Y, Jabbari, E, Simone, R, R'Bibo, L, Brandner, S, Ellis, M, Attems, J, Mann, D, Halliday, G M, Al-Sarraj, S, Hedreen, J, Ironside, J W, Kovacs, G G, Kovari, E, Love, S, Vonsattel, J P G, Allinson, K S J, Hansen, D, Bradshaw, T, Setó-Salvia, N, Wray, S, de Silva, R, Morris, H R, Warner, T T, Holton, J L & Revesz, T 2020, ' Fulminant corticobasal degeneration : a distinct variant with predominant neuronal tau aggregates ', Acta Neuropathologica . https://doi.org/10.1007/s00401-019-02119-4
Acta Neuropathologica, Vol. 139, No 4 (2020) pp. 717-734
Ling, H, Gelpi, E, Davey, K, Jaunmuktane, Z, Mok, K Y, Jabbari, E, Simone, R, R'Bibo, L, Brandner, S, Ellis, M, Attems, J, Mann, D, Halliday, G M, Al-Sarraj, S, Hedreen, J, Ironside, J W, Kovacs, G G, Kovari, E, Love, S, Vonsattel, J P G, Allinson, K S J, Hansen, D, Bradshaw, T, Setó-Salvia, N, Wray, S, de Silva, R, Morris, H R, Warner, T T, Holton, J L & Revesz, T 2020, ' Fulminant corticobasal degeneration : a distinct variant with predominant neuronal tau aggregates ', Acta Neuropathologica . https://doi.org/10.1007/s00401-019-02119-4
Corticobasal degeneration typically progresses gradually over 5–7 years from onset till death. Fulminant corticobasal degeneration cases with a rapidly progressive course were rarely reported (RP-CBD). This study aimed to investigate their neuropat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c27e8e4743c2dd085f3d550f52436fb
https://www.repository.cam.ac.uk/handle/1810/306417
https://www.repository.cam.ac.uk/handle/1810/306417