Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Roisin Sullivan"'
Autor:
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan, Mary B. Makarious, Roisin Sullivan, Jana Vandrovcova, Jinhui Ding, J. Raphael Gibbs, Androo Markham, Mike A. Nalls, Rupesh K. Kesharwani, Fritz J. Sedlazeck, Bradford Casey, John Hardy, Henry Houlden, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-4 (2024)
Abstract A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a
Externí odkaz:
https://doaj.org/article/17599c960b3547c8b258745f95626779
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 4, Pp 1002-1004 (2021)
Externí odkaz:
https://doaj.org/article/356501dd3544460b89d8e48e3764176b
Autor:
Roisin Sullivan, Susan Heavey, David G Graham, Rachel Wellman, Saif Khan, Sri Thrumurthy, Benjamin S Simpson, Tina Baker, Sarah Jevons, Jose Ariza, Victor Eneh, Hayley Pye, Hayley Luxton, Rifat Hamoudi, Hayley Whitaker, Laurence B Lovat
Publikováno v:
PLoS ONE, Vol 15, Iss 3, p e0229791 (2020)
Saliva represents an ideal matrix for diagnostic biomarker development as it is readily available and requires no invasive collection procedures. However, salivary RNA is labile and rapidly degrades. Previous attempts to isolate RNA from saliva have
Externí odkaz:
https://doaj.org/article/bfb08694d38e4c588b963dcf60b1bbe1
Autor:
Amanda M. Pocratsky, Filipe Nascimento, M. Görkem Özyurt, Ian J. White, Roisin Sullivan, Benjamin J. O’Callaghan, Calvin C. Smith, Sunaina Surana, Marco Beato, Robert M. Brownstone
Publikováno v:
Sci Transl Med
Dystonia, a neurological disorder defined by abnormal postures and disorganized movements, is considered to be a neural circuit disorder with dysfunction arising within and between multiple brain regions. Given that spinal neural circuits constitute
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::816a69db610d00a1ba6b31e761dae75f
https://europepmc.org/articles/PMC7614689/
https://europepmc.org/articles/PMC7614689/
Autor:
Elisabet Waldenlind, Lou Grangeon, Nicholas W. Wood, Benjamin S. Simpson, Susie Lagrata, Laura Southgate, Aster V.E. Harder, Franziska Liesecke, Roisin Sullivan, Jana Vandrovcova, M. Zameel Cader, Prasanth Sivakumar, Carmen Fourier, Ingrid Kockum, Lisanne S. Vijfhuizen, Michail Vikelis, Janice Yip, Bendik S. Winsvold, Emer O'Connor, Joycee Adebimpe, Henry Houlden, Olivia Quinn, Richard C. Trembath, Koen Paemeleire, Stephanie Efthymiou, Manjit Matharu, Tim Kelderman, Caroline Ran, Fayyaz Ahmed, Nicola Giffin, Daisuke Danno, Christina Sjöstrand, Nicholas Silver, Andrea Carmine Belin, Isabel C Hostettler, Emer Kilbride, Anna Steinberg, Gianpiero L. Cavalleri, Brendan Davies, Ciaran Campbell
Publikováno v:
ANNALS OF NEUROLOGY
OBJECTIVE This study was undertaken to identify susceptibility loci for cluster headache and obtain insights into relevant disease pathways. METHODS We carried out a genome-wide association study, where 852 UK and 591 Swedish cluster headache cases w
Publikováno v:
Current Opinion in Neurology. 34:556-564
Purpose of review This review aims to summarise the present cerebellar ataxia, neuropathy, vestibular ataxia syndrome (CANVAS) literature, providing both clinical and genetic insights that might facilitate the timely clinical and genetic diagnosis of
Autor:
Amanda M. Pocratsky, Filipe Nascimento, M. Görkem Özyurt, Ian J. White, Roisin Sullivan, Benjamin J. O’Callaghan, Calvin C. Smith, Sunaina Surana, Marco Beato, Robert M. Brownstone
SummaryDystonia, a neurological disorder defined by abnormal postures and disorganised movements, is considered to be a neural circuit disorder with dysfunction arising within and between multiple brain regions. Given that spinal circuits constitute
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbed958980d930ea977960428d1ed893
https://doi.org/10.1101/2022.05.05.490750
https://doi.org/10.1101/2022.05.05.490750
Autor:
Mark R. Davis, Henry Houlden, Roisin Sullivan, Andrea Cortese, Sarah J. Beecroft, Richard Roxburgh, Carolin K. Scriba, Wai Yan Yau, Natalia Dominik, Teddy Y. Wu, Mary M. Reilly, Zoe Dyer, Gianina Ravenscroft, Miriam Rodrigues, Phillipa J. Lamont, Joshua S. Clayton, Ben Weisburd, David Chandler, Nigel G. Laing, Elizabeth B. Walker
Publikováno v:
Brain
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset, neurological disease. Recently, a pentanucleotide expansion in intron 2 of RFC1 was identified as the genetic cause of CANVAS. We screened an Asian-
Autor:
Viorica Chelban, Susana Carmona, Shoji Tsuji, Chris Turner, Roberto Cilia, Nicholas W. Wood, Zane Jaunmuktane, Wai Yan Yau, Hiroyuki Ishiura, Henry Houlden, Roisin Sullivan, Zhongbo Chen, Anna Zecchinelli, Duga Stefano, Malgorzata Murray, Jana Vandrovcova
Publikováno v:
Movement Disorders
Background The objective of this study was to determine the prevalence of the GGC‐repeat expansion in NOTCH2NLC in whites presenting with movement disorders. Methods We searched for the GGC‐repeat expansion in NOTCH2NLC using repeat‐primed poly
Autor:
Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, null Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden, Michael G. Hannah, Enrico Bugiardini, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Chiara Compagnoni, Alessandra Piccirilli, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen-Yang Lim, Farooq Shaikh, Annarita Scardamaglia, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Massimo Zollo, Gali Heimer, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S. Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Arianna Tucci, Chiara Fiorillo, Federico Rissotto, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Caterina Cuppari, Carmelo Romeo, Francesca Magrinelli, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Luca Zagaroli, Claudia Caloisi, Cecilia Fabiano, Gabriella Bottone, Giovanni Farello, Sandra Di Fabio, Makram Obeid, Sophia Bakhtadze, Nebal W. Saadi, Maha S. Zaki, Chahnez C. Triki, Majdi Kara, Vincenzo Belcastro, Nicola Specchio, Ehsan G. Karimiani, Ahmed M. Salih, Luca A. Ramenghi, Emanuele David, Riccardo Curró, Maria Laura Iezzi, Giulia Iapadre, Giuliana Nanni, Giovanna Scorrano, Maria F. Fiorile, Francesco Brancati, Giovanna Di Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elia, Gaetano Terrone, Francesca F. Operto, Mariella Valenzise, Ylenia Della Rocca, Francesca Zazzeroni, Edoardo Alesse, Filippo Manti, Serena Galosi, Francesca Nardecchia, Vincenzo Leuzzi, Erica Pironti, Greta Amore, Giorgia Ceravolo, Faisal Zafar, Ehsan Ullah, Erum Afzal, Iram Javed, Fatima Rahman, Muhammad Mehboob Ahmed, Pasquale Parisi, Paola Borgia, Giuseppe D. Mangano, Francesco Chiarelli, Queen Square Genomics
Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ad32ae43b493e4ed17edb86a09aa52
https://hdl.handle.net/20.500.12445/2759
https://hdl.handle.net/20.500.12445/2759