13 results on '"Lee-Archer, Matthew"'
Search Results
2. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
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Rafehi, Haloom, primary, Read, Justin, additional, Szmulewicz, David J., additional, Davies, Kayli C., additional, Snell, Penny, additional, Fearnley, Liam G., additional, Scott, Liam, additional, Thomsen, Mirja, additional, Gillies, Greta, additional, Pope, Kate, additional, Bennett, Mark F., additional, Munro, Jacob E., additional, Ngo, Kathie J., additional, Chen, Luke, additional, Wallis, Mathew J., additional, Butler, Ernest G., additional, Kumar, Kishore R., additional, Wu, Kathy HC., additional, Tomlinson, Susan E., additional, Tisch, Stephen, additional, Malhotra, Abhishek, additional, Lee-Archer, Matthew, additional, Dolzhenko, Egor, additional, Eberle, Michael A., additional, Roberts, Leslie J., additional, Fogel, Brent L., additional, Brüggemann, Norbert, additional, Lohmann, Katja, additional, Delatycki, Martin B., additional, Bahlo, Melanie, additional, and Lockhart, Paul J., additional
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- 2023
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3. Early anticoagulation in patients with stroke and atrial fibrillation is associated with fewer ischaemic lesions at 1 month: the ATTUNE study
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Sharobeam, Angelos, primary, Lin, Longting, additional, Lam, Christina, additional, Garcia-Esperon, Carlos, additional, Gawarikar, Yash, additional, Patel, Ronak, additional, Lee-Archer, Matthew, additional, Wong, Andrew, additional, Roizman, Michael, additional, Gilligan, Amanda, additional, Lee, Andrew, additional, Tan, Kee Meng, additional, Day, Susan, additional, Levi, Christopher, additional, Davis, Stephen M, additional, Parsons, Mark, additional, and Yan, Bernard, additional
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- 2023
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4. Sporadic Creutzfeldt-Jakob disease in Northern Tasmania
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Rajalingam, Priyanka, primary, de Souza, Aaron, additional, Lee-Archer, Matthew, additional, and Dhakal, Mahesh, additional
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- 2023
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5. Adverse clinical outcomes after dabigatran reversal with idarucizumab to facilitate acute stroke thrombolysis
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Ng, Felix C., Bice, James, Rodda, Anne, Lee-Archer, Matthew, and Crompton, Douglas E.
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- 2017
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6. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
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Rafehi, Haloom, Read, Justin, Szmulewicz, David J., Davies, Kayli C., Snell, Penny, Fearnley, Liam G., Scott, Liam, Thomsen, Mirja, Gillies, Greta, Pope, Kate, Bennett, Mark F., Munro, Jacob E., Ngo, Kathie J., Chen, Luke, Wallis, Mathew J., Butler, Ernest G., Kumar, Kishore R., Wu, Kathy HC., Tomlinson, Susan E., Tisch, Stephen, Malhotra, Abhishek, Lee-Archer, Matthew, Dolzhenko, Egor, Eberle, Michael A., Roberts, Leslie J., Fogel, Brent L., Brüggemann, Norbert, Lohmann, Katja, Delatycki, Martin B., Bahlo, Melanie, and Lockhart, Paul J.
- Subjects
Article - Abstract
Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) repeat expansion in fibroblast growth factor 14 (FGF14). Genetic analysis of 95 Australian individuals with adult-onset ataxia identified four (4.2%) with (GAA)(>300) and a further nine individuals with (GAA)(>250). PCR and long-read sequence analysis revealed these were pure (GAA) repeats. In comparison, no control subjects had (GAA)(>300) and only 2/311 control individuals (0.6%) had a pure (GAA)(>250). In a German validation cohort, 9/104 (8.7%) of affected individuals had (GAA)(>335) and a further six had (GAA)(>250), whereas 10/190 (5.3%) control subjects had (GAA)(>250) but none were (GAA)(>335). The combined data suggest (GAA)(>335) are disease causing and fully penetrant (p = 6.0 × 10(−8), OR = 72 [95% CI = 4.3–1,227]), while (GAA)(>250) is likely pathogenic with reduced penetrance. Affected individuals had an adult-onset, slowly progressive cerebellar ataxia with variable features including vestibular impairment, hyper-reflexia, and autonomic dysfunction. A negative correlation between age at onset and repeat length was observed (R(2) = 0.44, p = 0.00045, slope = −0.12) and identification of a shared haplotype in a minority of individuals suggests that the expansion can be inherited or generated de novo during meiotic division. This study demonstrates the power of genome sequencing and advanced bioinformatic tools to identify novel repeat expansions via model-free, genome-wide analysis and identifies SCA50/ATX-FGF14 as a frequent cause of adult-onset ataxia.
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- 2022
7. A novel intronic GAA repeat expansion inFGF14causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)
- Author
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Rafehi, Haloom, primary, Read, Justin, additional, Szmulewicz, David J, additional, Davies, Kayli C., additional, Snell, Penny, additional, Fearnley, Liam G, additional, Scott, Liam, additional, Thomsen, Mirja, additional, Gillies, Greta, additional, Pope, Kate, additional, Bennett, Mark F, additional, Munro, Jacob E, additional, Ngo, Kathie J., additional, Chen, Luke, additional, Wallis, Mathew J, additional, Butler, Ernest G, additional, Kumar, Kishore R, additional, Wu, Kathy HC, additional, Tomlinson, Susan E, additional, Tisch, Stephen, additional, Malhotra, Abhishek, additional, Lee-Archer, Matthew, additional, Dolzhenko, Egor, additional, Eberle, Michael A., additional, Roberts, Leslie J, additional, Fogel, Brent L, additional, Brüggemann, Norbert, additional, Lohmann, Katja, additional, Delatycki, Martin B., additional, Bahlo, Melanie, additional, and Lockhart, Paul J, additional
- Published
- 2022
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8. Prevalence of chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy in two regions of Australia
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Park, Susanna B., primary, Li, Tiffany, additional, Kiernan, Matthew C., additional, Garg, Nidhi, additional, Wilson, Ian, additional, White, Richard, additional, Boggild, Michael, additional, McNabb, Andrew, additional, Lee‐Archer, Matthew, additional, and Taylor, Bruce V., additional
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- 2022
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9. Abstract 10: Recurrent Ischemic Infarcts And Hemorrhages On MRI Within 30 Days Of Anticoagulation Commencement For Ischemic Stroke: Preliminary Results From The Attune Registry
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Sharobeam, Angelos, primary, Lam, Christina, additional, Garcia-Esperon, Carlos, additional, Krause, Martin, additional, Wong, Andrew A, additional, Lee, Andrew, additional, Shah, Darshan, additional, Lee-Archer, Matthew, additional, Tan, Meng, additional, Gawarikar, Yash, additional, Gilligan, Amanda, additional, Parsons, Mark, additional, and Yan, Bernard, additional
- Published
- 2022
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10. Reversal strategies for vitamin K antagonists in acute intracerebral hemorrhage
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Parry-Jones, Adrian R., Di Napoli, Mario, Goldstein, Joshua N., Schreuder, Floris H. B. M., Tetri, Sami, Tatlisumak, Turgut, Yan, Bernard, van Nieuwenhuizen, Koen M., Dequatre-Ponchelle, Nelly, Lee-Archer, Matthew, Horstmann, Solveig, Wilson, Duncan, Pomero, Fulvio, Masotti, Luca, Lerpiniere, Christine, Godoy, Daniel Agustin, Cohen, Abigail S., Houben, Rik, Al-Shahi Salman, Rustam, Pennati, Paolo, Fenoglio, Luigi, Werring, David, Veltkamp, Roland, Wood, Edith, Dewey, Helen M., Cordonnier, Charlotte, Klijn, Catharina J. M., Meligeni, Fabrizio, Davis, Stephen M., Huhtakangas, Juha, Staals, Julie, Rosand, Jonathan, and Meretoja, Atte
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- 2015
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11. Extending thrombolysis to 4·5–9 h and wake-up stroke using perfusion imaging: a systematic review and meta-analysis of individual patient data
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Campbell, Bruce C V, primary, Ma, Henry, additional, Ringleb, Peter A, additional, Parsons, Mark W, additional, Churilov, Leonid, additional, Bendszus, Martin, additional, Levi, Christopher R, additional, Hsu, Chung, additional, Kleinig, Timothy J, additional, Fatar, Marc, additional, Leys, Didier, additional, Molina, Carlos, additional, Wijeratne, Tissa, additional, Curtze, Sami, additional, Dewey, Helen M, additional, Barber, P Alan, additional, Butcher, Kenneth S, additional, De Silva, Deidre A, additional, Bladin, Christopher F, additional, Yassi, Nawaf, additional, Pfaff, Johannes A R, additional, Sharma, Gagan, additional, Bivard, Andrew, additional, Desmond, Patricia M, additional, Schwab, Stefan, additional, Schellinger, Peter D, additional, Yan, Bernard, additional, Mitchell, Peter J, additional, Serena, Joaquín, additional, Toni, Danilo, additional, Thijs, Vincent, additional, Hacke, Werner, additional, Davis, Stephen M, additional, Donnan, Geoffrey A, additional, Donnan, Geoffrey A., additional, Davis, Stephen M., additional, Campbell, Bruce C.V., additional, Parsons, Mark W., additional, Mitchell, Peter J., additional, Desmond, Patricia M., additional, Oxley, Thomas, additional, Wu, Teddy Y., additional, Shah, Darshan, additional, Zhao, Henry, additional, Rodrigues, Edrich, additional, Salvaris, Patrick, additional, Alemseged, Fana, additional, Ng, Felix, additional, Williams, Cameron, additional, Ng, Jo-Lyn, additional, Tu, Hans T-H., additional, McDonald, Amy, additional, Jackson, David, additional, Tsoleridis, Jessica, additional, McCoy, Rachael, additional, Pesavento, Lauren, additional, Weir, Louise, additional, Kleinig, Timothy J., additional, Patel, S., additional, Harvey, J., additional, Mahadevan, J., additional, Cheong, E., additional, Balabanski, Anna, additional, Waters, Michael, additional, Drew, Roy, additional, Cranefield, Jennifer, additional, Mackey, Elizabeth, additional, Celestino, Sherisse, additional, Low, Essie, additional, Dewey, Helen M., additional, Bladin, Christopher F., additional, Loh, Poh Sien, additional, Choi, Philip M., additional, Coote, Skye, additional, Frost, Tanya, additional, Hogan, K., additional, Ding, C., additional, McModie, S., additional, Zhang, W.W., additional, Kyndt, Christopher, additional, Moore, A., additional, Ross, Z., additional, Liu, J., additional, Miteff, Ferdinand, additional, Levi, Christopher R., additional, Ang, Timothy, additional, Spratt, Neil, additional, Garcia-Esperon, Carlos, additional, Kaauwai, Lara, additional, Phan, Thanh G., additional, Ly, John, additional, Singhal, Shaloo, additional, Clissold, Benjamin, additional, Wong, Kitty, additional, Krause, Martin, additional, Day, Susan, additional, Sturm, Jonathan, additional, O'Brian, Bill, additional, Grimley, Rohan, additional, Simpson, Marion, additional, Lee-Archer, Matthew, additional, Brodtmann, Amy, additional, Coulton, Bronwyn, additional, Young, Dennis, additional, Wong, Andrew A., additional, Muller, Claire, additional, Field, Deborah K., additional, Vallat, W., additional, Maxwell, Vanessa, additional, Bailey, Peter, additional, Sabet, Arman, additional, Mishra, Sachin, additional, Tan, Meng, additional, George, K., additional, Barber, P. Alan, additional, Zhao, L., additional, Meretoja, Atte, additional, Tatlisumak, Turgut, additional, Sibolt, G., additional, Tiainen, M., additional, Koivu, M., additional, Aarnio, K., additional, Virta, J., additional, Kasari, O., additional, Eirola, S., additional, Sun, M.C., additional, Chen, T.C., additional, Chuang, C.S., additional, Chen, Y.Y., additional, Lin, C.M., additional, Ho, S.C., additional, Hsiao, P.M., additional, Tsai, C.H., additional, Huang, W.S., additional, Yang, Y.W., additional, Huang, H.Y., additional, Wang, W.C., additional, Liu, C.H., additional, Lu, M.K., additional, Lu, C.H., additional, Kung, W.L., additional, Jiang, S.K., additional, Wu, Y.H., additional, Huang, S.C., additional, Tseng, C.H., additional, Tseng, L.T., additional, Guo, Y.C., additional, Lin, D., additional, Hsu, C.T., additional, Kuan, C.W., additional, Hsu, J.P., additional, Tsai, H.T., additional, Suzuki, M., additional, Sun, Y., additional, Chen, H.F., additional, Lu, C.J., additional, Lin, C.H., additional, Huang, C.C., additional, Chu, H.J., additional, Lee, C.Y., additional, Chang, W.H., additional, Lo, Y.C., additional, Hsu, Y.T., additional, Chen, C.H., additional, Sung, P.S., additional, Ysai, C.L., additional, Jeng, J.S., additional, Tang, S.C., additional, Tsai, L.K., additional, Yeh, S.J., additional, Lee, Y.C., additional, Wang, Y.T., additional, Chung, T.C., additional, Hu, C.J., additional, Chan, L., additional, Chiou, Y.W., additional, Lien, L.M., additional, Yeh, H.L., additional, Yeh, J.H., additional, Chen, W.H., additional, Lau, C.L., additional, Chang, A., additional, Lee, I.Y., additional, Huang, M.Y., additional, Lee, J.T., additional, Peng, G.S., additional, Lim, J.C., additional, Hsu, Y.D., additional, Lin, C.C., additional, Cheng, C.A., additional, Yen, C.H., additional, Yang, F.C., additional, Hsu, C.H., additional, Sung, Y.F., additional, Tsai, C.K., additional, Tsai, C.L., additional, Lee, A., additional, Hankey, Graeme, additional, Blacker, David, additional, Gerraty, Richard, additional, Chen, C-I., additional, Hsu, C-S., additional, Cowley, Elise, additional, Sallaberger, Michele, additional, Snow, Barry, additional, Kolbe, John, additional, Stark, Richard, additional, King, John, additional, Macdonnell, Richard, additional, Attia, John, additional, D'Este, Catherine, additional, Bernhardt, Julie, additional, Carey, Leeanne, additional, Cadilhac, Dominique, additional, Anderson, Craig, additional, Howells, David, additional, Barber, A., additional, Connelly, Alan, additional, Macleod, Malcolm, additional, O'Collins, Victoria, additional, Wilson, W., additional, Macaulay, L., additional, Bluhmki, Erich, additional, Eschenfelder, Christoph, additional, Ringleb, Peter, additional, Schellinger, Peter, additional, Wahlgren, Nils, additional, Wardlaw, Joanna, additional, Oppenheim, Catherine, additional, Lees, Kennedy R., additional, Kaste, Markku, additional, von Kummer, Rüdiger, additional, Chatellier, Gilles, additional, Laage, Rico, additional, Nuñez, Xavier, additional, Ehrenkrona, Christina, additional, Svenson, Ann-Sofie, additional, Cove, Lynda, additional, Niederkorn, Kurt, additional, Gruber, Franz, additional, Kapeller, Peter, additional, Mikulik, Robert, additional, Mas, Jean-Louis, additional, Berrouschot, Jörg, additional, Sobesky, Jan, additional, Köhrmann, Martin, additional, Steiner, Thorsten, additional, Kessler, Christof, additional, Dziewas, Rainer, additional, Poli, Sven, additional, Althaus-Knaurer, Katharina, additional, Bovi, Paolo, additional, Rodriguez, Alain L., additional, Arenillas, Juan F., additional, Muir, Keith, additional, Veltkamp, Roland, additional, Dixit, Anand, additional, Muddegowda, Girish, additional, Kala, Lalit, additional, De Silva, Deidre A., additional, Butcher, Kenneth S., additional, Byrnes, G., additional, Peeters, Andre, additional, Chalk, J.B., additional, Fink, John N., additional, Kimber, Thomas E., additional, Schultz, David, additional, Hand, Peter J., additional, Frayne, Judith, additional, Tress, Brian M., additional, McNeil, John, additional, Burns, R., additional, Johnston, C., additional, and Williams, M., additional
- Published
- 2019
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- View/download PDF
12. Reversal strategies for vitamin K antagonists in acute intracerebral hemorrhage
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Opleiding Neurologie, Parry-Jones, Adrian R., Di Napoli, Mario, Goldstein, Joshua N., Schreuder, Floris H B M, Tetri, Sami, Tatlisumak, Turgut, Yan, Bernard, Van Nieuwenhuizen, Koen M., Dequatre-Ponchelle, Nelly, Lee-Archer, Matthew, Horstmann, Solveig, Wilson, Duncan, Pomero, Fulvio, Masotti, Luca, Lerpiniere, Christine, Godoy, Daniel Agustin, Cohen, Abigail S., Houben, Rik, Al-Shahi Salman, Rustam, Pennati, Paolo, Fenoglio, Luigi, Werring, David, Veltkamp, Roland, Wood, Edith, Dewey, Helen M., Cordonnier, Charlotte, Klijn, Catharina J M, Meligeni, Fabrizio, Davis, Stephen M., Huhtakangas, Juha, Staals, Julie, Rosand, Jonathan, Meretoja, Atte, Opleiding Neurologie, Parry-Jones, Adrian R., Di Napoli, Mario, Goldstein, Joshua N., Schreuder, Floris H B M, Tetri, Sami, Tatlisumak, Turgut, Yan, Bernard, Van Nieuwenhuizen, Koen M., Dequatre-Ponchelle, Nelly, Lee-Archer, Matthew, Horstmann, Solveig, Wilson, Duncan, Pomero, Fulvio, Masotti, Luca, Lerpiniere, Christine, Godoy, Daniel Agustin, Cohen, Abigail S., Houben, Rik, Al-Shahi Salman, Rustam, Pennati, Paolo, Fenoglio, Luigi, Werring, David, Veltkamp, Roland, Wood, Edith, Dewey, Helen M., Cordonnier, Charlotte, Klijn, Catharina J M, Meligeni, Fabrizio, Davis, Stephen M., Huhtakangas, Juha, Staals, Julie, Rosand, Jonathan, and Meretoja, Atte
- Published
- 2015
13. Early anticoagulation in patients with stroke and atrial fibrillation is associated with fewer ischaemic lesions at 1 month: the ATTUNE study.
- Author
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Sharobeam A, Lin L, Lam C, Garcia-Esperon C, Gawarikar Y, Patel R, Lee-Archer M, Wong A, Roizman M, Gilligan A, Lee A, Tan KM, Day S, Levi C, Davis SM, Parsons M, and Yan B
- Subjects
- Aged, Female, Humans, Male, Anticoagulants adverse effects, Australia, Hemorrhage chemically induced, Hemorrhage drug therapy, Prospective Studies, Atrial Fibrillation complications, Atrial Fibrillation diagnosis, Atrial Fibrillation drug therapy, Brain Ischemia diagnostic imaging, Brain Ischemia drug therapy, Ischemic Attack, Transient diagnostic imaging, Ischemic Attack, Transient drug therapy, Ischemic Stroke diagnostic imaging, Ischemic Stroke drug therapy, Ischemic Stroke etiology, Stroke diagnostic imaging, Stroke drug therapy
- Abstract
Background: The optimal time to commence anticoagulation in patients with atrial fibrillation (AF) after ischaemic stroke or transient ischaemic attack (TIA) is unclear, with guidelines differing in recommendations. A limitation of previous studies is the focus on clinically overt stroke, rather than radiologically obvious diffusion-weighted imaging ischaemic lesions. We aimed to quantify silent ischaemic lesions and haemorrhages on MRI at 1 month in patients commenced on early (<4 days) vs late (≥4 days) anticoagulation. We hypothesised that there would be fewer ischaemic lesions and more haemorrhages in the early anticoagulant group at 1-month MRI., Methods: A prospective multicentre, observational cohort study was performed at 11 Australian stroke centres. Clinical and MRI data were collected at baseline and follow-up, with blinded imaging assessment performed by two authors. Timing of commencement of anticoagulation was at the discretion of the treating stroke physician., Results: We recruited 276 patients of whom 208 met the eligibility criteria. The average age was 74.2 years (SD±10.63), and 79 (38%) patients were female. Median National Institute of Health Stroke Scale score was 5 (IQR 1-12). Median baseline ischaemic lesion volume was 5 mL (IQR 2-17). There were a greater number of new ischaemic lesions on follow-up MRI in patients commenced on anticoagulation ≥4 days after index event (17% vs 8%, p=0.04), but no difference in haemorrhage rates (22% vs 32%, p=0.10). Baseline ischaemic lesion volume of ≤5 mL was less likely to have a new haemorrhage at 1 month (p=0.02). There was no difference in haemorrhage rates in patients with an initial ischaemic lesion volume of >5 mL, regardless of anticoagulation timing., Conclusion: Commencing anticoagulation <4 days after stroke or TIA is associated with fewer ischaemic lesions at 1 month in AF patients. There is no increased rate of haemorrhage with early anticoagulation. These results suggest that early anticoagulation after mild-to-moderate acute ischaemic stroke associated with AF might be safe, but randomised controlled studies are needed to inform clinical practice., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2024
- Full Text
- View/download PDF
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