Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Yeow D"'
Autor:
Salluzzi, Marina, Blenkin, Nicole, Dueck, Ashley, Doram, Craig, Zhang, Qiao, Kenney, Carol, Ryckborst, Karla, Bohn, Shelly, Collier, Quentin, Taylor, Frances, Lethebe, B. Cord, Jambula, Anitha, Sage, Kayla, Toussaint, Lana, Save, Supryia, Lee, Jaclyn, Laham, N, Sultan, A.A., Deepak, A., Sitaram, A., Demchuk, Andrew M., Lockey, A., Micielli, A., Wadhwa, A., Arabambi, B., Graham, B., Bogiatzi, Chrysi, Doshi, Darshan, Chakraborty, D., Kim, Diana, Vasquez, D, Singh, D, Tse, Dominic, Harrison, E., Smith, E.E., Teleg, E., Klourfeld, E., Klein, G., Sebastian, I.A., Evans, J, Hegedus, J, Kromm, J, Lin, K, Ignacio, K, Ghavami, Kimia, Ismail, M., Moores, M., Panzini, M.A., Boyko, M., Almekhlafi, M.A., Newcommon, Nancy, Maraj, N., Imoukhuede, O., Volny, O., Stys, Peter, Couillard, Phillipe, Ojha, P., Eswaradass, P., Joundi, Raed, Singh, R., Asuncion, R.M., Muir, R.T., Dey, S., Mansoor, S., Wasyliw, S., Nagendra, S., Hu, Sherry, Althubait, S., Chen, S., Bal, S., Van Gaal, Stephen, Peters, Steven, Ray, Sucharita, Chaturvedi, S., Subramaniam, Suresh, Fu, Vivian, Villaluna, K., Maclean, G., King-Azote, P., Ma, C., Plecash, A., Murphy, C., Gorman, J., Wilson, L., Zhou, L., Benevente, O., Teal, P., Yip, S., Mann, S., Dewar, B., Demetroff, M., Shamloul, R., Beardshaw, R., Roberts, S., Blaquiere, D., Stotts, G., Shamy, M., Bereznyakova, O., Fahed, R., Alesefir, W., Lavoie, Suzy, Hache, A., Collard, K, Mackey, A., Gosselin-Lefebvre, S., Verreault, S., Beauchamp, B., Lambourn, L., Khaw, A., Mai, L., Sposato, L., Bres Bullrich, M., Azarpazhooh, R., Fridman, S., Kapoor, A., Southwell, A., Bardi, E., Fatakdawala, I., Kamra, M, Lopes, K., Popel, N., Norouzi, V., Liu, A., Liddy, A.M., Ghoari, B., Hawkes, C., Enriquez, C.A., Gladstone, D.J., Manosalva Alzate, H.A., Khosravani, H., Hopyan, J.J., Sivakumar, K., Son, M., Boulos, M.I., Hamind, M.A., Swartz, R.H., Murphy, R., Reiter, S., Fitzpatrick, T., Bhandari, V., Good, J., Penn, M., Naylor, M., Frost, S., Cayley, A., Akthar, F., Williams, J., Kalman, L., Crellin, L., Wiegner, R., Singh, R.S., Stewart, T., To, W., Singh, S., Pikula, A., Jaigobin, C., Carpani, F., Silver, F., Janssen, H., Schaafsma, J., del Campo, M., Alskaini, M., Rajendram, P., Fairall, P., Granfield, B., Crawford, D., Jabs, J., White, L., Sivakumar, L., Piquette, L., Nguyen, T., Nomani, A., Wagner, A., Alrohimi, A., Butt, A., D'Souza, A., Gajurel, B., Vekhande, C., Kamble, H., Kalashyan, H., Lloret, M., Benguzzi, M., Arsalan, N., Ishaque, N., Ashayeriahmadabad, R., Samiento, R., Hosseini, S., Kazi, S., Das, S., Sugumar, T., Selchen, D., Kostyrko, P., Muccilli, A., Saposnik, A.G., Vandervelde, C., Ratnayake, K., McMillan, S., Katsanos, A., Shoamanesh, A., Sahlas, D.J., Naidoo, V., Todorov, V., Toma, H., Brar, J., Lee, J., Horton, M., Shand, E., Weatherby, S., Jin, A., Durafourt, B., Jalini, S., Gardner, A., Tyson, C., Junk, E., Foster, K., Bolt, K., Sylvain, N., Maley, S., Urroz, L., Peeling, L., Kelly, M., Whelan, R., Cooley, R., Teitelbaum, J., Boutayeb, A., Moore, A., Cole, E., Waxman, L., Ben-Amor, N., Sanchez, R., Khalil, S., Nehme, A., Legault, C., Tampieri, D., Ehrensperger, E., Vieira, L., Cortes, M., Angle, M., Hannouche, M., Badawy, M., Werner, K., Wieszmuellner, S., Langer, A., Gisold, A., Zach, H., Rommer, P., Macher, S., Blechinger, S., Marik, W., Series, W., Baumgartinger, M., Krebs, S., Koski, J., Eirola, S., Ivanoff, T., Erakanto, A., Kupari, L., Sibolt, G., Panula, J., Tomppo, L., Tiainen, M., Ahlstrom, M., Martinez Majander, N., Suomalainen, O., Raty, S., Levi, C., Kerr, E., Allen, J., Kaauwai, L.P., Belevski, L., Russell, M., Ormond, S., Chew, A., Loiselle, A., Royan, A., Hughes, B., Garcia Esperon, C., Pepper, E., Miteff, F., He, J., Lycett, M., Min, M., Murray, N., Pavey, N., Starling de Barros, R., Gangadharan, S., Dunkerton, S., Waller, S., Canento Sanchez, T., Wellings, T., Edmonds, G., Whittaker, K.A., Ewing, M., Lee, P., Singkang, R., McDonald, A., Dos Santos, A., Shin, C., Jackson, D., Tsoleridis, J., Fisicchia, L., Parsons, N., Shenoy, N., Smith, S., Sharobeam, A., Balabanski, A., Park, A., Williams, C., Pavlin-Premri, D., Rodrigues, E., Alemseged, F., Ng, F., Zhao, H., Beharry, J., Ng, J.L., Williamson, J., Wong, J.Z.W., Li, K., Kwan, M.K., Valente, M., Yassi, N., Yogendrakumar, V., McNamara, B., Buchanan, C., McCarthy, C., Thomas, G., Stephens, K., Chung, M., Chung, M.F., Tang, M., Busch, T., Frost, T., Lee, R., Stuart, N., Pachani, N., Menon, A., Borojevic, B., Linton, C.M., Garcia, G., Callaly, E.P., Dewey, H., Liu, J., Chen, J., Wong, J., Nowak, K., To, K., Lizak, N.S., Bhalala, O., Park, P., Tan, P., Martins, R., Cody, R., Forbes, R., Chen, S.K., Ooi, S., Tu, S., Dang, Y.L., Ling, Z., Cranefield, J., Drew, R., Tan, A., Kurunawai, C., Harvey, J., Mahadevan, J.J., Cagi, L., Palanikumar, L., Chia, L.N., Goh, R., El-Masri, S., Urbi, B., Rapier, C., Berrill, H., McEvoy, H., Dunning, R., Kuriakose, S., Chad, T., Sapaen, V., Sabet, A., Shah, D., Yeow, D., Lilley, K., Ward, K., Mozhy Mahizhnan, M., Tan, M., Lynch, C., Coveney, S., Tobin, K., McCabe, J., Marnane, M., Murphy, S., Large, M., Moynihan, B., Boyle, K., Sanjuan, E., Sanchis, M., Boned, S., Pancorbo, O., Sala, V., Garcia, L., Garcia-Tornel, A., Juega, J., Pagola, J., Santana, K., Requena, M., Muchada, M., Olive, M., Lozano, P.J., Rubiera, M., Deck, M., Rodriguez, N., Gomez, B., Reyes Munoz, F.J., Gomez, A.S., Sanz, A.C., Garcia, E.C., Penacoba, G., Ramos, M.E., de Lera Alfonso, M., Feliu, A, Pardo, L., Ramirez, P., Murillo, A., Lopez Dominguez, D., Rodriguez, J., Terceno Izaga, M., Reina, M., Viturro, S.B., Bojaryn, U., Vera Monge, V.A., Silva Blas, Y., R Siew, R., Agustin, S J, Seet, C., Tianming, T., d'Emden, A., Murray, A., Welch, A., Hatherley, K., Day, N., Smith, W., MacRae, E., Mitchell, E.S., Mahmood, A., Elliot, J., Neilson, S., Biswas, V., Brown, C., Lewis, A., Ashton, A., Werring, D., Perry, R., Muhammad, R., Lee, Y.C., Black, A., Robinson, A., Williams, A., Banaras, A., Cahoy, C., Raingold, G., Marinescu, M., Atang, N., Bason, N., Francia, N., Obarey, S., Feerick, S., Joseph, J., Schulz, U., Irons, R., Benjamin, J., Quinn, L., Jhoots, M., Teal, R., Ford, G., Harston, G., Bains, H., Gbinigie, I., Mathieson, P., Sim, C.H., Hayter, E., Kennedy, K., Binnie, L., Priestley, N., Williams, R., Ghatala, R., Stratton, S., Blight, A., Zhang, L., Davies, A., Duffy, H., Roberts, J., Homer, J., Roberts, K., Dodd, K., Cawley, K., Martin, M., Leason, S., Cotgreave, S., Taylor, T., Nallasivan, A., Haider, S., Chakraborty, T., Webster, T., Gil, A., Martin, B., Joseph, B., Cabrera, C., Jose, D., Man, J., Aquino, J., Sebastian, S., Osterdahl, M., Kwan, M., Matthew, M., Ike, N., Bello, P., Wilding, P., Fuentes, R., Shah, R., Mashate, S., Patel, T., Nwanguma, U., Dave, V., Haber, A., Lee, A., O'Sullivan, A., Drumm, B., Dawson, A.C., Matar, T., Roberts, D., Taylor, E., Rounis, E., El-Masry, A., O'Hare, C., Kalladka, D., Jamil, S., Auger, S., Raha, O., Evans, M., Vonberg, F., Kalam, S., Ali Sheikh, A., Jenkins, I.H., George, J., Kwan, J., Blagojevic, J., Saeed, M., Haji-Coll, M., Tsuda, M., Sayed, M., Winterkron, N., Thanbirajah, N., Vittay, O., Karim, R., Smail, R.C., Gauhar, S., Elmamoun, S., Malani, S., Pralhad Kelavkar, S., Hiden, J., Ferdinand, P., Sanyal, R., Varquez, R., Smith, B., Okechukwu, C., Fox, E., Collins, E., Courtney, K., Tauro, S., Patterson, C., McShane, D., Roberts, G., McIImoyle, J., McGuire, K., Fearon, P., Gordon, P., Isaacs, K., Lucas, K., Smith, L., Dews, L., Bates, M., Lawrence, S., Heeley, S., Patel, V., Chin, Y.M., Sims, D., Littleton, E., Khaira, J., Nadar, K., Kieliszkowska, A., Sari, B., Domingos Belo, C., Smith, E., Manolo, E.Y., Aeron-Thomas, J., Doheny, M., Garcia Pardo, M., Recaman, M., Tibajia, M.C., Aissa, M., Mah, Y., Yu, T., Meenakshisundaram, S., Heller, S., Alsukhni, R., Williams, O., Farag, M., Benger, M., Engineer, A., Bayhonan, S., Conway, S., Bhalla, A., Nouvakis, D., Theochari, E., Boyle, F., Teo, J., King-Robson, J., Law, K.Y., Sztriha, L., McGovern, A., Day, D., Mitchell-Douglas, J., Francis, J., Iqbal, A., Punjabivaryani, P., Anonuevo Reyes, J., Anonuevo Reyes, M., Pauls, M., Buch, A., Hedstrom, A., Hutchinson, C., Kirkland, C., Newham, J., Wilkes, G., Fleming, L., Fleck, N., Franca, A., Chwal, B., Oldoni, C., Mantovani, G., Noll, G., Zanella, L., Soma, M., Secchi, T., Borelli, W., Rimoli, B.P., da Cunha Silva, G.H., Machado Galvao Mondin, L.A., Barbosa Cerantola, R., Imthon, A.K., Esaki, A.S., Camilo, M., Vincenzi, O.C., ds Cruz, R.R., Morillos, M.B., Riccioppa Rodrigues, G.G., Santos Ferreira, K., Pazini, A.M., Pena Pereira, M.A., de Albuquerque, A.L.A., Massote Fontanini, C.E., Matinez Rubio, C.F., dos Santos, D.T., Dias, F.A., Alves, F.F.A., Milani, C., Pegorer Santos, B., Winckler, F., De Souza, J.T., Bonome, L.A.M., Cury Silva, V.A., Teodoro, R.S., Modolo, G.P., Ferreira, N.C., Barbosa dos Santos, D.F., dos Santos Moreira, J.C., Cruz Guedes de Morais, A.B., Vieira, J., Mendes, G., de Queiroz, J.P., Coutts, Shelagh B *, Ankolekar, Sandeep, Appireddy, Ramana, Arenillas, Juan F, Assis, Zarina, Bailey, Peter, Barber, Philip A, Bazan, Rodrigo, Buck, Brian H, Butcher, Ken S, Camden, Marie-Christine, Campbell, Bruce C V, Casaubon, Leanne K, Catanese, Luciana, Chatterjee, Kausik, Choi, Philip M C, Clarke, Brian, Dowlatshahi, Dar, Ferrari, Julia, Field, Thalia S, Ganesh, Aravind, Ghia, Darshan, Goyal, Mayank, Greisenegger, Stefan, Halse, Omid, Horn, Mackenzie, Hunter, Gary, Imoukhuede, Oje, Kelly, Peter J, Kennedy, James, Kleinig, Timothy J, Krishnan, Kailash, Lima, Fabricio, Mandzia, Jennifer L, Marko, Martha, Martins, Sheila O, Medvedev, George, Menon, Bijoy K, Mishra, Sachin M, Molina, Carlos, Moussaddy, Aimen, Muir, Keith W, Parsons, Mark W, Penn, Andrew M W, Pille, Arthur, Pontes-Neto, Octávio M, Roffe, Christine, Serena, Joaquin, Simister, Robert, Singh, Nishita, Spratt, Neil, Strbian, Daniel, Tham, Carol H, Wiggam, M Ivan, Williams, David J, Willmot, Mark R, Wu, Teddy, Yu, Amy Y X, Zachariah, George, Zafar, Atif, Zerna, Charlotte, Hill, Michael D
Publikováno v:
In The Lancet 15-21 June 2024 403(10444):2597-2605
Reply to: Comment to "SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies".
Autor:
Rudaks LI; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Clinical Genetics Unit, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Yeow D; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Neurodegenerative Service, Prince of Wales Hospital, Randwick, New South Wales, Australia.; Neuroscience Research Australia, Randwick, New South Wales, Australia., Kumar KR; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Faculty of Medicine, St Vincent's Healthcare Campus, St Vincent's Hospital, Darlinghurst, New South Wales, Australia.; St Vincent's Healthcare Campus, Faculty of Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jun; Vol. 39 (6), pp. 1078.
Autor:
Rudaks LI; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Sydney, Australia. laura.rudaks@gmail.com.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia. laura.rudaks@gmail.com.; Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, Australia. laura.rudaks@gmail.com.; Clinical Genetics Unit, Royal North Shore Hospital, Sydney, Australia. laura.rudaks@gmail.com., Yeow D; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Sydney, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, Australia.; Neurodegenerative Service, Prince of Wales Hospital, Sydney, Australia.; Neuroscience Research Australia, Sydney, Australia., Ng K; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Neurology Department, Royal North Shore Hospital, Sydney, Australia., Deveson IW; Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, Australia.; Faculty of Medicine, University of New South Wales, Sydney, Australia., Kennerson ML; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Sydney, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; The Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, Australia., Kumar KR; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Sydney, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, Australia.; Faculty of Medicine, University of New South Wales, Sydney, Australia.; Faculty of Medicine, St Vincent's Healthcare Campus, UNSW Sydney, Sydney, Australia.
Publikováno v:
Cerebellum (London, England) [Cerebellum] 2024 Oct; Vol. 23 (5), pp. 2152-2168. Date of Electronic Publication: 2024 May 18.
Autor:
Coutts, Shelagh B, Ankolekar, Sandeep, Appireddy, Ramana, Arenillas, Juan F, Assis, Zarina, Bailey, Peter, Barber, Philip A, Bazan, Rodrigo, Buck, Brian H, Butcher, Ken S, Camden, Marie-Christine, Campbell, Bruce C V, Casaubon, Leanne K, Catanese, Luciana, Chatterjee, Kausik, Choi, Philip M C, Clarke, Brian, Dowlatshahi, Dar, Ferrari, Julia, Field, Thalia S, Ganesh, Aravind, Ghia, Darshan, Goyal, Mayank, Greisenegger, Stefan, Halse, Omid, Horn, Mackenzie, Hunter, Gary, Imoukhuede, Oje, Kelly, Peter J, Kennedy, James, Kenney, Carol, Kleinig, Timothy J, Krishnan, Kailash, Lima, Fabricio, Mandzia, Jennifer L, Marko, Martha, Martins, Sheila O, Medvedev, George, Menon, Bijoy K, Mishra, Sachin M, Molina, Carlos, Moussaddy, Aimen, Muir, Keith W, Parsons, Mark W, Penn, Andrew M W, Pille, Arthur, Pontes-Neto, Octávio M, Roffe, Christine, Serena, Joaquin, Simister, Robert, Singh, Nishita, Spratt, Neil, Strbian, Daniel, Tham, Carol H, Wiggam, M Ivan, Williams, David J, Willmot, Mark R, Wu, Teddy, Yu, Amy Y X, Zachariah, George, Zafar, Atif, Zerna, Charlotte, Hill, Michael D, Salluzzi, Marina, Blenkin, Nicole, Dueck, Ashley, Doram, Craig, Zhang, Qiao, Kenney, Carol, Ryckborst, Karla, Bohn, Shelly, Collier, Quentin, Taylor, Frances, Lethebe, B. Cord, Jambula, Anitha, Sage, Kayla, Toussaint, Lana, Save, Supryia, Lee, Jaclyn, Laham, N, Sultan, A.A., Deepak, A., Sitaram, A., Demchuk, Andrew M., Lockey, A., Micielli, A., Wadhwa, A., Arabambi, B., Graham, B., Bogiatzi, Chrysi, Doshi, Darshan, Chakraborty, D., Kim, Diana, Vasquez, D, Singh, D, Tse, Dominic, Harrison, E., Smith, E.E., Teleg, E., Klourfeld, E., Klein, G., Sebastian, I.A., Evans, J, Hegedus, J, Kromm, J, Lin, K, Ignacio, K, Ghavami, Kimia, Ismail, M., Moores, M., Panzini, M.A., Boyko, M., Almekhlafi, M.A., Newcommon, Nancy, Maraj, N., Imoukhuede, O., Volny, O., Stys, Peter, Couillard, Phillipe, Ojha, P., Eswaradass, P., Joundi, Raed, Singh, R., Asuncion, R.M., Muir, R.T., Dey, S., Mansoor, S., Wasyliw, S., Nagendra, S., Hu, Sherry, Althubait, S., Chen, S., Bal, S., Van Gaal, Stephen, Peters, Steven, Ray, Sucharita, Chaturvedi, S., Subramaniam, Suresh, Fu, Vivian, Villaluna, K., Maclean, G., King-Azote, P., Ma, C., Plecash, A., Murphy, C., Gorman, J., Wilson, L., Zhou, L., Benevente, O., Teal, P., Yip, S., Mann, S., Dewar, B., Demetroff, M., Shamloul, R., Beardshaw, R., Roberts, S., Blaquiere, D., Stotts, G., Shamy, M., Bereznyakova, O., Fahed, R., Alesefir, W., Lavoie, Suzy, Hache, A., Collard, K, Mackey, A., Gosselin-Lefebvre, S., Verreault, S., Beauchamp, B., Lambourn, L., Khaw, A., Mai, L., Sposato, L., Bres Bullrich, M., Azarpazhooh, R., Fridman, S., Kapoor, A., Southwell, A., Bardi, E., Fatakdawala, I., Kamra, M, Lopes, K., Popel, N., Norouzi, V., Liu, A., Liddy, A.M., Ghoari, B., Hawkes, C., Enriquez, C.A., Gladstone, D.J., Manosalva Alzate, H.A., Khosravani, H., Hopyan, J.J., Sivakumar, K., Son, M., Boulos, M.I., Hamind, M.A., Swartz, R.H., Murphy, R., Reiter, S., Fitzpatrick, T., Bhandari, V., Good, J., Penn, M., Naylor, M., Frost, S., Cayley, A., Akthar, F., Williams, J., Kalman, L., Crellin, L., Wiegner, R., Singh, R.S., Stewart, T., To, W., Singh, S., Pikula, A., Jaigobin, C., Carpani, F., Silver, F., Janssen, H., Schaafsma, J., del Campo, M., Alskaini, M., Rajendram, P., Fairall, P., Granfield, B., Crawford, D., Jabs, J., White, L., Sivakumar, L., Piquette, L., Nguyen, T., Nomani, A., Wagner, A., Alrohimi, A., Butt, A., D'Souza, A., Gajurel, B., Vekhande, C., Kamble, H., Kalashyan, H., Lloret, M., Benguzzi, M., Arsalan, N., Ishaque, N., Ashayeriahmadabad, R., Samiento, R., Hosseini, S., Kazi, S., Das, S., Sugumar, T., Selchen, D., Kostyrko, P., Muccilli, A., Saposnik, A.G., Vandervelde, C., Ratnayake, K., McMillan, S., Katsanos, A., Shoamanesh, A., Sahlas, D.J., Naidoo, V., Todorov, V., Toma, H., Brar, J., Lee, J., Horton, M., Chen, S., Shand, E., Weatherby, S., Jin, A., Durafourt, B., Jalini, S., Gardner, A., Tyson, C., Junk, E., Foster, K., Bolt, K., Sylvain, N., Maley, S., Urroz, L., Peeling, L., Kelly, M., Whelan, R., Cooley, R., Teitelbaum, J., Boutayeb, A., Moore, A., Cole, E., Waxman, L., Ben-Amor, N., Sanchez, R., Khalil, S., Nehme, A., Legault, C., Tampieri, D., Ehrensperger, E., Vieira, L., Cortes, M., Angle, M., Hannouche, M., Badawy, M., Werner, K., Wieszmuellner, S., Langer, A., Gisold, A., Zach, H., Rommer, P., Macher, S., Blechinger, S., Marik, W., Series, W., Baumgartinger, M., Krebs, S., Koski, J., Eirola, S., Ivanoff, T., Erakanto, A., Kupari, L., Sibolt, G., Panula, J., Tomppo, L., Tiainen, M., Ahlstrom, M., Martinez Majander, N., Suomalainen, O., Raty, S., Levi, C., Kerr, E., Allen, J., Kaauwai, L.P., Belevski, L., Russell, M., Ormond, S., Chew, A., Loiselle, A., Royan, A., Hughes, B., Garcia Esperon, C., Pepper, E., Miteff, F., He, J., Lycett, M., Min, M., Murray, N., Pavey, N., Starling de Barros, R., Gangadharan, S., Dunkerton, S., Waller, S., Canento Sanchez, T., Wellings, T., Edmonds, G., Whittaker, K.A., Ewing, M., Lee, P., Singkang, R., McDonald, A., Dos Santos, A., Shin, C., Jackson, D., Tsoleridis, J., Fisicchia, L., Parsons, N., Shenoy, N., Smith, S., Sharobeam, A., Balabanski, A., Park, A., Williams, C., Pavlin-Premri, D., Rodrigues, E., Alemseged, F., Ng, F., Zhao, H., Beharry, J., Ng, J.L., Williamson, J., Wong, J.Z.W., Li, K., Kwan, M.K., Valente, M., Yassi, N., Cooley, R., Yogendrakumar, V., McNamara, B., Buchanan, C., McCarthy, C., Thomas, G., Stephens, K., Chung, M., Chung, M.F., Tang, M., Busch, T., Frost, T., Lee, R., Stuart, N., Pachani, N., Menon, A., Borojevic, B., Linton, C.M., Garcia, G., Callaly, E.P., Dewey, H., Liu, J., Chen, J., Wong, J., Nowak, K., To, K., Lizak, N.S., Bhalala, O., Park, P., Tan, P., Martins, R., Cody, R., Forbes, R., Chen, S.K., Ooi, S., Tu, S., Dang, Y.L., Ling, Z., Cranefield, J., Drew, R., Tan, A., Kurunawai, C., Harvey, J., Mahadevan, J.J., Cagi, L., Palanikumar, L., Chia, L.N., Goh, R., El-Masri, S., Urbi, B., Rapier, C., Berrill, H., McEvoy, H., Dunning, R., Kuriakose, S., Chad, T., Sapaen, V., Sabet, A., Shah, D., Yeow, D., Lilley, K., Ward, K., Mozhy Mahizhnan, M., Tan, M., Lynch, C., Coveney, S., Tobin, K., McCabe, J., Marnane, M., Murphy, S., Large, M., Moynihan, B., Boyle, K., Sanjuan, E., 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Publikováno v:
The Lancet; June 2024, Vol. 403 Issue: 10444 p2597-2605, 9p
Autor:
Fellner A; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; The Neurogenetics Clinic, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel. Electronic address: avi.fellner@gmail.com., Wali GM; Neurospecialities Centre, Belgaum, India., Mahant N; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, Australia., Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute SLHD, Concord, NSW, Australia., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute SLHD, Concord, NSW, Australia., Narayanan RK; Northcott Neuroscience Laboratory, ANZAC Research Institute SLHD, Concord, NSW, Australia., Ng K; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Department of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, NSW, Australia., Davis RL; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney and Northern Sydney Local Health District, St. Leonards, NSW, Australia., Tchan MC; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia., Kotschet K; Clinical Neurosciences, St. Vincent's Hospital, Melbourne, Australia., Yeow D; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Department of Neurology, Concord Repatriation General Hospital, Sydney, NSW, Australia; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia; Neuroscience Research Australia, Sydney, NSW, Australia., Rudaks LI; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Department of Neurology, Concord Repatriation General Hospital, Sydney, NSW, Australia; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia; Department of Clinical Genetics, Royal North Shore Hospital, St. Leonards, NSW, Australia., Siow SF; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Department of Clinical Genetics, Royal North Shore Hospital, St. Leonards, NSW, Australia., Wali G; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney and Northern Sydney Local Health District, St. Leonards, NSW, Australia; Neuroscience Research Australia, Sydney, NSW, Australia., Yiannikas C; Department of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, NSW, Australia; Department of Neurology, Concord Repatriation General Hospital, Sydney, NSW, Australia., Hobbs M; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Copty J; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Geaghan M; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Darveniza P; Department of Neurology, St. Vincent's Hospital, Darlinghurst, NSW, Australia., Liang C; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Department of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, NSW, Australia; Neuroscience Research Australia, Sydney, NSW, Australia., Williams LJ; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, Australia., Chang FCF; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, Australia; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia., Morales-Briceño H; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, Australia; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia., Tisch S; Department of Neurology, St. Vincent's Hospital, Darlinghurst, NSW, Australia; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia., Hayes M; Department of Neurology, Concord Repatriation General Hospital, Sydney, NSW, Australia., Whyte S; Department of Neurology, Gosford Hospital, Gosford, Australia., Kummerfeld S; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute SLHD, Concord, NSW, Australia; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia., Cowley MJ; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia; Children's Cancer Institute, University of New South Wales, Sydney, Australia., Fung VSC; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, Australia; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia., Sue CM; Department of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, NSW, Australia; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney and Northern Sydney Local Health District, St. Leonards, NSW, Australia; Neuroscience Research Australia, Sydney, NSW, Australia; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia., Kumar KR; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; Department of Neurology, Concord Repatriation General Hospital, Sydney, NSW, Australia; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia. Electronic address: k.kumar@garvan.org.au.
Publikováno v:
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2024 Jul; Vol. 124, pp. 107010. Date of Electronic Publication: 2024 May 14.
Autor:
El-Wahsh S; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia., Fellner A; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; The Neurogenetics Clinic, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel., Hobbs M; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Copty J; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Deveson I; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Stevanovski I; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Stoll M; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia., Zhu D; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia., Narayanan RK; Northcott Neuroscience Laboratory, ANZAC Research Institute-Sydney Local Health District, Concord, New South Wales, Australia., Grosz B; Northcott Neuroscience Laboratory, ANZAC Research Institute-Sydney Local Health District, Concord, New South Wales, Australia., Worgan L; Clinical Genetics Service, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia., Cheong PL; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Concord Clinical School, Sydney Medical School, Faculty of Health and Medicine, University of Sydney, Sydney, New South Wales, Australia.; Royal Prince Alfred Hospital, New South Wales Health Pathology, Sydney, New South Wales, Australia.; Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia., Yeow D; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Concord Clinical School, Sydney Medical School, Faculty of Health and Medicine, University of Sydney, Sydney, New South Wales, Australia.; Neuroscience Research Australia, Sydney, New South Wales, Australia., Rudaks L; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Concord Clinical School, Sydney Medical School, Faculty of Health and Medicine, University of Sydney, Sydney, New South Wales, Australia., Hasan MM; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Hayes VM; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.; School of Health Systems & Public Health, University of Pretoria, Pretoria, South Africa.; Manchester Cancer Research Centre, University of Manchester, Manchester, UK., Kennerson M; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute-Sydney Local Health District, Concord, New South Wales, Australia.; Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia., Kumar KR; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Concord Clinical School, Sydney Medical School, Faculty of Health and Medicine, University of Sydney, Sydney, New South Wales, Australia.; Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia., Hayes M; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
Publikováno v:
Movement disorders clinical practice [Mov Disord Clin Pract] 2024 May; Vol. 11 (5), pp. 582-585. Date of Electronic Publication: 2024 Mar 18.
Autor:
Rudaks LI; Translational Neurogenomics Group, Concord Repatriation General Hospital, Concord, Australia.; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, Australia.; Concord Clinical School, Faculty of Medicine and Health, The University of Sydney, Concord, Australia.; Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, Australia.; Clinical Genetics Unit, Royal North Shore Hospital, St Leonards, Australia., Yeow D; Translational Neurogenomics Group, Concord Repatriation General Hospital, Concord, Australia.; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, Australia.; Concord Clinical School, Faculty of Medicine and Health, The University of Sydney, Concord, Australia.; Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, Australia.; Neurodegenerative Service, Prince of Wales Hospital, Randwick, Australia.; Neuroscience Research Australia, Randwick, Australia., Kumar KR; Translational Neurogenomics Group, Concord Repatriation General Hospital, Concord, Australia.; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, Australia.; Concord Clinical School, Faculty of Medicine and Health, The University of Sydney, Concord, Australia.; Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, Australia.; St Vincent's Healthcare Campus, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Darlinghurst, Australia.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Mar; Vol. 39 (3), pp. 457-461.
Autor:
Rudaks LI; Translational Neurogenomics Group, Concord Repatriation General Hospital, Hospital Rd, Concord, NSW, 2139, Australia; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Hospital Rd, Concord, NSW, 2139, Australia; The University of Sydney, Camperdown, NSW, 2050, Australia; Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst, NSW, 2010, Australia; Clinical Genetics Unit, Royal North Shore Hospital, Reserve Rd, St Leonards, NSW, 2065, Australia. Electronic address: laura.rudaks@gmail.com., Yeow D; Translational Neurogenomics Group, Concord Repatriation General Hospital, Hospital Rd, Concord, NSW, 2139, Australia; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Hospital Rd, Concord, NSW, 2139, Australia; The University of Sydney, Camperdown, NSW, 2050, Australia; Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst, NSW, 2010, Australia; Neurodegenerative Service, Prince of Wales Hospital, Randwick, NSW, 2031, Australia; Neuroscience Research Australia, Randwick, NSW, 2031, Australia. Electronic address: d.yeow@neura.edu.au., Kumar KR; Translational Neurogenomics Group, Concord Repatriation General Hospital, Hospital Rd, Concord, NSW, 2139, Australia; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Hospital Rd, Concord, NSW, 2139, Australia; The University of Sydney, Camperdown, NSW, 2050, Australia; Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst, NSW, 2010, Australia; St Vincent's Healthcare Campus, Faculty of Medicine, UNSW Sydney, Level 5, De Lacy Building, St Vincent's Hospital, Darlinghurst, NSW, 2010, Australia. Electronic address: kkum4618@uni.sydney.edu.au.
Publikováno v:
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2024 Feb; Vol. 119, pp. 105969. Date of Electronic Publication: 2023 Dec 21.
Autor:
Yeow D; Translational Neurogenomics Group, Neurology Department & Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia.; Concord Clinical School, Sydney Medical School, Faculty of Health & Medicine, University of Sydney, Concord, NSW, Australia.; Rare Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Department of Neurology, Prince of Wales Hospital, Randwick, NSW, Australia.; Neuroscience Research Australia, Randwick, NSW, Australia., Rudaks LI; Translational Neurogenomics Group, Neurology Department & Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia.; Concord Clinical School, Sydney Medical School, Faculty of Health & Medicine, University of Sydney, Concord, NSW, Australia.; Rare Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Siow SF; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW, Australia., Davis RL; Rare Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Neurogenetics Research Group, Kolling Institute, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney and Northern Sydney Local Health District, St Leonards, NSW, Australia., Kumar KR; Translational Neurogenomics Group, Neurology Department & Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia.; Concord Clinical School, Sydney Medical School, Faculty of Health & Medicine, University of Sydney, Concord, NSW, Australia.; Rare Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia.
Publikováno v:
Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2024 Jan 08; Vol. 14, pp. 2. Date of Electronic Publication: 2024 Jan 08 (Print Publication: 2024).
Autor:
Siow SF; Sydney Medical School, University of Sydney, Camperdown 2050, Australia.; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards 2065, Australia., Yeow D; Sydney Medical School, University of Sydney, Camperdown 2050, Australia.; Neuroscience Research Australia, University of New South Wales, Randwick 2031, Australia.; Rare Disease Program, Garvan Institute of Medical Research, Darlinghurst 2010, Australia.; Translational Neurogenomics Group, Molecular Medicine Laboratory and Department of Neurology, Concord Hospital, Concord 2139, Australia.; Neurodegenerative Service, Prince of Wales Hospital, Randwick 2031, Australia., Rudaks LI; Sydney Medical School, University of Sydney, Camperdown 2050, Australia.; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards 2065, Australia.; Rare Disease Program, Garvan Institute of Medical Research, Darlinghurst 2010, Australia.; Translational Neurogenomics Group, Molecular Medicine Laboratory and Department of Neurology, Concord Hospital, Concord 2139, Australia., Jia F; Sydney Medical School, University of Sydney, Camperdown 2050, Australia., Wali G; Sydney Medical School, University of Sydney, Camperdown 2050, Australia.; Neuroscience Research Australia, University of New South Wales, Randwick 2031, Australia., Sue CM; Sydney Medical School, University of Sydney, Camperdown 2050, Australia.; Neuroscience Research Australia, University of New South Wales, Randwick 2031, Australia.; Neurodegenerative Service, Prince of Wales Hospital, Randwick 2031, Australia.; School of Clinical Medicine, UNSW Medicine & Health, University of New South Wales, Kensington 2052, Australia., Kumar KR; Sydney Medical School, University of Sydney, Camperdown 2050, Australia.; Rare Disease Program, Garvan Institute of Medical Research, Darlinghurst 2010, Australia.; Translational Neurogenomics Group, Molecular Medicine Laboratory and Department of Neurology, Concord Hospital, Concord 2139, Australia.; School of Clinical Medicine, UNSW Medicine & Health, University of New South Wales, Kensington 2052, Australia.
Publikováno v:
Genes [Genes (Basel)] 2023 Sep 03; Vol. 14 (9). Date of Electronic Publication: 2023 Sep 03.