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Authors: van Rheenen, Wouter | Shatunov, Aleksey | Yang, Jian | de Visser, Marianne | Goris, An | Weber, Markus | Shaw, Christopher E | Smith, Bradley N | Pansarasa, Orietta | Cereda, Cristina | Del Bo, Roberto | Comi, Giacomo P | D'Alfonso, Sandra | Fogh, Isabella | Bertolin, Cinzia | Sorarù, Gianni | Mazzini, Letizia | Pensato, Viviana | Gellera, Cinzia | Tiloca, Cinzia | Ratti, Antonia | Calvo, Andrea | Moglia, Cristina | Brunetti, Maura | van Doormaal, Perry T. C | Arcuti, Simona | Capozzo, Rosa | Zecca, Chiara | Lunetta, Christian | Penco, Silvana | Riva, Nilo | Padovani, Alessandro | Filosto, Massimiliano | Muller, Bernard | Stuit, Robbert Jan | Tazelaar, Gijs H. P | Blair, Ian | Zhang, Katharine | McCann, Emily P | Fifita, Jennifer A | Nicholson, Garth A | Rowe, Dominic B | Pamphlett, Roger | Kiernan, Matthew C | Grosskreutz, Julian | Witte, Otto W | Koppers, Max | Ringer, Thomas | Prell, Tino | Stubendorff, Beatrice | Kurth, Ingo | Hübner, Christian A | Leigh, P. Nigel | Casale, Federico | Chio, Adrian | Beghi, Ettore | Pupillo, Elisabetta | Blokhuis, Anna M | Tortelli, Rosanna | Logroscino, Giancarlo | Powell, John | Ludolph, Albert C | Weishaupt, Jochen H | Robberecht, Wim | Van Damme, Philip | Franke, Lude | Pers, Tune H | Brown, Robert H | Sproviero, William | Glass, Jonathan D | Landers, John E | Hardiman, Orla | Andersen, Peter M | Corcia, Philippe | Vourc'h, Patrick | Silani, Vincenzo | Wray, Naomi R | Visscher, Peter M | de Bakker, Paul I. W | Jones, Ashley R | van Es, Michael A | Pasterkamp, R. Jeroen | Lewis, Cathryn M | Breen, Gerome | Al-Chalabi, Ammar | van den Berg, Leonard H | Veldink, Jan H | Kenna, Kevin P | van Eijk, Kristel R | Dekker, Annelot M | Harschnitz, Oliver | Schellevis, Raymond D | Brands, William J | Medic, Jelena | Menelaou, Androniki | Vajda, Alice | Ticozzi, Nicola | Lin, Kuang | Rogelj, Boris | Vrabec, Katarina | McLaughlin, Russell L | Ravnik-Glavač, Metka | Koritnik, Blaž | Zidar, Janez | Leonardis, Lea | Grošelj, Leja Dolenc | Millecamps, Stéphanie | Salachas, François | Meininger, Vincent | de Carvalho, Mamede | Pinto, Susana | Diekstra, Frank P | Mora, Jesus S | Rojas-García, Ricardo | Polak, Meraida | Chandran, Siddharthan | Colville, Shuna | Swingler, Robert | Morrison, Karen E | Shaw, Pamela J | Hardy, John | Orrell, Richard W | Pulit, Sara L | Pittman, Alan | Sidle, Katie | Fratta, Pietro | Malaspina, Andrea | Topp, Simon | Petri, Susanne | Abdulla, Susanne | Drepper, Carsten | Sendtner, Michael | Meyer, Thomas | van der Spek, Rick A. A | Ophoff, Roel A | Staats, Kim A | Wiedau-Pazos, Martina | Lomen-Hoerth, Catherine | Van Deerlin, Vivianna M | Trojanowski, John Q | Elman, Lauren | McCluskey, Leo | Basak, A. Nazli | Tunca, Ceren | Võsa, Urmo | Hamzeiy, Hamid | Parman, Yesim | Meitinger, Thomas | Lichtner, Peter | Radivojkov-Blagojevic, Milena | Andres, Christian R | Maurel, Cindy | Bensimon, Gilbert | Landwehrmeyer, Bernhard | Brice, Alexis | de Jong, Simone | Payan, Christine A. M | Saker-Delye, Safaa | Dürr, Alexandra | Wood, Nicholas W | Tittmann, Lukas | Lieb, Wolfgang | Franke, Andre | Rietschel, Marcella | Cichon, Sven | Nöthen, Markus M | Robinson, Matthew R | Amouyel, Philippe | Tzourio, Christophe | Dartigues, Jean-François | Uitterlinden, Andre G | Rivadeneira, Fernando | Estrada, Karol | Hofman, Albert | Curtis, Charles | Blauw, Hylke M | van der Kooi, Anneke J
Date: 2016
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/1208872
Description: To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS an ... More
Reviewed: Reviewed
Date: 2016
Subject Keyword: LRRK2 | inflammation | cytokine | Parkinson's | biomarker
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/1072971
Description: Background: We aimed to determine if peripheral or central inflammatory cytokines are altered in healthy subjects carrying a leucine-rich repeat kinase 2 (LRRK2) G2019S mutation, and thus genetically ... More
Reviewed: Reviewed
Date: 2015
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/1048674
Description: Missense and frameshift mutations in TRAF family member-associated NF-kappa-B activator (TANK)-binding kinase 1 (TBK1) have been reported in European sporadic and familial amyotrophic lateral sclerosi ... More
Reviewed: Reviewed
Date: 2013
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/275099
Description: A significant number of autosomal dominantly inherited Parkinson's disease (PD) cases are due to mutations in the leucine-rich repeat kinase 2 (LRRK2) gene. In cells, these pathogenic mutations have a ... More
Reviewed: Reviewed
Date: 2012
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/182454
Description: Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder characterized by deafness and dystonia. However the phenotypic expression of dystonia has not been systematically defined. We report c ... More
Reviewed: Reviewed
Date: 2011
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/172620
Description: Objective: To determine whether α-synuclein NACP-Rep1 and tau genotypes can predict the rate of progression of Parkinson's disease. Methods: 123 Parkinson's disease cases were recruited for neurologic ... More
Reviewed: Reviewed
Date: 2010
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/117593
Description: Objective: Diffusion tensor imaging (DTI) recently identified structural abnormalities of corticomotoneurons in asymptomatic copper/zinc superoxide-dismutase-1 (SOD-1) gene mutation carriers. The pote ... More
Reviewed: Reviewed
Date: 2010
Subject Keyword: 110300 Clinical Sciences
Language: eng
Resource Type: book chapter
Identifier: http://hdl.handle.net/1959.14/118389
Description: 20 page(s)
Authors: Rowe, Dominic B
Date: 2010
Subject Keyword: 110300 Clinical Sciences
Language: eng
Resource Type: book chapter
Identifier: http://hdl.handle.net/1959.14/118388
Description: 21 page(s)
Date: 2009
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/117610
Description: Recent whole genome association studies provided little evidence that polymorphisms at the familial Parkinsonism loci influence the risk for Parkinson's disease (PD). However, these studies are not de ... More
Reviewed: Reviewed
Date: 2009
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/117764
Description: MtDNA haplogroups J and K have been associated with a decreased risk of developing Parkinson's disease (PD). To confirm this finding, we compared the distribution of mtDNA haplogroups J and K in a lar ... More
Reviewed: Reviewed
Date: 2007
Subject Keyword: 110300 Clinical Sciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/117933
Description: A 62-year-old Indonesian woman presenting with a progressive supranuclear palsy–like syndrome was confirmed post mortem as dying from a spongiform encephalopathy. Despite an illness duration of only 4 ... More
Reviewed: Reviewed
Date: 2007
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/117934
Description: We determined the prevalence of two common leucine-rich repeat kinase 2 (LRRK2) gene mutations in Australian patients with Parkinson's disease (PD). Of 830 affected patients, eight were heterozygous f ... More
Reviewed: Reviewed
Date: 2007
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/117927
Description: Virus-induced signaling adaptor (VISA) is essential for host innate immune responses against double-stranded RNA viral infection and viral replication. It is an adaptor that activates the transcriptio ... More
Reviewed: Reviewed
Date: 2006
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/117913
Description: Background: With increasing awareness of motor neuron disease (MND) in Australia, the approach to respiratory management of patients with this disease will more commonly face the respiratory physician ... More
Reviewed: Reviewed