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Date: 2017
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/1220054
Description: Mutations in the optineurin gene (OPTN) have been identified in a small proportion (<1%) of sporadic and familial ALS cases, and the exact role of optineurin in the pathogenesis of ALS remains unclear ... More
Reviewed: Reviewed
Date: 2016
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/1108612
Description: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal neurodegenerative disorders in which the molecular and pathogenic basis remains poorly understood. Ubiquiti ... More
Full Text: Full Text
Reviewed: Reviewed
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: 2015
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/358099
Description: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterised by the progressive degeneration of brain and spinal cord motor neurons. Ubiquitin-proteasome system (UPS) dysfun ... More
Reviewed: Reviewed
Date: 2015
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/1259848
Description: Inherited peripheral neuropathies (IPNs) are a group of related diseases primarily affecting the peripheral motor and sensory neurons. They include the hereditary sensory neuropathies (HSN), hereditar ... More
Full Text: Full Text
Reviewed: Reviewed
Date: 2015
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/1063562
Description: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that arises from the progressive degeneration of the motor neurons. Recently, mutations in the matrin 3 (MATR3) gene were descr ... 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: 2014
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/343716
Description: Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family m ... More
Reviewed: Reviewed
Date: 2014
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/294959
Description: FUS mutations can occur in familial amyotrophic lateral sclerosis (fALS), a neurodegenerative disease with cytoplasmic FUS inclusion bodies in motor neurons. To investigate FUS pathology, we generated ... More
Full Text: Full Text
Reviewed: Reviewed
Date: 2013
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314702
Description: Hereditary motor and sensory disorders of the peripheral nerve form one of the most common groups of human genetic diseases collectively called Charcot-Marie-Tooth (CMT) neuropathy. Using linkage anal ... More
Reviewed: Reviewed
Date: 2013
Subject Keyword: 110300 Clinical Sciences | Genetics | Risk | SOD1
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314725
Description: Although anticipation has been previously reported in the copper/zinc superoxide dismutase-1 (SOD1) associated familial amyotrophic lateral sclerosis (FALS), some have argued that this may represent a ... More
Reviewed: Reviewed
Date: 2013
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314789
Description: Background: Mutations in DNA methyltransferase 1 (DNMT1) have been identified in 2 autosomal dominant syndromes: 1) hereditary sensory autonomic neuropathy with dementia and hearing loss (HSAN1E); and ... More
Reviewed: Reviewed
Date: 2013
Subject Keyword: 110900 Neurosciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/276103
Description: Amyotrophic lateral sclerosis (ALS) is a devastating neurological disorder characterized by the degeneration of motor neurons and typically results in death within 3-5 years from onset. Familial ALS ( ... More
Reviewed: Reviewed
Date: 2013
Subject Keyword: 110900 Neurosciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/276616
Description: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease whose causes are still poorly understood. To identify additional genetic risk factors, we assessed the role of de novo mu ... More
Reviewed: Reviewed
Date: 2013
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/228652
Description: Mutations in PFN1, a gene encoding the actin monomer-binding protein profilin 1, were recently reported in 1% to 2% of familial amyotrophic lateral sclerosis (ALS) patients. Invitro functional studies ... More
Reviewed: Reviewed