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Roger Pamphlett

Westmead Hospital

43H-index
228Paper Count
8.6KCitation Count
Published Papers 68
Publication Date
Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report
err2025-11-01
err0
PREAI
errSiriniwasa, Himath; Stirling, Macken James Laurence; Kean, Siobhan; Pamphlett, Roger; Silsby, Matthew
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Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
err2023-05-05
err15
errOAAI
errHenden, Lyndal; Fearnley, Liam G.; Grima, Natalie; McCann, Emily P.; Dobson-Stone, Carol; Fitzpatrick, Lauren; Friend, Kathryn; Hobson, Lynne; Fat, Sandrine Chan Moi; Rowe, Dominic B.; D'Silva, Susan; Kwok, John B.; Halliday, Glenda M.; Kiernan, Matthew C.; Mazumder, Srestha; Timmins, Hannah C.; Zoing, Margaret; Pamphlett, Roger; Adams, Lorel; Bahlo, Melanie; Blair, Ian P.; Williams, Kelly L.
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Potentially toxic elements in the brains of people with multiple sclerosis
err2023-01-12
err9
errOAAI
errPamphlett, Roger; Buckland, Michael E.; Bishop, David P.
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NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk
err2022-08-01
err0
PREAI
errGrima, Natalie; Henden, Lyndal; Fearnley, Liam G.; Rowe, Dominic B.; D'Silva, Susan; Pamphlett, Roger; Adams, Lorel; Kiernan, Matthew C.; Mazumder, Srestha; Timmins, Hannah C.; Zoing, Margaret; Bahlo, Melanie; Blair, Ian P.; Williams, Kelly L.
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Association between DNA methylation variability and self-reported exposure to heavy metals
err2022-06-22
err9
errOAAI
errFreydenzon, Anna; Nabais, Marta F.; Lin, Tian; Williams, Kelly L.; Wallace, Leanne; Henders, Anjali K.; Blair, Ian P.; Wray, Naomi R.; Pamphlett, Roger; McRae, Allan F.
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Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
err2022-02-23
err50
errOAAI
errHop, Paul J.; Zwamborn, Ramona A. J.; Hannon, Eilis; Shireby, Gemma L.; Nabais, Marta F.; Walker, Emma M.; van Rheenen, Wouter; van Vugt, Joke J. F. A.; Dekker, Annelot M.; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Moisse, Matthieu; Baird, Denis; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Ticozzi, Nicola; Ratti, Antonia; Cooper-Knock, Jonathan; Morrison, Karen E.; Shaw, Pamela J.; Basak, A. Nazli; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Canosa, Antonio; Brunetti, Maura; Grassano, Maurizio; Gotkine, Marc; Lerner, Yossef; Zabari, Michal; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Pardina, Jesus S. Mora; Salas, Teresa; Dion, Patrick; Ross, Jay P.; Henderson, Robert D.; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Nicholson, Garth; Rowe, Dominic B.; Pamphlett, Roger; Mather, Karen A.; Sachdev, Perminder S.; Furlong, Sarah; Garton, Fleur C.; Henders, Anjali K.; Lin, Tian; Ngo, Shyuan T.; Steyn, Frederik J.; Wallace, Leanne; Williams, Kelly L.; Neto, Miguel Mitne; Cauchi, Ruben J.; Blair, Ian P.; Kiernan, Matthew C.; Drory, Vivian; Povedano, Monica; de Carvalho, Mamede; Pinto, Susana; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; McRae, Allan F.; van Es, Michael A.; Pasterkamp, R. Jeroen; Wray, Naomi R.; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Tsai, Ellen; Runz, Heiko; Al-Chalabi, Ammar; van den Berg, Leonard H.; Van Damme, Philip; Mill, Jonathan; Veldink, Jan H.
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)
err2022-01-31
err1
errOAAI
errvan Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; van Vugt, Joke J. F. A.; Hop, Paul J.; Zwamborn, Ramona A. J.; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M.; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Kooyman, Maarten; Byrne, Ross P.; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N.; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; Basak, Nazli; van der Kooi, Anneke J.; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Soraru, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H.; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stephanie; Meininger, Vincent; Salachas, Francois; Mora Pardina, Jesus S.; Assialioui, Abdelilah; Rojas-Garcia, Ricardo; Dion, Patrick A.; Ross, Jay P.; Ludolph, Albert C.; Weishaupt, Jochen H.; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A. M.; Saker-Delye, Safa; Wood, Nicholas W.; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C.; Olsen, Catherine M.; Uitterlinden, Andre G.; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nothen, Markus M.; Amouyel, Philippe; Comi, Giancarlo; Riva, Nilo; Lunetta, Christian; Gerardi, Francesca; Cotelli, Maria Sofia; Rinaldi, Fabrizio; Chiveri, Luca; Guaita, Maria Cristina; Perrone, Patrizia; Ceroni, Mauro; Diamanti, Luca; Ferrarese, Carlo; Tremolizzo, Lucio; Delodovici, Maria Luisa; Bono, Giorgio; Manera, Umberto; Vasta, Rosario; Bombaci, Alessandro; Casale, Federico; Fuda, Giuseppe; Salamone, Paolina; Iazzolino, Barbara; Peotta, Laura; Cugnasco, Paolo; De Marco, Giovanni; Torrieri, Maria Claudia; Palumbo, Francesca; Gallone, Salvatore; Barberis, Marco; Sbaiz, Luca; Gentile, Salvatore; Mauro, Alessandro; Mazzini, Letizia; De Marchi, Fabiola; Corrado, Lucia; D'Alfonso, Sandra; Bertolotto, Antonio; Gionco, Maurizio; Leotta, Daniela; Odddenino, Enrico; Imperiale, Daniele; Cavallo, Roberto; Pignatta, Pietro; De Mattei, Marco; Geda, Claudio; Papurello, Diego Maria; Gusmaroli, Graziano; Comi, Cristoforo; Labate, Carmelo; Ruiz, Luigi; Ferrandi, Delfina; Rota, Eugenia; Aguggia, Marco; Di Vito, Nicoletta; Meineri, Piero; Ghiglione, Paolo; Launaro, Nicola; Dotta, Michele; Di Sapio, Alessia; Giardini, Guido; Tiloca, Cinzia; Peverelli, Silvia; Taroni, Franco; Pensato, Viviana; Castellotti, Barbara; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Corrado, Lucia; Mazzini, Letizia; Raggi, Flavia; Simoncini, Costanza; Lo Gerfo, Annalisa; Inghilleri, Maurizio; Ferlini, Alessandra; Simone, Isabella L.; Passarella, Bruno; Guerra, Vito; Zoccolella, Stefano; Nozzoli, Cecilia; Mundi, Ciro; Leone, Maurizio; Zarrelli, Michele; Tamma, Filippo; Valluzzi, Francesco; Calabrese, Gianluigi; Boero, Giovanni; Rini, Augusto; Traynor, Bryan J.; Singleton, Andrew B.; Mitne Neto, Miguel; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Joerk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W.; Steinbach, Robert; Huebner, Christian A.; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaz; Zidar, Janez; Ravnik-Glavac, Metka; Glavac, Damjan; Stevic, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P.; Kiernan, Matthew C.; Benyamin, Beben; Henderson, Robert D.; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Ngo, Shyuan T.; Nicholson, Garth A.; Pamphlett, Roger; Rowe, Dominic B.; Steyn, Frederik J.; Williams, Kelly L.; Mather, Karen A.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Curtis, Charles J.; Breen, Gerome; Glass, Jonathan D.; Brown, Robert H., Jr.; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; Groen, Ewout J. N.; van Es, Michael A.; Pasterkamp, R. Jeroen; Fan, Dongsheng; Garton, Fleur C.; McRae, Allan F.; Davey Smith, George; Gaunt, Tom R.; Eberle, Michael A.; Mill, Jonathan; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
err2021-12-06
err235
errOAAI
errvan Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; van Vugt, Joke J. F. A.; Hop, Paul J.; Zwamborn, Ramona A. J.; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M.; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Kooyman, Maarten; Byrne, Ross P.; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N.; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; Basak, Nazli; van der Kooi, Anneke J.; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Soraru, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H.; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stephanie; Meininger, Vincent; Salachas, Francois; Mora Pardina, Jesus S.; Assialioui, Abdelilah; Rojas-Garcia, Ricardo; Dion, Patrick A.; Ross, Jay P.; Ludolph, Albert C.; Weishaupt, Jochen H.; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A. M.; Saker-Delye, Safa; Wood, Nicholas W.; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C.; Olsen, Catherine M.; Uitterlinden, Andre G.; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nothen, Markus M.; Amouyel, Philippe; Comi, Giancarlo; Riva, Nilo; Lunetta, Christian; Gerardi, Francesca; Cotelli, Maria Sofia; Rinaldi, Fabrizio; Chiveri, Luca; Guaita, Maria Cristina; Perrone, Patrizia; Ceroni, Mauro; Diamanti, Luca; Ferrarese, Carlo; Tremolizzo, Lucio; Delodovici, Maria Luisa; Bono, Giorgio; Manera, Umberto; Vasta, Rosario; Bombaci, Alessandro; Casale, Federico; Fuda, Giuseppe; Salamone, Paolina; Iazzolino, Barbara; Peotta, Laura; Cugnasco, Paolo; De Marco, Giovanni; Torrieri, Maria Claudia; Palumbo, Francesca; Gallone, Salvatore; Barberis, Marco; Sbaiz, Luca; Gentile, Salvatore; Mauro, Alessandro; Mazzini, Letizia; De Marchi, Fabiola; Corrado, Lucia; D'Alfonso, Sandra; Bertolotto, Antonio; Gionco, Maurizio; Leotta, Daniela; Odddenino, Enrico; Imperiale, Daniele; Cavallo, Roberto; Pignatta, Pietro; De Mattei, Marco; Geda, Claudio; Papurello, Diego Maria; Gusmaroli, Graziano; Comi, Cristoforo; Labate, Carmelo; Ruiz, Luigi; Ferrandi, Delfina; Rota, Eugenia; Aguggia, Marco; Di Vito, Nicoletta; Meineri, Piero; Ghiglione, Paolo; Launaro, Nicola; Dotta, Michele; Di Sapio, Alessia; Giardini, Guido; Tiloca, Cinzia; Peverelli, Silvia; Taroni, Franco; Pensato, Viviana; Castellotti, Barbara; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Corrado, Lucia; Mazzini, Letizia; Raggi, Flavia; Simoncini, Costanza; Lo Gerfo, Annalisa; Inghilleri, Maurizio; Ferlini, Alessandra; Simone, Isabella L.; Passarella, Bruno; Guerra, Vito; Zoccolella, Stefano; Nozzoli, Cecilia; Mundi, Ciro; Leone, Maurizio; Zarrelli, Michele; Tamma, Filippo; Valluzzi, Francesco; Calabrese, Gianluigi; Boero, Giovanni; Rini, Augusto; Traynor, Bryan J.; Singleton, Andrew B.; Mitne Neto, Miguel; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Joerk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W.; Steinbach, Robert; Huebner, Christian A.; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaz; Zidar, Janez; Ravnik-Glavac, Metka; Glavac, Damjan; Stevic, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P.; Kiernan, Matthew C.; Benyamin, Beben; Henderson, Robert D.; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Ngo, Shyuan T.; Nicholson, Garth A.; Pamphlett, Roger; Rowe, Dominic B.; Steyn, Frederik J.; Williams, Kelly L.; Mather, Karen A.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Curtis, Charles J.; Breen, Gerome; Glass, Jonathan D.; Brown, Robert H., Jr.; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; Groen, Ewout J. N.; van Es, Michael A.; Pasterkamp, R. Jeroen; Fan, Dongsheng; Garton, Fleur C.; McRae, Allan F.; Davey Smith, George; Gaunt, Tom R.; Eberle, Michael A.; Mill, Jonathan; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.
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Microglia and monocytes in inflammatory CNS disease: integrating phenotype and function
err2021-12-01
err112
errOAAI
errSpiteri, Alanna G.; Wishart, Claire L.; Pamphlett, Roger; Locatelli, Giuseppe; King, Nicholas J. C.
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Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis
err2021-06-14
err11
errOAAI
errFifita, Jennifer A.; Chan Moi Fat, Sandrine; McCann, Emily P.; Williams, Kelly L.; Twine, Natalie A.; Bauer, Denis C.; Rowe, Dominic B.; Pamphlett, Roger; Kiernan, Matthew C.; Tan, Vanessa X.; Blair, Ian P.; Guillemin, Gilles J.
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Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis
err2021-05-01
err9
PREAI
errFat, Sandrine Chan Moi; McCann, Emily P.; Williams, Kelly L.; Henden, Lyndal; Twine, Natalie A.; Bauer, Denis C.; Pamphlett, Roger; Kiernan, Matthew C.; Rowe, Dominic B.; Nicholson, Garth A.; Fifita, Jennifer A.; Blair, Ian P.
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Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia
err2021-04-27
err18
errOAAI
errRestuadi, Restuadi; Garton, Fleur C.; Benyamin, Beben; Lin, Tian; Williams, Kelly L.; Vinkhuyzen, Anna; van Rheenen, Wouter; Zhu, Zhihong; Laing, Nigel G.; Mather, Karen A.; Sachdev, Perminder S.; Ngo, Shyuan T.; Steyn, Frederik J.; Wallace, Leanne; Henders, Anjali K.; Visscher, Peter M.; Needham, Merrilee; Mathers, Susan; Nicholson, Garth; Rowe, Dominic B.; Henderson, Robert D.; McCombe, Pamela A.; Pamphlett, Roger; Blair, Ian P.; Wray, Naomi R.; McRae, Allan F.
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Mercury in the human adrenal medulla could contribute to increased plasma noradrenaline in aging
err2021-02-03
err7
errOAAI
errPamphlett, Roger; Jew, Stephen Kum; Doble, Philip A.; Bishop, David P.
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Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics
err2020-10-01
err45
errOAAI
errIacoangeli, Alfredo; Lin, Tian; Al Khleifat, Ahmad; Jones, Ashley R.; Opie-Martin, Sarah; Coleman, Jonathan R., I; Shatunov, Aleksey; Sproviero, William; Williams, Kelly L.; Garton, Fleur; Restuadi, Restuadi; Henders, Anjali K.; Mather, Karen A.; Needham, Merilee; Mathers, Susan; Nicholson, Garth A.; Rowe, Dominic B.; Henderson, Robert; McCombe, Pamela A.; Pamphlett, Roger; Blair, Ian P.; Schultz, David; Sachdev, Perminder S.; Newhouse, Stephen J.; Proitsi, Petroula; Fogh, Isabella; Ngo, Shyuan T.; Dobson, Richard J. B.; Wray, Naomi R.; Steyn, Frederik J.; Al-Chalabi, Ammar
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Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
err2020-05-14
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errOAAI
errMcCann, Emily P.; Henden, Lyndal; Fifita, Jennifer A.; Zhang, Katharine Y.; Grima, Natalie; Bauer, Denis C.; Chan Moi Fat, Sandrine; Twine, Natalie A.; Pamphlett, Roger; Kiernan, Matthew C.; Rowe, Dominic B.; Williams, Kelly L.; Blair, Ian P.
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A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity
err2020-03-06
err15
errOAAI
errStringer, Robin N.; Jurkovicova-Tarabova, Bohumila; Huang, Sun; Haji-Ghassemi, Omid; Idoux, Romane; Liashenko, Anna; Souza, Ivana A.; Rzhepetskyy, Yuriy; Lacinova, Lubica; Van Petegem, Filip; Zamponi, Gerald W.; Pamphlett, Roger; Weiss, Norbert
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