Not logged in The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (vol 13, 6901, 2022) Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D.; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R.; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P.; Al-Khleifat, Ahmad; Williams, Kelly L.; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A.; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J.; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H.; Landers, John E.; Glass, Jonathan D.; Mora, Jesus S.; Robberecht, Wim; Van Damme, Philip; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H.; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P.; Fan, Dong-sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A.; Siddique, Teepu; Miller, Timothy; Brown, Robert H.; Al-Chalabi, Ammar; Shaw, Christopher E. Share Save
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia Thumbadoo, Kyrah M.; Dieriks, Birger, V; Murray, Helen C.; Swanson, Molly E., V; Yoo, Ji Hun; Mehrabi, Nasim F.; Turner, Clinton; Dragunow, Michael; Faull, Richard L. M.; Curtis, Maurice A.; Siddique, Teepu; Shaw, Christopher E.; Newell, Kathy L.; Henden, Lyndal; Williams, Kelly L.; Nicholson, Garth A.; Scotter, Emma L. Share Save
RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery Grima, Natalie; Liu, Sidong; Southwood, Dean; Henden, Lyndal; Smith, Andrew; Lee, Albert; Rowe, Dominic B.; D'Silva, Susan; Blair, Ian P.; Williams, Kelly L. Share Save
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Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia Henden, 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. Share Save
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D.; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R.; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P.; Al-Khleifat, Ahmad; Williams, Kelly L.; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A.; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J.; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H.; Landers, John E.; Glass, Jonathan D.; Mora, Jesus S.; Robberecht, Wim; Van Damme, Philip; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H.; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P.; Fan, Dong-sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A.; Siddique, Teepu; Miller, Timothy; Brown, Robert H.; Al-Chalabi, Ammar; Shaw, Christopher E. Share Save
NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk Grima, 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. Share Save
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Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis Hogan, Alison L.; Grima, Natalie; Fifita, Jennifer A.; McCann, Emily P.; Heng, Benjamin; Fat, Sandrine Chan Moi; Wu, Sharlynn; Maharjan, Ram; Cain, Amy K.; Henden, Lyndal; Rayner, Stephanie; Tarr, Ingrid; Zhang, Katharine Y.; Zhao, Qiongyi; Zhang, Zong-Hong; Wright, Amanda; Lee, Albert; Morsch, Marco; Yang, Shu; Williams, Kelly L.; Blair, Ian P. Share Save
Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis Fat, 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. Share Save
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis McCann, 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. Share Save
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice McCann, Emily P.; Fifita, Jennifer A.; Grima, Natalie; Galper, Jasmin; Mehta, Prachi; Freckleton, Sarah E.; Zhang, Katharine Y.; Henden, Lyndal; Hogan, Alison L.; Chan Moi Fat, Sandrine; Wu, Sharlynn S. L.; Jagaraj, Cyril J.; Berning, Britt A.; Williams, Kelly Louise; Twine, Natalie A.; Bauer, Denis; Piguet, Olivier; Hodges, John; Kwok, John B. J.; Halliday, Glenda M.; Kiernan, Matthew C.; Atkin, Julie; Rowe, Dominic B.; Nicholson, Garth A.; Walker, Adam K.; Blair, Ian P.; Yang, Shu Share Save
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EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO Skopkova, Martina; Hennig, Friederike; Shin, Byung-Sik; Turner, Clesson E.; Stanikova, Daniela; Brennerova, Katarina; Stanik, Juraj; Fischer, Ute; Henden, Lyndal; Mueller, Ulrich; Steinberger, Daniela; Leshinsky-Silver, Esther; Bottani, Armand; Kurdiova, Timea; Ukropec, Jozef; Nyitrayova, Olga; Kolnikova, Miriam; Klimes, Iwar; Borck, Guntram; Bahlo, Melanie; Haas, Stefan A.; Kim, Joo-Ran; Lotspeich-Cole, Leda E.; Gasperikova, Daniela; Dever, Thomas E.; Kalscheuer, Vera M. Share Save
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2 Henden, Lyndal; Freytag, Saskia; Afawi, Zaid; Baldassari, Sara; Berkovic, Samuel F.; Bisulli, Francesca; Canafoglia, Laura; Casari, Giorgio; Crompton, Douglas Ewan; Depienne, Christel; Gecz, Jozef; Guerrini, Renzo; Helbig, Ingo; Hirsch, Edouard; Keren, Boris; Klein, Karl Martin; Labauge, Pierre; LeGuern, Eric; Licchetta, Laura; Mei, Davide; Nava, Caroline; Pippucci, Tommaso; Rudolf, Gabrielle; Scheffer, Ingrid Eileen; Striano, Pasquale; Tinuper, Paolo; Zara, Federico; Corbett, Mark; Bahlo, Melanie Share Save
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