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Propensity-matched analysis comparing omaveloxolone treatment to Friedreich ataxia natural history data: a plain language summary Lynch, David R.; Goldsberry, Angie; Rummey, Christian; Farmer, Jennifer; Boesch, Sylvia; Delatycki, Martin B.; Giunti, Paola; Hoyle, J. Chad; Mariotti, Caterina; Mathews, Katherine D.; Nachbauer, Wolfgang; Perlman, Susan; Subramony, Sub H.; Wilmot, George; Zesiewicz, Theresa; Weissfeld, Lisa; Meyer, Colin Share Save
Automated Deep Learning-based Segmentation of the Dentate Nucleus Using Quantitative Susceptibility Mapping MRI Shiraishi, Diogo H.; Saha, Susmita; Adanyeguh, Isaac M.; Cocozza, Sirio; Corben, Louise A.; Deistung, Andreas; Delatycki, Martin B.; Dogan, Imis; Gaetz, William; Georgiou-Karistianis, Nellie; Graf, Simon; Grisoli, Marina; Henry, Pierre-Gilles; Jarola, Gustavo M.; Joers, James M.; Langkammer, Christian; Lenglet, Christophe; Li, Jiakun; Lobo, Camila C.; Lock, Eric F.; Lynch, David R.; Mareci, Thomas H.; Martinez, Alberto R. M.; Monti, Serena; Nigri, Anna; Pandolfo, Massimo; Reetz, Kathrin; Roberts, Timothy P.; Romanzetti, Sandro; Rudko, David A.; Scaravilli, Alessandra; Schulz, Jorg B.; Subramony, S. H.; Timmann, Dagmar; Franca, Marcondes C.; Harding, Ian H.; Rezende, Thiago J. R. Share Save
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A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol ( vol 17 ,e0269649 , 2022) Georgiou-Karistianis, Nellie; Corben, Louise A.; Reetz, Kathrin; Adanyeguh, Isaac M.; Corti, Manuela; Deelchand, Dinesh K.; Delatycki, Martin B.; Dogan, Imis; Evans, Rebecca; Farmer, Jennifer; Franca, Marcondes C.; Gaetz, William; Harding, Ian H.; Harris, Karen S.; Hersch, Steven; Joules, Richard; Joers, James J.; Krishnan, Michelle L.; Lax, Michelle; Lock, Eric F.; Lynch, David; Mareci, Thomas; Gamage, Sahan Muthuhetti; Pandolfo, Massimo; Papoutsi, Marina; Rezende, Thiago J. R.; Roberts, Timothy P. L.; Rosenberg, Jens T.; Romanzetti, Sandro; Schulz, Jorg B.; Schilling, Traci; Schwarz, Adam J.; Subramony, Sub; Yao, Bert; Zicha, Stephen; Lenglet, Christophe; Henry, Pierre-Gilles Share Save
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Nationwide, Couple-Based Genetic Carrier Screening Kirk, E. P.; Delatycki, M. B.; Archibald, A. D.; Tutty, E.; Caruana, J.; Halliday, J. L.; Lewis, S.; Mcclaren, B. J.; Newson, A. J.; Dive, L.; Best, S.; Long, J. C.; Braithwaite, J.; Downes, M. J.; Scuffham, P. A.; Massie, J.; Barlow-Stewart, K.; Kulkarni, A.; Ruscigno, A.; Kanga-Parabia, A.; Rodrigues, B.; Bennetts, B. H.; Ebzery, C.; Hunt, C.; Cliffe, C. C.; Lee, C.; Azmanov, D.; King, E. A.; Madelli, E. O.; Zhang, F.; Ho, G.; Danos, I.; Liebelt, J.; Fletcher, J.; Kennedy, J.; Beilby, J.; Emery, J. D.; Mcgaughran, J.; Marum, J. E.; Scarff, K.; Fisk, K.; Harrison, K.; Boggs, K.; Giameos, L.; Fitzgerald, L.; Thomas, L.; Burnett, L.; Freeman, L.; Harris, M.; Berbic, M.; Davis, M. R.; Cifuentes Ochoa, M.; Wallis, M.; Wall, M.; Chow, M. T. M.; Ferrie, M. M.; Pachter, N.; Quayum, N.; Lang, N.; Pandy, P. Kasi; Casella, R.; Allcock, R. J. N.; Ong, R.; Edwards, S.; Sundercombe, S.; Jelenich, S.; Righetti, S.; Lunke, S.; Kaur, S.; Stock-Myer, S.; Eggers, S.; Walker, S. P.; Theodorou, T.; Catchpool, T.; Clinch, T.; Roscioli, T.; Hardy, T.; Zhu, Y.; Fehlberg, Z.; Boughtwood, T. F.; Laing, N. G. Share Save
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Neuroimaging Biomarkers for Friedreich Ataxia: A Cross-Sectional Analysis of the TRACK-FA Study Georgiou-Karistianis, Nellie; Corben, Louise A.; Lock, Eric F.; Bujalka, Helena; Adanyeguh, Isaac; Corti, Manuela; Deelchand, Dinesh K.; Delatycki, Martin B.; Dogan, Imis; Farmer, Jennifer; Franca Jr, Marcondes C.; Gabay, Anthony S.; Gaetz, William; Harding, Ian H.; Joers, James; Lax, Michelle A.; Li, Jiakun; Lynch, David R.; Mareci, Thomas H.; Martinez, Alberto R. M.; Pandolfo, Massimo; Papoutsi, Marina; Parker, Richard G.; Reetz, Kathrin; Rezende, Thiago J. R.; Roberts, Timothy P.; Romanzetti, Sandro; Rudko, David A.; Saha, Susmita; Schulz, Joerg B.; Subramony, Sub H.; Supramaniam, Veena G.; Lenglet, Christophe; Henry, Pierre-Gilles Share Save
A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol (vol 17, e0269649, 2022) Georgiou-Karistianis, Nellie; Corben, Louise A.; Reetz, Kathrin; Adanyeguh, Isaac M.; Corti, Manuela; Deelchand, Dinesh K.; Delatycki, Martin B.; Dogan, Imis; Evans, Rebecca; Farmer, Jennifer; Franca, Marcondes C.; Gaetz, William; Harding, Ian H.; Harris, Karen S.; Hersch, Steven; Joules, Richard; Joers, James J.; Krishnan, Michelle L.; Lax, Michelle; Lock, Eric F.; Lynch, David; Mareci, Thomas; Gamage, Sahan Muthuhetti; Pandolfo, Massimo; Papoutsi, Marina; Rezende, Thiago J. R.; Roberts, Timothy P. L.; Rosenberg, Jens T.; Romanzetti, Sandro; Schulz, Joerg B.; Schilling, Traci; Schwarz, Adam J.; Subramony, Sub; Yao, Bert; Zicha, Stephen; Lenglet, Christophe; Henry, Pierre-Gilles Share Save
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Goal-Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single-Blind, Randomized Controlled Superiority Trial Milne, Sarah C.; Roberts, Melissa; Williams, Shannon; Chua, Jillian; Grootendorst, Alison C.; Agostinelli, Genevieve; Grobler, Anneke C.; Ross, Hannah L.; Robinson, Amy; Grove, Kristen; Modderman, Gabrielle; Price, Annabel; Thomson, Megan; Massey, Libby; Liang, Christina; Kumar, Kishore R.; Dalziel, Kim; Burns, Joshua; Sue, Carolyn M.; Pathirana, Pubudu N.; Horne, Malcolm; Gelfard, Nikki; Curd, Helen; Szmulewicz, David; Corben, Louise A.; Delatycki, Martin B. Share Save
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry (vol 15, 6327, 2024) Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina Share Save
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Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless Wallis, Mathew; Bodek, Simon D.; Munro, Jacob; Rafehi, Haloom; Bennett, Mark F.; Ye, Zimeng; Schneider, Amy; Gardiner, Fiona; Valente, Giulia; Murdoch, Emma; Uebergang, Eloise; Hunter, Jacquie; Stutterd, Chloe; Huq, Aamira; Salmon, Lucinda; Scheffer, Ingrid; Eratne, Dhamidhu; Meyn, Stephen; Fong, Chun Y.; John, Tom; Mullen, Saul; White, Susan M.; Brown, Natasha J.; McGillivray, George; Chen, Jesse; Richmond, Chris; Hughes, Andrew; Krzesinski, Emma; Fennell, Andrew; Chambers, Brian; Santoreneos, Renee; Le Fevre, Anna; Hildebrand, Michael S.; Bahlo, Melanie; Christodoulou, John; Delatycki, Martin; Berkovic, Samuel F. Share Save
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy Dimartino, Paola; Zadorozhna, Mariia; Yumiceba, Veronica; Basile, Anna; Cani, Ilaria; Melo, Uira Souto; Henck, Jana; Breur, Marjolein; Tonon, Caterina; Lodi, Raffaele; Brusco, Alfredo; Pippucci, Tommaso; Koufi, Foteini-Dionysia; Boschetti, Elisa; Ramazzotti, Giulia; Manzoli, Lucia; Ratti, Stefano; Vairo, Filippo Pinto E.; Delatycki, Martin B.; Vaula, Giovanna; Cortelli, Pietro; Bugiani, Marianna; Spielmann, Malte; Giorgio, Elisa Share Save
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