Not logged in Share Save
Share Save
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study Balaji, Lakshmi; Forbes, Robin; Cairns, Anita; Sampaio, Hugo; Kornberg, Andrew J.; Sanders, Lauren; Lamont, Phillipa; Liang, Christina; Jones, Kristi J.; Nowak, Kristen; O'Gorman, Cullen; Woodcock, Ian; Briggs, Nancy; Yiu, Eppie M.; Farrar, Michelle A.; Kariyawasam, Didu Share Save
Share Save
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth Harms, Frederike L.; Rexach, Jessica Erin; Efthymiou, Stephanie; Aynekin, Busra; Per, Huseyin; Gulec, Ayten; Nampoothiri, Sheela; Sampaio, Hugo; Sachdev, Rani; Stoeva, Radka; Myers, Kasiani; Pena, Loren D. M.; Kalfa, Theodosia A.; Chard, Marisa; Klassen, Megan; Pries, Megan; Kutsche, Kerstin Share Save
CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation Yan, Jingya; Kothur, Kavitha; Mohammad, Shekeeb; Chung, Jason; Patel, Shrujna; Jones, Hannah F.; Keating, Brooke A.; Han, Velda X.; Webster, Richard; Ardern-Holmes, Simone; Antony, Jayne; Menezes, Manoj P.; Tantsis, Esther; Gill, Deepak; Gupta, Sachin; Kandula, Tejaswi; Sampaio, Hugo; Farrar, Michelle A.; Troedson, Christopher; Andrews, P. Ian; Pillai, Sekhar C.; Heng, Benjamin; Guillemin, Gilles J.; Guller, Anna; Bandodkar, Sushil; Dale, Russell C. Share Save
Share Save
Share Save
Urgent computed tomography angiography in paediatric stroke Briest, Romain C.; Cheung, Andrew K.; Kandula, Tejaswi; Cardamone, Michael; Pillai, Sekhar C.; Sampaio, Hugo; Teoh, Hooi-Ling; Webster, Richard, I; Wenderoth, Jason D.; Andrews, P. Ian Share Save
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy D'Silva, Arlene M.; Holland, Sandra; Kariyawasam, Didu; Herbert, Karen; Barclay, Peter; Cairns, Anita; MacLennan, Suzanna C.; Ryan, Monique M.; Sampaio, Hugo; Smith, Nicholas; Woodcock, Ian R.; Yiu, Eppie M.; Alexander, Ian E.; Farrar, Michelle A. Share Save
Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial Davidson, Zoe E.; Hughes, Ian; Ryan, Monique M.; Kornberg, Andrew J.; Cairns, Anita G.; Jones, Kristi; Hutchence, Meghan; Sampaio, Hugo; Morrison, Margot; Truby, Helen Share Save
Share Save
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies Palmer, Elizabeth Emma; Sachdev, Rani; Macintosh, Rebecca; Melo, Uira Souto; Mundlos, Stefan; Righetti, Sarah; Kandula, Tejaswi; Minoche, Andre E.; Puttick, Clare; Gayevskiy, Velimir; Hesson, Luke; Idrisoglu, Senel; Shoubridge, Cheryl; Thai, Monica Hong Ngoc; Davis, Ryan L.; Drew, Alexander P.; Sampaio, Hugo; Andrews, Peter Ian; Lawson, John; Cardamone, Michael; Mowat, David; Colley, Alison; Kummerfeld, Sarah; Dinger, Marcel E.; Cowley, Mark J.; Roscioli, Tony; Bye, Ann; Kirk, Edwin Share Save
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase Waddell, Leigh B.; Bryen, Samantha J.; Cummings, Beryl B.; Bournazos, Adam; Evesson, Frances J.; Joshi, Himanshu; Marshall, Jamie L.; Tukiainen, Taru; Valkanas, Elise; Weisburd, Ben; Sadedin, Simon; Davis, Mark R.; Faiz, Fathimath; Gooding, Rebecca; Sandaradura, Sarah A.; O'Grady, Gina L.; Tchan, Michel C.; Mowat, David R.; Oates, Emily C.; Farrar, Michelle A.; Sampaio, Hugo; Ma, Alan; Neas, Katherine; Wang, Min-Xia; Charlton, Amanda; Chan, Charles; Kenwright, Diane N.; Graf, Nicole; Arbuckle, Susan; Clarke, Nigel F.; MacArthur, Daniel G.; Jones, Kristi J.; Lek, Monkol; Cooper, Sandra T. Share Save
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth Harms, Frederike L.; Parthasarathy, Padmini; Zorndt, Dennis; Alawi, Malik; Fuchs, Sigrid; Halliday, Benjamin J.; McKeown, Colina; Sampaio, Hugo; Radhakrishnan, Natasha; Radhakrishnan, Suresh K.; Gorce, Magali; Navet, Benjamin; Ziegler, Alban; Sachdev, Rani; Robertson, Stephen P.; Nampoothiri, Sheela; Kutsche, Kerstin Share Save
Share Save
Share Save
Next generation sequencing of human enterovirus strains from an outbreak of enterovirus A71 shows applicability to outbreak investigations Stelzer-Braid, Sacha; Wynn, Matthew; Chatoor, Richard; Scotch, Matthew; Ramachandran, Vidiya; Teoh, Hooi-Ling; Farrar, Michelle A.; Sampaio, Hugo; Andrews, Peter Ian; Craig, Maria E.; MacIntyre, C. Raina; Varadhan, Hemalatha; Kesson, Alison; Britton, Philip N.; Newcombe, James; Rawlinson, William D. Share Save
Joshua Burns and Oranee Sanmaneechai for the Inherited Neuropathies Consortium. Development and validation of the Charcot-Marie-Tooth Disease Infant Scale (vol 141, 3319, 2018) Mandarakas, Melissa R.; Menezes, Manoj P.; Rose, Kristy J.; Shy, Rosemary; Eichinger, Kate; Foscan, Maria; Estilow, Timothy; Kennedy, Rachel; Herbert, Karen; Bray, Paula; Refshauge, Kathryn; Ryan, Monique M.; Yiu, Eppie M.; Farrar, Michelle; Sampaio, Hugo; Moroni, Isabella; Pagliano, Emanuela; Pareyson, Davide; Yum, Sabrina W.; Herrmann, David N.; Acsadi, Gyula; Shy, Michael E.; Burns, Joshua; Sanmaneechai, Oranee Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}