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Organization name
Neurology

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Results 1-53 of 53 (Search time: 0.0 seconds).

PreviewIssue DateTitleAuthor(s)
1Jan-2021What is the ‘Optimal’Target Mismatch Criteria for Acute Ischaemic Stroke?O'Brien, Bill ; Chen, C.; Parsons, M.W.; Levi, C.; Spratt, N.J.; Lin, L.; Kleinig, T.; Butcher, K.; Cheng, X.; Dong, Q.
2Sep-2023Very late-onset limb-girdle congenital myasthenic syndrome due to GFPT1 mutationEl-Wahsh, Shadi; Wijesinghe, Rajiv; Qiu, Jessica; Heard, Robert ; Stoll, Marion; Reddel, Stephen
3Mar-2017Validating a predictive model of acute advanced imaging biomarkers in ischemic strokeO'Brien, Bill ; Bivard, A.; Levi, C.R.; Lin, L.; Cheng, X.; Aviv, R.I.; Spratt, N.J.; Lou, M.; Kleinig, T.; Butcher, K.; Zhang, J.; Jannes, J.; Dong, Q.; Parsons, M.W.
4Aug-2016Too good to treat? Ischemic stroke patients with small computed tomography perfusion lesions may not benefit from thrombolysisO'Brien, Bill ; Bivard, A.; Lou, M.; Levi, C.R.; Krishnamurthy, V.; Cheng, X.; Aviv, R.I.; McElduff, P.; Lin, L.; Kleinig, T.; Butcher, K.; Jingfen, Z.; Jannes, J.; Dong, Q.; Parsons, M.W.
5May-2019Thrombolysis Guided by Perfusion Imaging up to 9 Hours after Onset of StrokeSturm, Jonathan ; Ma, H.; Campbell, B.C.V.; Parsons, M.W.; Churilov, L.; Levi, C.R.; Hsu, C.; Kleinig, T.J.; Wijeratne, T.; Curtze, S.; Dewey, H.M.; Miteff, F.; Tsai, C.H.; Lee, J.T.; Phan, T.G.; Mahant, N.; Sun, M.C.; Krause, Martin; Grimley, R.; Chen, C.H.; Hu, C.J.; Wong, A.A.; Field, D.; Sun, Y.; Barber, P.A.; Sabet, A.; Jannes, J.; Jeng, J.S.; Clissold, B.; Markus, R.; Lin, C.H.; Lien, L.M.; Bladin, C.F.; Christensen, S.; Yassi, N.; Sharma, G.; Bivard, A.; Desmond, P.M.; Yan, B.; Mitchell, P.J.; Thijs, V.; Carey, L.; Meretoja, A.; Davis, S.M.; Donnan, G.A.
6Apr-2018Tenecteplase versus alteplase before endovascular thrombectomy (EXTEND-IA TNK): A multicenter, randomized, controlled studyO'Brien, Bill ; Campbell, B.C.; Mitchell, P.J.; Churilov, L.; Yassi, N.; Kleinig, T.J.; Yan, B.; Dowling, R.J.; Bush, S.J.; Dewey, H.M.; Thijs, V.; Simpson, M.; Brooks, M.; Asadi, H.; Wu, T.Y.; Shah, D.G.; Wijeratne, T.; Ang, T.; Miteff, F.; Levi, C.; Krause, Martin; Harrington, T.J.; Faulder, K.C.; Steinfort, B.S.; Bailey, P.; Rice, H.; de Villiers, L.; Scroop, R.; Collecutt, W.; Wong, A.A.; Coulthard, A.; Barber, P.A.; McGuinness, B.; Field, D.; Ma, H.; Chong, W.; Chandra, R.V.; Bladin, C.F.; Brown, H.; Redmond, K.; Leggett, D.; Cloud, G.; Madan, A.; Mahant, N.; Worthington, J.; Parker, G.; Desmond, P.M.; Parsons, M.W.; Donnan, G.A.; Davis, S.M.
7Jun-2015TElmisartan in the management of abDominal aortic aneurYsm (TEDY): The study protocol for a randomized controlled trialBourke, Bernard ; Bourke, Michael ; Morris, D.R.; Cunningham, M.A.; Ahimastos, A.A.; Kingwell, B.A.; Pappas, E.; Reid, C.M.; Stijnen, T.; Dalman, R.L.; Aalami, O.O.; Lindeman, J.H.; Norman, P.E.; Walker, P.J.; Fitridge, R.; Dear, A.E.; Pinchbeck, J.; Jaeggi, R.; Golledge, J.
87-Dec-2023TACTICS VR Stroke Telehealth Virtual Reality Training for Health Care Professionals Involved in Stroke Management at Telestroke Spoke Hospitals: Module Design and Implementation StudyMaltby, Steven; Garcia-Esperon, Carlos; Jackson, Kate; Butcher, Ken; Evans, James W ; O'Brien, William ; Dixon, Courtney; Russell, Skye; Wilson, Natalie; Kluge, Murielle G; Ryan, Annika; Paul, Christine L; Spratt, Neil J; Levi, Christopher R; Walker, Frederick Rohan
9Jun-2021Syphilitic meningitis presenting with multiple cranial neuropathiesSturm, Jonathan ; Chu, M.; Kumar, S.
10Dec-2019Spontaneous cervical epidural haematoma-diagnosis as unexpected finding by CT: case seriesNaeem, Adil ; Hanson, Julian ; Freebody, John ; Schutz, Anna ; O'Brien, Bill 
11May-2018Single port component separation: endoscopic external oblique release for complex ventral hernia repairTomazini Martins, Rodrigo ; Elstner, K.E.; Read, J.W.; Jacombs, A.S.W.; Arduini, F.; Cosman, P.H.; Rodriguez-Acevedo, O.; Dardano, A.N.; Karatassas, A.; Ibrahim, N.
12Jan-2019Sex Differences in Severity of Stroke in the INSTRUCT Study: a Meta-Analysis of Individual Participant DataSturm, Jonathan ; Phan, H.T.; Reeves, M.J.; Blizzard, C.L.; Thrift, A.G.; Cadilhac, D.A.; Otahal, P.; Bejot, Y.; Rothwell, P.; Cabral, N.L.; Appelros, P.; Korv, J.; Vibo, R.; Minelli, C.; Gall, S.L.
13Feb-2017Sex Differences in Long-Term Mortality After Stroke in the INSTRUCT (INternational STRoke oUtComes sTudy): A Meta-Analysis of Individual Participant DataSturm, Jonathan ; Phan, H.T.; Blizzard, C.L.; Reeves, M.J.; Thrift, A.G.; Cadilhac, D.A.; Heeley, E.; Otahal, P.; Konstantinos, V.; Anderson, C.; Parmar, P.; Krishnamurthi, R.; Barker-Collo, S.; Feigin, V.; Bejot, Y.; Cabral, N.L.; Carolei, A.; Sacco, S.; Chausson, N.; Olindo, S.; Rothwell, P.; Silva, C.; Correia, M.; Magalhaes, R.; Appelros, P.; Korv, J.; Vibo, R.; Minelli, C.; Gall, S.L.
14Apr-2019Selective muscle botulinum toxin A component paralysis in complex ventral hernia repairTomazini Martins, Rodrigo ; Elstner, K.E.; Read, J.W.; Saunders, J.; Cosman, P.H.; Rodriguez-Acevedo, O.; Jacombs, A.S.W.; Ibrahim, N.
15Apr-2019Relationship Between B-Vitamin Biomarkers and Dietary Intake with Apolipoprotein E є4 in Alzheimer's DiseaseSturm, Jonathan ; O'Brien, Bill ; Veysey, Martin ; D'Cunha, N.M.; Georgousopoulou, E.N.; Boyd, L.
1622-Feb-2024Primary neurolymphomatosis diagnosed by spinal nerve root biopsySaunders, Samantha Louise; Giang, Samantha M; Sriweerawanidchakun, Sangruthai; Schutz, Anna 
17Feb-2018Preoperative Botulinum toxin A enabling defect closure and laparoscopic repair of complex ventral herniaTomazini Martins, Rodrigo ; Rodriguez-Acevedo, O.; Elstner, K.E.; Jacombs, A.S.W.; Read, J.W.; Arduini, F.; Wehrhahm, M.; Craft, C.; Cosman, P.H.; Dardano, A.N.; Ibrahim, N.
18Aug-2016Predictors of health-related quality of life in community-dwelling stroke survivors: a cohort studySturm, Jonathan ; White, J.H.; Magin, P.; Attia, J.; McElduff, P.; Carter, G.
19Aug-2016Predictors of depression and anxiety in community dwelling stroke survivors: a cohort studySturm, Jonathan ; White, J.H.; Attia, J.; Carter, G.; Magin, P.
20Feb-2018Post-Stroke Sleep-Disordered Breathing—Pathophysiology and Therapy OptionsTomazini Martins, Rodrigo ; Stevens, D.; Mukherjee, S.; Vakulin, A.
21Apr-2020Post-dural puncture headache incidence after cerebrospinal fluid aspiration. A prospective observational studyTomazini Martins, Rodrigo ; Toson, B.; Souza, R.K.M.; Kowacs, P.A.
22Apr-2016Phenotypic insights into ADCY5-associated diseaseCrimmins, Denis ; Chang, F.C.; Westenberger, A.; Dale, R.C.; Smith, M.; Pall, H.C.; Perez-Duenas, B.; Grattan-Smith, P.; Ouvrier, R.A.; Mahant, N.; Hanna, B.C.; Hunter, M.; Lawson, J.A.; Max, D.; Sachdev, R.; Meyer, E.; Pryor, D.; Morris, J.G.; Munchau, A.; Grozeva, D.; Carss, K.J.; Raymond, L.; Kurian, M.A.; Klein, C.; Fung, V.S.
23Dec-2016Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case reportHeard, Robert ; Hwang, Yun Tae ; Aliaga, S.M.; Arpone, M.; Francis, D.; Li, X.; Chong, B.; Slater, H.R.; Rogers, C.; Bretherton, L.; Hunter, M.; Godler, D.E.
245-Mar-2023Painless progressive mononeuritis multiplex secondary to AML associated neuroleukemiosisNagaratnam, Sai ; Harinesan, Nimalan; Wijesinghe, Rajiv; Wong-Doo, Nicole; Lyons, Alison ; Morris, Katrina; Triplett, James 
2512-Jan-2024Onboarding of siponimod in secondary progressive multiple sclerosis patients in Australia: Novel, real-world evidence from the MSGo digital support programmeHardy, T A; Aouad, P; Barnett, M H; Blum, S; Broadley, S; Carroll, W M; Crimmins, Denis ; Griffiths, Dayna ; Hodgkinson, S; Lechner-Scott, J; Lee, A; Malhotra, R; McCombe, P; Parratt, J; Plummer, C; Van der Walt, A; Martel, K; Walker, R A
26Feb-2020No Evidence of the "Weekend Effect" in the Northern New South Wales Telestroke NetworkO'Brien, Bill ; Evans, James W ; Lillicrap, T.; Pinheiro, A.; Miteff, F.; Garcia-Bermejo, P.; Gangadharan, S.; Wellings, T.; Alanati, K.; Bivard, A.; Parsons, M.; Levi, C.; Garcia-Esperon, C.; Spratt, N.J.
27Nov-2011Never too oldTomazini Martins, Rodrigo ; de Souza, R.K.; da Rocha, S.F.; Sato, H.K.; Kowacs, P.A.
28Jul-2020The neuro-otology of Susac syndromeO'Brien, Bill ; Hardy, T.A; Taylor, R.L.; Qiu, J.; Gopinath, S.; Trewin, B.; Spring, P.J.; Shaffi, M.; Bolitho, S.J.; Garsia, R.J.; Roxburgh, R.; Mason, D.F.; Ip, J.; Chan, F.; Chen, L.; Wilson, I.; Beadnall, H.N.; Barnett, M.H.; Parratt, J.D.E.; Watson, J.D.G.; Welgampola, M.S.; Reddel, S.W.; Tsang, B.; Halmagyi, G.M.
29May-2021"More than words" - Longitudinal linguistic changes in the works of a writer diagnosed with semantic dementiaHwang, Yun Tae ; Strikwerda-Brown, C.; El-Omar, H.; Ramanan, S.; Hodges, John R; Burrell, J.R.; Piguet, O.; Irish, M.
30Sep-2016Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68Hwang, Yun Tae ; Dudding, T.; Aliaga, S.M.; Arpone, M.; Francis, D.; Li, X.; Slater, H.R.; Rogers, C.; Bretherton, L.; du Sart, D.; Heard, R.; Godler, D.E.
31Apr-2019Limitations of Electromyography in the Assessment of Abdominal Wall Muscle Contractility Following Botulinum Toxin A InjectionTomazini Martins, Rodrigo ; Elstner, K.E.; Skulina, C.; Rodriguez-Acevedo, O.; Read, J.W.; Rowe, D.B.; Ibrahim, N.
32Jun-2018Intravenous Thrombolysis May Not Improve Clinical Outcome of Acute Ischemic Stroke Patients Without a Baseline Vessel OcclusionO'Brien, Bill ; Tian, H.; Parsons, M.W.; Levi, C.R.; Cheng, X.; Aviv, R.I.; Spratt, N.J.; Kleinig, T.J.; Butcher, K.; Lin, L.; Zhang, J.; Dong, Q.; Chen, C.; Bivard, A.
33Aug-2017Hydrodisplacement of sural nerve for safety and efficacy of endovenous thermal ablation for small saphenous vein incompetenceTomazini Martins, Rodrigo ; Rodriguez-Acevedo, O.; Elstner, K.E.; Martinic, K.; Zea, A.; Diaz, J.; Arduini, F.; Hodgkinson, A.; Ibrahim, N.
34Feb-2019High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in AustraliaWhyte, Scott ; Kang, C.; Liang, C.; Ahmad, K.E.; Gu, Y.; Siow, S.F.; Colebatch, J.G.; Ng, K.; Cremer, P.D.; Corbett, A.J.; Davis, R.L.; Roscioli, T.; Cowley, M.J.; Park, J.S.; Sue, C.M.; Kumar, K.R.
35Jul-2024Genome sequencing reanalysis increases the diagnostic yield in dystoniaFellner, Avi; Wali, Gurusidheshwar M; Mahant, Neil; Grosz, Bianca R; Ellis, Melina; Narayanan, Ramesh K; Ng, Karl; Davis, Ryan L; Tchan, Michel C; Kotschet, Katya; Yeow, Dennis; Rudaks, Laura I; Siow, Sue-Faye; Wali, Gautam; Yiannikas, Con; Hobbs, Matthew; Copty, Joseph; Geaghan, Michael; Darveniza, Paul; Liang, Christina; Williams, Laura J; Chang, Florence C F; Morales-Briceño, Hugo; Tisch, Stephen; Hayes, Michael; Whyte, Scott ; Kummerfeld, Sarah; Kennerson, Marina L; Cowley, Mark J; Fung, Victor S C; Sue, Carolyn M; Kumar, Kishore R
362018Gait in normal pressure hydrocephalus: characteristics and effects of the CSF tap testTomazini Martins, Rodrigo ; Souza, R.K.M.; Rocha, S.F.B.; Kowacs, P.A.; Ramina, R.
375-Mar-2023Functional outcomes of ischaemic stroke patients with known Atrial Fibrillation not on therapeutic anticoagulationNagaratnam, Sai Adithya ; Edwards, Leon S ; Blair, Christopher ; Evans, James W ; O'Brien, Bill 
38Dec-2010The folic acid endophenotype and depression in an elderly populationNaumovski, Nenad ; Veysey, Martin ; Ng, Xiaowei ; Boyd, Lyndell ; Dufficy, Lisa ; Blades, Barbara ; Travers, Cheryl ; Lewis, Peter R ; Sturm, Jonathan ; Townley-Jones, Maureen ; Yates, Z.; Roach, Paul ; Lucock, M.
39May-2022Fibrocartilaginous embolism: an under-recognised cause of young spinal strokeNagaratnam, Sai Adithya ; Sturm, Jonathan ; Lam Kwong Lee, Raymond 
40May-2018Factors contributing to sex differences in functional outcomes and participation after strokeSturm, Jonathan ; Phan, H.T.; Blizzard, C.L.; Reeves, M.J.; Thrift, A.G.; Cadilhac, D.A.; Heeley, E.; Otahal, P.; Vemmos, K.; Anderson, C.; Parmar, P.; Krishnamurthi, R.; Barker-Collo, S.; Feigin, V.; Bejot, Y.; Cabral, N.L.; Carolei, A.; Sacco, S.; Chausson, N.; Olindo, S.; Rothwell, P.; Silva, C.; Correia, M.; Magalhaes, R.; Appelros, P.; Korv, J.; Vibo, R.; Minelli, C.
41Jul-2016Estimated GFR and the Effect of Intensive Blood Pressure Lowering After Acute Intracerebral HemorrhageSturm, Jonathan ; Zheng, D.; Sato, S.; Arima, H.; Heeley, E.; Delcourt, C.; Cao, Y.; Chalmers, J.; Anderson, C.
42Aug-2018Effects of morphine on respiratory load detection, load magnitude perception, and tactile sensation in obstructive sleep apneaTomazini Martins, Rodrigo ; Carberry, J.C.; Gandevia, S.C.; Butler, J.E.; Eckert, D.J.
43Feb-2020Effect of Intravenous Tenecteplase Dose on Cerebral Reperfusion Before Thrombectomy in Patients With Large Vessel Occlusion Ischemic Stroke: The EXTEND-IA TNK Part 2 Randomized Clinical TrialO'Brien, Bill ; Campbell, B.C.V.; Mitchell, P.J.; Churilov, L.; Yassi, N.; Kleinig, T.J.; Dowling, R.J.; Yan, B.; Bush, S.J.; Thijs, V.; Scroop, R.; Simpson, M.; Brooks, M.; Asadi, H.; Wu, T.Y.; Shah, D.G.; Wijeratne, T.; Zhao, H.; Alemseged, F.; Ng, F.; Bailey, P.; Rice, H.; de Villiers, L.; Dewey, H.M.; Choi, P.M.C.; Brown, H.; Redmond, K.; Leggett, D.; Fink, J.N.; Collecutt, W.; Kraemer, T.; Krause, Martin; Cordato, D.; Field, D.; Ma, H.; Clissold, B.; Miteff, F.; Clissold, A.; Cloud, G.C.; Bolitho, L.E.; Bonavia, L.; Bhattacharya, A.; Wright, A.; Mamun, A.; O'Rourke, F.; Worthington, J.; Wong, A.A.; Levi, C.R.; Bladin, C.F.; Sharma, G.; Desmond, P.M.; Parsons, M.W.; Donnan, G.A.; Davis, S.M.
44Mar-2018Effect of donepezil on transcranial magnetic stimulation parameters in Alzheimer's diseaseHwang, Yun Tae ; Rocchi, L.; Hammond, P.; Hardy, C.J.; Warren, J.D.; Ridha, B.H.; Rothwell, J.; Rossor, M.N.
45Mar-2022Diagnosis, differential diagnosis and misdiagnosis of Susac syndromeO'Brien, Bill ; Triplett, J.D.; Qiu, J.; Gopinath, S.; Trewin, B.; Spring, P.J.; Shaffi, M.; Ip, J.; Chan, F.; Chen, L.; Muller, C.; Beadnall, H.N.; Boggild, M.; Van der Walt, A.; Roxburgh, R.; Seery, N.; Kalincik, T.; Barnett, M.H.; Parratt, J.D.E.; Reddel, S.W.; Tsang, B.; Hardy, T.A.
4626-Feb-2024Dementia in Australia: Clinical recommendations post-diagnosisFoxe, David; D'Mello, Mirelle; Cheung, Sau Chi; Bowen, Julane; Piguet, Olivier; Hwang, Yun Tae 
47May-2019ClosureFast endovenous radiofrequency ablation for great saphenous vein and small saphenous vein incompetence: Efficacy and anatomical failure patternsTomazini Martins, Rodrigo ; Rodriguez-Acevedo, O.; Elstner, K.E.; Martinic, K.; Ibrahim, R.I.; Arduini, F.; Ibrahim, N.
482019Charles Bonnet Syndrome: Complete Remission of Visual Hallucinations with TrazodoneTomazini Martins, Rodrigo ; de Souza, R.K.M.; Kowacs, P.A.
49Nov-2021Case-Fatality and Functional Outcome after Subarachnoid Hemorrhage (SAH) in INternational STRoke oUtComes sTudy (INSTRUCT)Sturm, Jonathan ; Rehman, S.; Phan, H.T.; Reeves, M.J.; Thrift, A.G.; Cadilhac, D.A.; Breslin, M.; Callisaya, M.L.; Vemmos, K.; Parmar, P.; Krishnamurthi, R.V.; Barker-Collo, S.; Feigin, V.; Chausson, N.; Olindo, S.; Cabral, N.L.; Carolei, A.; Marini, C.; Degan, D.; Sacco, S.; Correia, M.; Appelros, P.; Kõrv, J.; Vibo, R.; Minelli, C.; Sposato, L.; Pandian, J.D.; Kaur, P.; Azarpazhooh, M.R.; Morovatdar, N.; Gall, S.
50Jul-2017Brainstem phenotype of cathepsin A-related arteriopathy with strokes and leukoencephalopathyHwang, Yun Tae ; Lakshmanan, R.; Davagnanam, I.; Thompson, A.G.B.; Lynch, D.S.; Houlden, H.; Bajaj, N.; Eriksson, S.H.; Bamiou, D.E.; Warren, J.D.
51Sep-2018Australian driving restrictions: how well do neurologists know them?Caruana, Patricia ; Hughes, A.R.; Lea, R.A.; Lueck, C.J.
52Jul-2020Air vs. Road Decision for Endovascular Clot Retrieval in a Rural Telestroke NetworkEvans, James W ; O'Brien, Bill ; Gangadharan, S.; Lillicrap, T.; Miteff, F.; Garcia-Bermejo, P.; Wellings, T.; Alanati, K.; Levi, C.; Parsons, M.W.; Bivard, A.; Garcia-Esperon, C.; Spratt, N.J.
53Feb-2022Acute disseminated encephalomyelitis with bilateral optic neuritis following ChAdOx1 COVID-19 vaccinationTae Hwang, Yun ; Lee, Raymond Lam Kwong ; Nagaratnam, Sai Adithya ; Heard, Robert ; Ferdi, A.C.; Leaney, J.

OrgUnit's Researchers publications
(Dept/Workgroup Publication)

Results 1-9 of 9 (Search time: 0.001 seconds).

PreviewIssue DateTitleAuthor(s)
1Feb-2022Acute disseminated encephalomyelitis with bilateral optic neuritis following ChAdOx1 COVID-19 vaccinationTae Hwang, Yun ; Lee, Raymond Lam Kwong ; Nagaratnam, Sai Adithya ; Heard, Robert ; Ferdi, A.C.; Leaney, J.
2Jan-2014Can Lower Risk Patients Presenting with Transient Ischaemic Attack be Safely Managed as Outpatients?Griffiths, D.; Sturm, Jonathan ; Heard, Robert ; Reyneke, Elizabeth ; Whyte, Scott ; Clarke, T.A.; O'Brien, Bill ; Crimmins, Denis 
3Sep-2021Carlos II of Spain, 'The Bewitched': cursed by aspartylglucosaminuria?Heard, Robert ; Martin, A.; Fung, V.S.C.
4Sep-2022Diagnostic Utility of Computed Tomography Perfusion in the Telestroke SettingArora, Kshitij; Gaekwad, Aaron; Evans, James W ; O'Brien, Bill ; Ang, Timothy; Garcia-Esperon, Carlos; Blair, Christopher ; Edwards, Leon S ; Chew, Beng L A; Delcourt, Candice; Spratt, Neil J; Parsons, Mark W; Butcher, Ken S
55-Mar-2023Functional outcomes of ischaemic stroke patients with known Atrial Fibrillation not on therapeutic anticoagulationNagaratnam, Sai Adithya ; Edwards, Leon S ; Blair, Christopher ; Evans, James W ; O'Brien, Bill 
612-Jan-2024Onboarding of siponimod in secondary progressive multiple sclerosis patients in Australia: Novel, real-world evidence from the MSGo digital support programmeHardy, T A; Aouad, P; Barnett, M H; Blum, S; Broadley, S; Carroll, W M; Crimmins, Denis ; Griffiths, Dayna ; Hodgkinson, S; Lechner-Scott, J; Lee, A; Malhotra, R; McCombe, P; Parratt, J; Plummer, C; Van der Walt, A; Martel, K; Walker, R A
75-Mar-2023Painless progressive mononeuritis multiplex secondary to AML associated neuroleukemiosisNagaratnam, Sai ; Harinesan, Nimalan; Wijesinghe, Rajiv; Wong-Doo, Nicole; Lyons, Alison ; Morris, Katrina; Triplett, James 
8Dec-2016Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case reportHeard, Robert ; Hwang, Yun Tae ; Aliaga, S.M.; Arpone, M.; Francis, D.; Li, X.; Chong, B.; Slater, H.R.; Rogers, C.; Bretherton, L.; Hunter, M.; Godler, D.E.
9Sep-2023Very late-onset limb-girdle congenital myasthenic syndrome due to GFPT1 mutationEl-Wahsh, Shadi; Wijesinghe, Rajiv; Qiu, Jessica; Heard, Robert ; Stoll, Marion; Reddel, Stephen