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| | Publication Year | Title | Author(s) |
| 41 | Jul-2016 | Gastrocnemius and soleus spasticity and muscle length in Friedreich's ataxia. | Milne, Sarah C; Corben, Louise A; Yiu, Eppie; Delatycki, Martin B ; Georgiou-Karistianis, Nellie |
| 42 | 1-Jun-2016 | Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy. | Crombie, Duncan E; Pera, Martin F; Delatycki, Martin B ; Pébay, Alice |
| 43 | Jun-2016 | Congenital biparietal foramina presenting with multiple concussions. | Abdul Jalil, Muhammad Fahmi; Russell, Jeremy; Delatycki, Martin B ; Gonzalvo, Augusto |
| 44 | Mar-2016 | Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication. | Hodgson, Jan; Metcalfe, Sylvia; Gaff, Clara; Donath, Susan; Delatycki, Martin B ; Winship, Ingrid; Skene, Loane; Aitken, MaryAnne; Halliday, Jane |
| 45 | Jan-2016 | Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. | Sim, Joe C; Scerri, Thomas; Fanjul-Fernández, Miriam; Riseley, Jessica R; Gillies, Greta; Pope, Kate; van Roozendaal, Hanna; Heng, Julian I; Mandelstam, Simone A; McGillivray, George; MacGregor, Duncan; Kannan, Lakshminarayanan; Maixner, Wirginia; Harvey, A Simon; Amor, David J; Delatycki, Martin B ; Crino, Peter B; Bahlo, Melanie; Lockhart, Paul J; Leventer, Richard J |
| 46 | Jan-2016 | Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: the IMAGE-FRDA study | Harding, Ian H; Corben, Louise A; Storey, Elsdon; Egan, Gary F; Stagnitti, Monique R; Poudel, Govinda R; Delatycki, Martin B ; Georgiou-Karistianis, Nellie |
| 47 | Dec-2015 | "Suddenly Having two Positive People who are Carriers is a Whole New Thing" - Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia. | Ioannou, Liane; Delatycki, Martin B ; Massie, John; Hodgson, Jan; Lewis, Sharon |
| 48 | Oct-2015 | "Both Sides of the Wheelchair": the views of individuals with, and parents of individuals with Friedreich Ataxia regarding pre-symptomatic testing of minors | Lowe, Georgia C; Corben, Louise A; Duncan, Rony E; Yoon, Grace; Delatycki, Martin B |
| 49 | 12-Aug-2015 | Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron). | Ong, Sim Yee; Dolling, Lara; Dixon, Jeannette L; Nicoll, Amanda J; Gurrin, Lyle C; Wolthuizen, Michelle; Wood, Erica M; Anderson, Greg J; Ramm, Grant A; Allen, Katrina J; Olynyk, John K; Crawford, Darrell; Kava, Jennifer; Ramm, Louise E; Gow, Paul J ; Durrant, Simon; Powell, Lawrie W; Delatycki, Martin B |
| 50 | 15-Apr-2015 | Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. | Leventer, Richard J; Scerri, Thomas; Marsh, Ashley P L; Pope, Kate; Gillies, Greta; Maixner, Wirginia; MacGregor, Duncan; Harvey, A Simon; Delatycki, Martin B ; Amor, David John; Crino, Peter B; Bahlo, Melanie; Lockhart, Paul J |
| 51 | 1-Apr-2015 | Reduced mortality due to phlebotomy in moderately iron-loaded HFE haemochromatosis? The need for clinical trials. | Delatycki, Martin B ; Gurrin, Lyle C; Ong, Sim Yee; Ramm, Grant A; Anderson, Gregory J; Olynyk, John K; Allen, Katie J; Nicoll, Amanda J; Powell, Lawrie W |
| 52 | 21-Mar-2015 | A longitudinal study of the Friedreich Ataxia Impact Scale. | Tai, Geneieve; Yiu, Eppie M; Corben, Louise A; Delatycki, Martin B |
| 53 | 18-Mar-2015 | An autosomal dominant form of non-cirrhotic portal hypertension. | Majumdar, Avik; Delatycki, Martin B ; Crowley, Peter; Lokan, Julie ; Tharian, Benjamin; Angus, Peter W ; Gow, Paul J |
| 54 | 21-Jan-2015 | Tay-Sachs disease: current perspectives from Australia. | Lew, Raelia M; Burnett, Leslie; Proos, Anné L; Delatycki, Martin B |
| 55 | 9-Jan-2015 | Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A. | Yiu, Eppie M; Brockley, Cain R; Lee, Katherine J; Carroll, Kate; de Valle, Katy; Kennedy, Rachel; Rao, Padma; Delatycki, Martin B ; Ryan, Monique M |
| 56 | 2-Jan-2015 | Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined? | Russell, Nicholas ; Delatycki, Martin B ; Grossmann, Mathis |
| 57 | 2015 | "I'm scared of being like mum": The experience of adolescents living in families with huntington disease | Mand, Cara M; Gillam, Lynn; Duncan, Rony E; Delatycki, Martin B |
| 58 | 1-Dec-2014 | Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. | Delatycki, Martin B ; Burke, Jo; Christie, Louise; Collins, Felicity; Gabbett, Michael; George, Peter; Haan, Eric; Ioannou, Liane; Martin, Nicole; McKenzie, Fiona; O'Leary, Peter; Scoble-Williams, Nicole; Turner, Gillian; Massie, John |
| 59 | 30-Nov-2014 | Consensus clinical management guidelines for Friedreich ataxia. | Corben, Louise A; Lynch, David; Pandolfo, Massimo; Schulz, Jörg B; Delatycki, Martin B |
| 60 | 26-Nov-2014 | Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. | Wilson, Gabrielle R; Sim, Joe C H; McLean, Catriona A; Giannandrea, Maila; Galea, Charles A; Riseley, Jessica R; Stephenson, Sarah E M; Fitzpatrick, Elizabeth; Haas, Stefan A; Pope, Kate; Hogan, Kirk J; Gregg, Ronald G; Bromhead, Catherine J; Wargowski, David S; Lawrence, Christopher H; James, Paul A; Churchyard, Andrew; Gao, Yujing; Phelan, Dean G; Gillies, Greta; Salce, Nicholas; Stanford, Lynn; Marsh, Ashley P L; Mignogna, Maria L; Hayflick, Susan J; Leventer, Richard J; Delatycki, Martin B ; Mellick, George D; Kalscheuer, Vera M; D'Adamo, Patrizia; Bahlo, Melanie; Amor, David John; Lockhart, Paul J |
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