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| | Publication Year | Title | Author(s) |
| 41 | 30-Oct-2016 | Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed? | Stark, Zornitza; Wallaca, Jane; Gillam, Lynn; Burgess, Matthew; Delatycki, Martin B |
| 42 | 19-Jul-2016 | Huntington disease: More common than you think? | Delatycki, Martin B ; Bandmann, Oliver |
| 43 | 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 |
| 44 | 1-Jun-2016 | Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy. | Crombie, Duncan E; Pera, Martin F; Delatycki, Martin B ; Pébay, Alice |
| 45 | Jun-2016 | Congenital biparietal foramina presenting with multiple concussions. | Abdul Jalil, Muhammad Fahmi; Russell, Jeremy; Delatycki, Martin B ; Gonzalvo, Augusto |
| 46 | 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 |
| 47 | Mar-2016 | EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy | Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart GW; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionsi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Kölker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F; Manchester, David; Boyer, Philip J; Manzur, Adnan Y; Lourenco, Charles Marques; Pilz, Daniela T; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K; Rogers, R Curtis; Ryan, Monique M; Brown, Natasha J; McLean, Catriona A; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A; Zenker, Martin; Mohammed, Shehla; Fanto, Manolis; Gautel, Mathias; Jungbluth, Heinz |
| 48 | 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 |
| 49 | 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 |
| 50 | Jan-2016 | Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations | Miyake, N; Tsurusaki, Y; Koshimizu, E; Okamoto, N; Kosho, T; Brown, Natasha J; Tan, TY; Yap, PJ; Suzumura, H; Tanaka, T; Nagai, T; Nakashima, M; Saitsu, H; Niikawa, N; Matsumoto, N |
| 51 | 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 |
| 52 | 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 |
| 53 | 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 |
| 54 | 21-Mar-2015 | A longitudinal study of the Friedreich Ataxia Impact Scale. | Tai, Geneieve; Yiu, Eppie M; Corben, Louise A; Delatycki, Martin B |
| 55 | 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 |
| 56 | 28-Sep-2014 | Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. | Lessel, Davor; Vaz, Bruno; Halder, Swagata; Lockhart, Paul J; Marinovic-Terzic, Ivana; Lopez-Mosqueda, Jaime; Philipp, Melanie; Sim, Joe C H; Smith, Katherine R; Oehler, Judith; Cabrera, Elisa; Freire, Raimundo; Pope, Kate; Nahid, Amsha; Norris, Fiona; Leventer, Richard J; Delatycki, Martin B ; Barbi, Gotthold; von Ameln, Simon; Högel, Josef; Degoricija, Marina; Fertig, Regina; Burkhalter, Martin D; Hofmann, Kay; Thiele, Holger; Altmüller, Janine; Nürnberg, Gudrun; Nürnberg, Peter; Bahlo, Melanie; Martin, George M; Aalfs, Cora M; Oshima, Junko; Terzic, Janos; Amor, David John; Dikic, Ivan; Ramadan, Kristijan; Kubisch, Christian |
