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Page 1
Friedreich Ataxia.
Bidichandani SI, Delatycki MB, Napierala M, Duquette A. Bidichandani SI, et al. Among authors: delatycki mb. 1998 Dec 18 [updated 2025 Jun 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1998 Dec 18 [updated 2025 Jun 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301458 Free Books & Documents. Review.
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.
Davies KC, Rafehi H, Fearnley LG, Snell P, Gillies G, Field TA, Halmágyi GM, Kumar KR, Pope K, Smyth R, Tomlinson SE, Tisch S, Tang CC, Watson SRD, Wellings T, Wu KHC, Szmulewicz DJ, Delatycki MB, Bahlo M, Lockhart PJ. Davies KC, et al. Among authors: delatycki mb. Cerebellum. 2025 Jun 7;24(4):111. doi: 10.1007/s12311-025-01867-2. Cerebellum. 2025. PMID: 40481300
Correction: A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.
Georgiou-Karistianis N, Corben LA, Reetz K, Adanyeguh IM, Corti M, Deelchand DK, Delatycki MB, Dogan I, Evans R, Farmer J, França MC, Gaetz W, Harding IH, Harris KS, Hersch S, Joules R, Joers JJ, Krishnan ML, Lax M, Lock EF, Lynch D, Mareci T, Gamage SM, Pandolfo M, Papoutsi M, Rezende TJR, Roberts TPL, Rosenberg JT, Romanzetti S, Schulz JB, Schilling T, Schwarz AJ, Subramony S, Yao B, Zicha S, Lenglet C, Henry PG. Georgiou-Karistianis N, et al. Among authors: delatycki mb. PLoS One. 2025 May 22;20(5):e0324751. doi: 10.1371/journal.pone.0324751. eCollection 2025. PLoS One. 2025. PMID: 40403010 Free PMC article.
Effect of creatine monohydrate on motor function in children with facioscapulohumeral muscular dystrophy: A multicenter, randomized, double-blind placebo-controlled crossover trial.
Woodcock IR, de Valle K, Cairns A, Davidson ZE, Kean M, Varma N, Grobler A, Metz D, Carroll K, Dilek N, Heatwole C, Ryan MM, Delatycki MB, Yiu EM. Woodcock IR, et al. Among authors: delatycki mb. Pharmacotherapy. 2025 Jun;45(6):341-351. doi: 10.1002/phar.70025. Epub 2025 May 14. Pharmacotherapy. 2025. PMID: 40366059 Free PMC article. Clinical Trial.
Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy.
Kirk E, Mundy L, Lee E, Lundie B, Laing N, Archibald AD, Newson AJ, Mina K, Carpenter K, Neas K, King R, Ferrie M, Lunke S, Boughtwood T, Delatycki MB, Emery J, Mountain H, Hui L, Dive L, Farrar MA, Massie J. Kirk E, et al. Among authors: delatycki mb. Pathology. 2025 Mar 26:S0031-3025(25)00123-0. doi: 10.1016/j.pathol.2025.02.004. Online ahead of print. Pathology. 2025. PMID: 40318963 No abstract available.
Neuroimaging Biomarkers for Friedreich Ataxia: A Cross-Sectional Analysis of the TRACK-FA Study.
Georgiou-Karistianis N, Corben LA, Lock EF, Bujalka H, Adanyeguh I, Corti M, Deelchand DK, Delatycki MB, Dogan I, Farmer J, França MC Jr, Gabay AS, Gaetz W, Harding IH, Joers J, Lax MA, Li J, Lynch DR, Mareci TH, Martinez ARM, Pandolfo M, Papoutsi M, Parker RG, Reetz K, Rezende TJR, Roberts TP, Romanzetti S, Rudko DA, Saha S, Schulz JB, Subramony SH, Supramaniam VG, Lenglet C, Henry PG. Georgiou-Karistianis N, et al. Among authors: delatycki mb. Ann Neurol. 2025 Mar 22. doi: 10.1002/ana.27237. Online ahead of print. Ann Neurol. 2025. PMID: 40119735
Correction: A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.
Georgiou-Karistianis N, Corben LA, Reetz K, Adanyeguh IM, Corti M, Deelchand DK, Delatycki MB, Dogan I, Evans R, Farmer J, França MC, Gaetz W, Harding IH, Harris KS, Hersch S, Joules R, Joers JJ, Krishnan ML, Lax M, Lock EF, Lynch D, Mareci T, Muthuhetti Gamage S, Pandolfo M, Papoutsi M, Rezende TJR, Roberts TPL, Rosenberg JT, Romanzetti S, Schulz JB, Schilling T, Schwarz AJ, Subramony S, Yao B, Zicha S, Lenglet C, Henry PG. Georgiou-Karistianis N, et al. Among authors: delatycki mb. PLoS One. 2025 Mar 18;20(3):e0320683. doi: 10.1371/journal.pone.0320683. eCollection 2025. PLoS One. 2025. PMID: 40100780 Free PMC article.
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.
Rafehi H, Fearnley LG, Read J, Snell P, Davies KC, Scott L, Gillies G, Thompson GC, Field TA, Eldo A, Bodek S, Butler E, Chen L, Drago J, Goel H, Hackett A, Halmagyi GM, Hannaford A, Kotschet K, Kumar KR, Kumble S, Lee-Archer M, Malhotra A, Paine M, Poon M, Pope K, Reardon K, Ring S, Ronan A, Silsby M, Smyth R, Stutterd C, Wallis M, Waterston J, Wellings T, West K, Wools C, Wu KHC, Szmulewicz DJ, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: delatycki mb. Genome Res. 2025 Apr 14;35(4):769-785. doi: 10.1101/gr.279634.124. Genome Res. 2025. PMID: 40015980
486 results