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A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K. Hicks D, et al. Among authors: radunovic a. Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294. Brain. 2011. PMID: 21186264 Free PMC article.
Diagnosing ALS: the Gold Coast criteria and the role of EMG.
Turner MR; UK MND Clinical Studies Group. Turner MR, et al. Pract Neurol. 2022 Jun;22(3):176-178. doi: 10.1136/practneurol-2021-003256. Epub 2022 Jan 6. Pract Neurol. 2022. PMID: 34992096 Free PMC article. No abstract available.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Brain. 2024 Jan 9:awad436. doi: 10.1093/brain/awad436. Online ahead of print. Brain. 2024. PMID: 38193360
Participant experiences of guided self-help Acceptance and Commitment Therapy for improving quality of life in muscle disease: a nested qualitative study within the ACTMus randomized controlled trial.
Edwards V, Vari C, Rose M, Graham CD, O'Connell N, Taylor E, McCracken LM, Radunovic A, Rakowicz W, Norton S, Chalder T. Edwards V, et al. Among authors: radunovic a. Front Psychol. 2023 Dec 1;14:1233526. doi: 10.3389/fpsyg.2023.1233526. eCollection 2023. Front Psychol. 2023. PMID: 38106380 Free PMC article.
Multislice computerized tomography coronary angiography can be a comparable tool to intravascular ultrasound in evaluating "true" coronary artery bifurcations.
Radunović A, Vidaković R, Timčić S, Odanović N, Stefanović M, Lipovac M, Krupniković K, Mandić A, Kojić D, Tomović M, Ilić I. Radunović A, et al. Front Cardiovasc Med. 2023 Nov 6;10:1292517. doi: 10.3389/fcvm.2023.1292517. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 38028491 Free PMC article.
Drugs for spontaneous coronary dissection: a few untrusted options.
Ilic I, Radunovic A, Timcic S, Odanovic N, Radoicic D, Dukuljev N, Krljanac G, Otasevic P, Apostolovic S. Ilic I, et al. Among authors: radunovic a. Front Cardiovasc Med. 2023 Nov 10;10:1275725. doi: 10.3389/fcvm.2023.1275725. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 38028484 Free PMC article. Review.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: radunovic a. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Acceptance and Commitment Therapy for people living with motor neuron disease: an uncontrolled feasibility study.
Gould RL, Rawlinson C, Thompson B, Weeks K, Gossage-Worrall R, Cantrill H, Serfaty MA, Graham CD, McCracken LM, White D, Howard RJ, Bursnall M, Bradburn M, Al-Chalabi A, Orrell R, Chhetri SK, Noad R, Radunovic A, Williams T, Young CA, Dick D, Lawrence V, Goldstein LH, Young T, Ealing J, McLeod H, Williams N, Weatherly H, Cave R, Chiwera T, Pagnini F, Cooper C, Shaw PJ, McDermott CJ; and the COMMEND Collaboration Group. Gould RL, et al. Among authors: radunovic a. Pilot Feasibility Stud. 2023 Jul 7;9(1):116. doi: 10.1186/s40814-023-01354-7. Pilot Feasibility Stud. 2023. PMID: 37420261 Free PMC article.
70 results