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Page 1
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.
Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Januário C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Prudencio M, et al. Among authors: giunti p. Sci Transl Med. 2020 Oct 21;12(566):eabb7086. doi: 10.1126/scitranslmed.abb7086. Sci Transl Med. 2020. PMID: 33087504 Free PMC article.
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network; Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Tezenas du Montcel S, et al. Among authors: giunti p. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. Brain. 2014. PMID: 24972706 Free PMC article.
Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.
Garcia-Moreno H, Fassihi H, Sarkany RPE, Phukan J, Warner T, Lehmann AR, Giunti P. Garcia-Moreno H, et al. Among authors: giunti p. Ann Clin Transl Neurol. 2017 Dec 4;5(1):102-108. doi: 10.1002/acn3.511. eCollection 2018 Jan. Ann Clin Transl Neurol. 2017. PMID: 29376097 Free PMC article.
Plasma Markers of Neurodegeneration Are Raised in Friedreich's Ataxia.
Zeitlberger AM, Thomas-Black G, Garcia-Moreno H, Foiani M, Heslegrave AJ, Zetterberg H, Giunti P. Zeitlberger AM, et al. Among authors: giunti p. Front Cell Neurosci. 2018 Oct 30;12:366. doi: 10.3389/fncel.2018.00366. eCollection 2018. Front Cell Neurosci. 2018. PMID: 30425621 Free PMC article.
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Nethisinghe S, Lim WN, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney MG, Labrum R, Cervera C, Houlden H, Rosser E, Limousin P, Kennedy A, Lunn MP, Bhatia KP, Wood NW, Hardy J, Polke JM, Veneziano L, Brusco A, Davis MB, Giunti P. Nethisinghe S, et al. Among authors: giunti p. Front Cell Neurosci. 2018 Nov 23;12:429. doi: 10.3389/fncel.2018.00429. eCollection 2018. Front Cell Neurosci. 2018. PMID: 30532692 Free PMC article.
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.
Wilke C, Haas E, Reetz K, Faber J, Garcia-Moreno H, Santana MM, van de Warrenburg B, Hengel H, Lima M, Filla A, Durr A, Melegh B, Masciullo M, Infante J, Giunti P, Neumann M, de Vries J, Pereira de Almeida L, Rakowicz M, Jacobi H, Schüle R, Kaeser SA, Kuhle J, Klockgether T, Schöls L; SCA3 neurofilament study group; Barro C, Hübener-Schmid J, Synofzik M. Wilke C, et al. Among authors: giunti p. EMBO Mol Med. 2020 Jul 7;12(7):e11803. doi: 10.15252/emmm.201911803. Epub 2020 Jun 8. EMBO Mol Med. 2020. PMID: 32510847 Free PMC article.
Lower urinary tract and bowel dysfunction in spinocerebellar ataxias.
Afonso Ribeiro J, Simeoni S, De Min L, Uchiyama T, Tung Lo Y, Solanky N, Garcia-Moreno H, Giunti P, Panicker JN. Afonso Ribeiro J, et al. Among authors: giunti p. Ann Clin Transl Neurol. 2021 Feb;8(2):321-331. doi: 10.1002/acn3.51266. Epub 2020 Dec 18. Ann Clin Transl Neurol. 2021. PMID: 33338328 Free PMC article.
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
Faber J, Schaprian T, Berkan K, Reetz K, França MC Jr, de Rezende TJR, Hong J, Liao W, van de Warrenburg B, van Gaalen J, Durr A, Mochel F, Giunti P, Garcia-Moreno H, Schoels L, Hengel H, Synofzik M, Bender B, Oz G, Joers J, de Vries JJ, Kang JS, Timmann-Braun D, Jacobi H, Infante J, Joules R, Romanzetti S, Diedrichsen J, Schmid M, Wolz R, Klockgether T. Faber J, et al. Among authors: giunti p. Mov Disord. 2021 Oct;36(10):2273-2281. doi: 10.1002/mds.28610. Epub 2021 May 5. Mov Disord. 2021. PMID: 33951232 Free PMC article.
Correction to: DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.
Chaudhry A, Athanasiou-Fragkouli A, Garcia-Moreno H, Abadias SP, Greenfield J, Shiloh-Malawsky Y, Giunti P, Houlden H. Chaudhry A, et al. Among authors: giunti p. J Neurol. 2021 Aug;268(8):3042. doi: 10.1007/s00415-021-10644-0. J Neurol. 2021. PMID: 34152486 Free PMC article. No abstract available.
217 results