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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 2
1976 3
1979 1
1980 3
1982 1
1984 1
1986 1
1987 1
1990 4
1991 2
1992 5
1993 10
1994 9
1995 18
1996 12
1997 14
1998 12
1999 15
2000 13
2001 9
2002 18
2003 18
2004 12
2005 17
2006 36
2007 30
2008 29
2009 29
2010 27
2011 30
2012 41
2013 47
2014 31
2015 41
2016 30
2017 38
2018 44
2019 23
2020 26
2021 40
2022 31
2023 42
2024 10

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746 results

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Page 1
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A. Kacher R, et al. Among authors: durr a. Am J Hum Genet. 2024 May 2;111(5):913-926. doi: 10.1016/j.ajhg.2024.03.015. Epub 2024 Apr 15. Am J Hum Genet. 2024. PMID: 38626762 Free PMC article.
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes.
Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Alex R, Paul De Deyn P, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, G de Yébenes J, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; PSP genetics study group; Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, Lee WP. Wang H, et al. Among authors: durr a. medRxiv [Preprint]. 2024 Feb 28:2024.02.26.24303379. doi: 10.1101/2024.02.26.24303379. medRxiv. 2024. PMID: 38464214 Free PMC article. Preprint.
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
Rezende TJR, Adanyaguh I, Barsottini OGP, Bender B, Cendes F, Coutinho L, Deistung A, Dogan I, Durr A, Fernandez-Ruiz J, Göricke SL, Grisoli M, Hernandez-Castillo CR, Lenglet C, Mariotti C, Martinez ARM, Massuyama BK, Mochel F, Nanetti L, Nigri A, Ono SE, Öz G, Pedroso JL, Reetz K, Synofzik M, Teive H, Thomopoulos SI, Thompson PM, Timmann D, van de Warrenburg BPC, van Gaalen J, França MC Jr, Harding IH. Rezende TJR, et al. Among authors: durr a. J Neurol Neurosurg Psychiatry. 2024 Feb 21:jnnp-2023-332696. doi: 10.1136/jnnp-2023-332696. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38383154 Free article.
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.
Heide S, Davoine CS, Cunha P, Scherer-Gagou C, Keren B, Stevanin G, Charles P, Heron D, Brice A, Durr A. Heide S, et al. Among authors: durr a. Neurol Genet. 2023 Oct 19;9(6):e200096. doi: 10.1212/NXG.0000000000200096. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38235039 Free PMC article.
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy.
Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Bastard NL, Gearing M, Kaat LD, Swieten JCV, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Deerlin VMV, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; PSP genetics study group; Dickson DW, Höglinger GU, Schellenberg GD, Geschwind DH, Lee WP. Wang H, et al. Among authors: durr a. medRxiv [Preprint]. 2024 Jan 30:2023.12.28.23300612. doi: 10.1101/2023.12.28.23300612. medRxiv. 2024. PMID: 38234807 Free PMC article. Preprint.
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 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
746 results