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

Year Number of Results
1993 2
2002 12
2003 12
2004 8
2005 13
2006 17
2007 23
2008 16
2009 20
2010 24
2011 23
2012 32
2013 37
2014 27
2015 35
2016 27
2017 30
2018 36
2019 15
2020 19
2021 34
2022 26
2023 36
2024 10

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476 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 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.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Méreaux JL, et al. Among authors: durr a. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
476 results