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107 results

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Page 1
Subthalamic nucleus shows opposite functional connectivity pattern in Huntington's and Parkinson's disease.
Evangelisti S, Boessenkool S, Pflanz CP, Basting R, Betts JF, Jenkinson M, Clare S, Muhammed K, LeHeron C, Armstrong R, Klein JC, Husain M, Nemeth AH, Hu MT, Douaud G. Evangelisti S, et al. Among authors: nemeth ah. Brain Commun. 2023 Dec 6;5(6):fcad282. doi: 10.1093/braincomms/fcad282. eCollection 2023. Brain Commun. 2023. PMID: 38075949 Free PMC article.
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: nemeth ah. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
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.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: nemeth ah. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.
Thomas-Black G, Altmann DR, Crook H, Solanky N, Carrasco FP, Battiston M, Grussu F, Yiannakas MC, Kanber B, Jolly JK, Brett J, Downes SM, Moran M, Chan PK, Adewunmi E, Gandini Wheeler-Kingshott CAM, Németh AH, Festenstein R, Bremner F, Giunti P. Thomas-Black G, et al. Among authors: nemeth ah. Mov Disord. 2023 Jun;38(6):959-969. doi: 10.1002/mds.29277. Epub 2022 Nov 25. Mov Disord. 2023. PMID: 36433650
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M, Abdullah UB, Bush SJ, Wood KA, Ghaffari S, Giannoulatou E, Koelling N, Maher GJ, Thibaut LM, Williams J, Blair EM, Kelly FB, Bloss A, Burkitt-Wright E, Canham N, Deng AT, Dixit A, Eason J, Elmslie F, Gardham A, Hay E, Holder M, Homfray T, Hurst JA, Johnson D, Jones WD, Kini U, Kivuva E, Kumar A, Lees MM, Leitch HG, Morton JEV, Németh AH, Ramachandrappa S, Saunders K, Shears DJ, Side L, Splitt M, Stewart A, Stewart H, Suri M, Clouston P, Davies RW, Wilkie AOM, Goriely A. Bernkopf M, et al. Among authors: nemeth ah. Nat Commun. 2023 Feb 15;14(1):853. doi: 10.1038/s41467-023-36606-w. Nat Commun. 2023. PMID: 36792598 Free PMC article.
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Ilg W, Milne S, Schmitz-Hübsch T, Alcock L, Beichert L, Bertini E, Mohamed Ibrahim N, Dawes H, Gomez CM, Hanagasi H, Kinnunen KM, Minnerop M, Németh AH, Newman J, Ng YS, Rentz C, Samanci B, Shah VV, Summa S, Vasco G, McNames J, Horak FB; Ataxia Global Initiative (AGI) working group Digital Motor Biomarkers. Ilg W, et al. Among authors: nemeth ah. Cerebellum. 2023 Nov 13. doi: 10.1007/s12311-023-01625-2. Online ahead of print. Cerebellum. 2023. PMID: 37955812 Review.
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.
Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Dankova M, Traschütz A, Tarnutzer AA. Garces P, et al. Among authors: nemeth ah. Cerebellum. 2024 Jun;23(3):896-911. doi: 10.1007/s12311-023-01559-9. Epub 2023 Apr 28. Cerebellum. 2024. PMID: 37117990 Free PMC article.
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Németh AH, Antoniades CA, Dukart J, Minnerop M, Rentz C, Schuman BJ, van de Warrenburg B, Willemse I, Bertini E, Gupta AS, de Mello Monteiro CB, Almoajil H, Quinn L, Perlman SB, Horak F, Ilg W, Traschütz A, Vogel AP, Dawes H; AGI Digital-Motor Biomarkers Working Group. Németh AH, et al. Cerebellum. 2024 Jun;23(3):912-923. doi: 10.1007/s12311-023-01608-3. Epub 2023 Nov 28. Cerebellum. 2024. PMID: 38015365 Free PMC article. Review.
107 results