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

Year Number of Results
1947 1
1948 2
1949 1
1951 2
1952 1
1954 2
1955 1
1958 3
1963 1
1964 1
1965 1
1966 2
1967 4
1968 4
1969 3
1970 5
1971 5
1972 2
1973 2
1974 2
1975 4
1976 3
1977 3
1978 3
1979 4
1980 4
1981 4
1982 4
1983 4
1984 3
1985 2
1986 3
1987 7
1988 2
1989 1
1990 5
1991 5
1992 6
1993 4
1994 4
1995 7
1996 11
1997 13
1998 15
1999 6
2000 14
2001 11
2002 14
2003 15
2004 27
2005 17
2006 26
2007 31
2008 25
2009 28
2010 40
2011 32
2012 44
2013 43
2014 47
2015 64
2016 58
2017 44
2018 65
2019 59
2020 60
2021 42
2022 45
2023 33
2024 17

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961 results

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Page 1
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.
Sung AY, Guerra RM, Steenberge LH, Alston CL, Murayama K, Okazaki Y, Shimura M, Prokisch H, Ghezzi D, Torraco A, Carrozzo R, Rötig A, Taylor RW, Keck JL, Pagliarini DJ. Sung AY, et al. Among authors: taylor rw. Nat Metab. 2024 May 8. doi: 10.1038/s42255-024-01039-2. Online ahead of print. Nat Metab. 2024. PMID: 38720117
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: taylor rw. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
Non-negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue.
Alix JJP, Plesia M, Schooling CN, Dudgeon AP, Kendall CA, Kadirkamanathan V, McDermott CJ, Gorman GS, Taylor RW, Mead RJ, Shaw PJ, Day JC. Alix JJP, et al. Among authors: taylor rw. J Raman Spectrosc. 2023 Mar;54(3):258-268. doi: 10.1002/jrs.6480. Epub 2022 Dec 22. J Raman Spectrosc. 2023. PMID: 38505661 Free PMC article.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: taylor rw. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
ATH-1105, a small-molecule positive modulator of the neurotrophic HGF system, is neuroprotective, preserves neuromotor function, and extends survival in preclinical models of ALS.
Berthiaume AA, Reda SM, Kleist KN, Setti SE, Wu W, Johnston JL, Taylor RW, Stein LR, Moebius HJ, Church KJ. Berthiaume AA, et al. Among authors: taylor rw. Front Neurosci. 2024 Feb 8;18:1348157. doi: 10.3389/fnins.2024.1348157. eCollection 2024. Front Neurosci. 2024. PMID: 38389786 Free PMC article.
961 results