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

Year Number of Results
1993 1
1994 6
1995 6
1996 6
1997 1
1998 1
1999 2
2002 2
2003 2
2006 2
2007 1
2008 1
2009 1
2019 1
2024 0

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PubMed (cited) for id: 607462

31 results

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Page 1
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST. Palmer EE, et al. Am J Hum Genet. 2019 Mar 7;104(3):542-552. doi: 10.1016/j.ajhg.2019.01.013. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827498 Free PMC article.
Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice.
Sato T, Miura M, Yamada M, Yoshida T, Wood JD, Yazawa I, Masuda M, Suzuki T, Shin RM, Yau HJ, Liu FC, Shimohata T, Onodera O, Ross CA, Katsuki M, Takahashi H, Kano M, Aosaki T, Tsuji S. Sato T, et al. Hum Mol Genet. 2009 Feb 15;18(4):723-36. doi: 10.1093/hmg/ddn403. Epub 2008 Nov 27. Hum Mol Genet. 2009. PMID: 19039037 Free PMC article.
Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.
Sato T, Oyake M, Nakamura K, Nakao K, Fukusima Y, Onodera O, Igarashi S, Takano H, Kikugawa K, Ishida Y, Shimohata T, Koide R, Ikeuchi T, Tanaka H, Futamura N, Matsumura R, Takayanagi T, Tanaka F, Sobue G, Komure O, Takahashi M, Sano A, Ichikawa Y, Goto J, Kanazawa I, et al. Sato T, et al. Hum Mol Genet. 1999 Jan;8(1):99-106. doi: 10.1093/hmg/8.1.99. Hum Mol Genet. 1999. PMID: 9887337
31 results