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Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Orimo K, Mitsui J, Matsukawa T, Tanaka M, Nomoto J, Ishiura H, Omae Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Toda T, Tsuji S. Orimo K, et al. J Hum Genet. 2024 Dec;69(12):613-621. doi: 10.1038/s10038-024-01266-1. Epub 2024 Jul 18. J Hum Genet. 2024. PMID: 39020124 Free PMC article.
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Orimo K, Mitsui J, Matsukawa T, Tanaka M, Nomoto J, Ishiura H, Omae Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Toda T, Tsuji S. Orimo K, et al. J Hum Genet. 2024 Dec;69(12):679-680. doi: 10.1038/s10038-024-01293-y. J Hum Genet. 2024. PMID: 39304720 Free PMC article. No abstract available.
Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.
Kakumoto T, Orimo K, Matsukawa T, Mitsui J, Ishihara T, Onodera O, Suzuki Y, Morishita S; Japan Multiple System Atrophy Registry Consortium; Toda T, Tsuji S. Kakumoto T, et al. Among authors: orimo k. Eur J Hum Genet. 2024 Nov 27. doi: 10.1038/s41431-024-01743-3. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39604554
36 results