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Meta-analysis of shotgun sequencing of gut microbiota in Parkinson's disease.
Nishiwaki H, Ueyama J, Ito M, Hamaguchi T, Takimoto K, Maeda T, Kashihara K, Tsuboi Y, Mori H, Kurokawa K, Katsuno M, Hirayama M, Ohno K. Nishiwaki H, et al. NPJ Parkinsons Dis. 2024 May 21;10(1):106. doi: 10.1038/s41531-024-00724-z. NPJ Parkinsons Dis. 2024. PMID: 38773112 Free PMC article.
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.
Farshadyeganeh P, Yamada T, Ohashi H, Nishimura G, Fujita H, Oishi Y, Nunode M, Ishikawa S, Murotsuki J, Yamashita Y, Ikegawa S, Ogi T, Arikawa-Hirasawa E, Ohno K. Farshadyeganeh P, et al. J Hum Genet. 2024 Jun;69(6):235-244. doi: 10.1038/s10038-024-01229-6. Epub 2024 Feb 29. J Hum Genet. 2024. PMID: 38424183 Free PMC article.