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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: iida a. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Donkervoort S, Kutzner CE, Hu Y, Lornage X, Rendu J, Stojkovic T, Baets J, Neuhaus SB, Tanboon J, Maroofian R, Bolduc V, Mroczek M, Conijn S, Kuntz NL, Töpf A, Monges S, Lubieniecki F, McCarty RM, Chao KR, Governali S, Böhm J, Boonyapisit K, Malfatti E, Sangruchi T, Horkayne-Szakaly I, Hedberg-Oldfors C, Efthymiou S, Noguchi S, Djeddi S, Iida A, di Rosa G, Fiorillo C, Salpietro V, Darin N, Fauré J, Houlden H, Oldfors A, Nishino I, de Ridder W, Straub V, Pokrzywa W, Laporte J, Foley AR, Romero NB, Ottenheijm C, Hoppe T, Bönnemann CG. Donkervoort S, et al. Among authors: iida a. Am J Hum Genet. 2020 Dec 3;107(6):1078-1095. doi: 10.1016/j.ajhg.2020.11.002. Epub 2020 Nov 19. Am J Hum Genet. 2020. PMID: 33217308 Free PMC article.
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M, Saito Y, Yonekawa T, Ogawa M, Iida A, Nishino I, Noguchi S. Inoue M, et al. Among authors: iida a. Orphanet J Rare Dis. 2021 Jun 24;16(1):284. doi: 10.1186/s13023-021-01921-2. Orphanet J Rare Dis. 2021. PMID: 34167565 Free PMC article.
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I. Ogasawara M, et al. Among authors: iida a. Acta Neuropathol Commun. 2020 Nov 25;8(1):204. doi: 10.1186/s40478-020-01084-4. Acta Neuropathol Commun. 2020. PMID: 33239111 Free PMC article.
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.
Nishimori Y, Iida A, Ogasawara M, Okubo M, Yonenobu Y, Kinoshita M, Sugie K, Noguchi S, Nishino I. Nishimori Y, et al. Among authors: iida a. Neurol Genet. 2021 Dec 17;8(1):e649. doi: 10.1212/NXG.0000000000000649. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34934811 Free PMC article.
Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report.
Matsubara T, Saito Y, Kurashige T, Higashihara M, Hasegawa F, Ogasawara M, Iida A, Nishino I, Adachi T, Kubota A, Murayama S. Matsubara T, et al. Among authors: iida a. eNeurologicalSci. 2021 Jun 4;24:100348. doi: 10.1016/j.ensci.2021.100348. eCollection 2021 Sep. eNeurologicalSci. 2021. PMID: 34466670 Free PMC article. No abstract available.
657 results