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Deep convolutional neural network-based algorithm for muscle biopsy diagnosis.
Kabeya Y, Okubo M, Yonezawa S, Nakano H, Inoue M, Ogasawara M, Saito Y, Tanboon J, Indrawati LA, Kumutpongpanich T, Chen YL, Yoshioka W, Hayashi S, Iwamori T, Takeuchi Y, Tokumasu R, Takano A, Matsuda F, Nishino I. Kabeya Y, et al. Among authors: saito y. Lab Invest. 2022 Mar;102(3):220-226. doi: 10.1038/s41374-021-00647-w. Epub 2021 Oct 2. Lab Invest. 2022. PMID: 34599274 Free article.
Muscle biochemical and pathological diagnosis in Pompe disease.
Saito Y, Nakamura K, Fukuda T, Sugie H, Hayashi S, Noguchi S, Nishino I. Saito Y, et al. J Neurol Neurosurg Psychiatry. 2022 Apr 25:jnnp-2022-329085. doi: 10.1136/jnnp-2022-329085. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35470251
A 7-year-old female with hypotonia and scoliosis.
Saito Y, Baba S, Komaki H, Nishino I. Saito Y, et al. Brain Pathol. 2022 Nov;32(6):e13076. doi: 10.1111/bpa.13076. Epub 2022 Jun 5. Brain Pathol. 2022. PMID: 35665974 Free PMC article. No abstract available.
Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
Hiramuki Y, Kure Y, Saito Y, Ogawa M, Ishikawa K, Mori-Yoshimura M, Oya Y, Takahashi Y, Kim DS, Arai N, Mori C, Matsumura T, Hamano T, Nakamura K, Ikezoe K, Hayashi S, Goto Y, Noguchi S, Nishino I. Hiramuki Y, et al. Among authors: saito y. J Transl Med. 2022 Nov 8;20(1):517. doi: 10.1186/s12967-022-03743-7. J Transl Med. 2022. PMID: 36348371 Free PMC article.
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M, Ikenaga C, Topf A, Caballero-Ávila M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar-Quiles R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas-Morales R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini-Bettolo C, Diaz-Manera J, Weihl CC. Schiava M, et al. Among authors: saito y. Neurol Genet. 2023 Aug 15;9(5):e200093. doi: 10.1212/NXG.0000000000200093. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37588275 Free PMC article.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: saito y. J Neurol. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 Free PMC article.
9,465 results