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Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Bruels CC, Littel HR, Daugherty AL, Stafki S, Estrella EA, McGaughy ES, Truong D, Badalamenti JP, Pais L, Ganesh VS, O'Donnell-Luria A, Stalker HJ, Wang Y, Collins C, Behlmann A, Lemmers RJLF, van der Maarel SM, Laine R, Ghosh PS, Darras BT, Zingariello CD, Pacak CA, Kunkel LM, Kang PB. Bruels CC, et al. Among authors: laine r. Ann Clin Transl Neurol. 2022 Aug;9(8):1302-1309. doi: 10.1002/acn3.51612. Epub 2022 Jun 23. Ann Clin Transl Neurol. 2022. PMID: 35734998 Free PMC article.
Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach.
Madan E, Carrié S, Donado C, Lobo K, Souris M, Laine R, Beers E, Cornelissen L, Darras BT, Koka A, Riley B, Dinakar P, Stone S, Snyder B, Graham RJ, Padua H, Sethna N, Berde C. Madan E, et al. Among authors: laine r. Pediatr Neurol. 2022 Jul;132:33-40. doi: 10.1016/j.pediatrneurol.2022.04.008. Epub 2022 Apr 30. Pediatr Neurol. 2022. PMID: 35636280
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT; Undiagnosed Diseases Network (UDN). Rodan LH, et al. Among authors: laine r. Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15. Mol Genet Metab. 2018. PMID: 30031689 Free PMC article.
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Töpf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Züchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J. De Winter J, et al. Among authors: laine r. medRxiv [Preprint]. 2024 Sep 24:2024.09.23.24313872. doi: 10.1101/2024.09.23.24313872. medRxiv. 2024. PMID: 39371122 Free PMC article. Preprint.
Conjugation through Si-O-Si bonds, silsesquioxane (SQ) half cage copolymers, extended examples via SiO0.5/SiO1.5 units: multiple emissive states in violation of Kasha's rule.
Zhang Z, Arias JJR, Kaehr H, Liu Y, Murata R, Unno M, Yodsin N, Pimbaotham P, Jungsuttiwong S, Rammo M, Heo JM, Kim J, Rebane A, Laine RM. Zhang Z, et al. Among authors: laine rm. Dalton Trans. 2024 Jun 17;53(24):10328-10337. doi: 10.1039/d4dt00567h. Dalton Trans. 2024. PMID: 38836318
276 results