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Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C. Marttila M, et al. Among authors: stewart w. Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1. Hum Mutat. 2014. PMID: 24692096 Free PMC article.
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmüller H. Chaouch A, et al. Among authors: stewart w. J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1359-65. doi: 10.1136/jnnp-2013-306314. Epub 2014 Apr 2. J Neurol Neurosurg Psychiatry. 2014. PMID: 24695763 Free PMC article.
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Ullmann U, D'Argenzio L, Mathur S, Whyte T, Quinlivan R, Longman C, Farrugia ME, Manzur A, Willis T, Jungbluth H, Pitt M, Cirak S; UK10K consortium; Feng L, Stewart W, Mein R, Phadke R, Sewry C, Sarkozy A, Muntoni F. Ullmann U, et al. Among authors: stewart w. Neuromuscul Disord. 2018 Sep;28(9):741-749. doi: 10.1016/j.nmd.2018.05.012. Epub 2018 Jun 30. Neuromuscul Disord. 2018. PMID: 30131190
The phenotypic and genotypic features of a Scottish cohort with McArdle disease.
Gandhi SE, Longman C, Petty RKH, Brennan KM, Stewart W, Kinch K, Töpf A, Straub V, Quinlivan R, Farrugia ME. Gandhi SE, et al. Among authors: stewart w. Neuromuscul Disord. 2021 Aug;31(8):695-700. doi: 10.1016/j.nmd.2021.05.009. Epub 2021 May 30. Neuromuscul Disord. 2021. PMID: 34215481
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.
Henderson M, De Waele L, Hudson J, Eagle M, Sewry C, Marsh J, Charlton R, He L, Blakely EL, Horrocks I, Stewart W, Taylor RW, Longman C, Bushby K, Barresi R. Henderson M, et al. Among authors: stewart w. Acta Neuropathol. 2013 Jun;125(6):917-9. doi: 10.1007/s00401-013-1113-x. Epub 2013 Apr 11. Acta Neuropathol. 2013. PMID: 23575897 No abstract available.
Clinical and Imaging Characteristics, Care Pathways, and Outcomes of Traumatic Epidural Hematomas: A Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury Study.
Pisică D, Volovici V, Yue JK, van Essen TA, den Boogert HF, Vande Vyvere T, Haitsma I, Nieboer D, Markowitz AJ, Yuh EL, Steyerberg EW, Peul WC, Dirven CMF, Menon DK, Manley GT, Maas AIR, Lingsma HF; CENTER-TBI Participants and Investigators. Pisică D, et al. Neurosurgery. 2024 May 21. doi: 10.1227/neu.0000000000002982. Online ahead of print. Neurosurgery. 2024. PMID: 38771081
Early versus delayed cranioplasty after decompressive craniectomy in traumatic brain injury: a multicenter observational study within CENTER-TBI and Net-QuRe.
Vreeburg RJG, Singh RD, van Erp IAM, Korhonen TK, Yue JK, Mee H, Timofeev I, Kolias A, Helmy A, Depreitere B, Moojen WA, Younsi A, Hutchinson P, Manley GT, Steyerberg EW, de Ruiter GCW, Maas AIR, Peul WC, van Dijck JTJM, den Boogert HF, Posti JP, van Essen TA; for the CENTER-TBI Participants and Investigators. Vreeburg RJG, et al. J Neurosurg. 2024 Apr 26:1-13. doi: 10.3171/2024.1.JNS232172. Online ahead of print. J Neurosurg. 2024. PMID: 38669706
2,252 results