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Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Jenkinson EM, et al. Among authors: stone j. Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. Nat Genet. 2017. PMID: 28138155 No abstract available.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Jenkinson EM, et al. Among authors: stone j. Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Nat Genet. 2016. PMID: 27571260 Free PMC article.
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ. Anderson BH, et al. Among authors: stone j. Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084. Nat Genet. 2012. PMID: 22267198 Free article.
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
Livingston JH, Mayer J, Jenkinson E, Kasher P, Stivaros S, Berger A, Cordelli DM, Ferreira P, Jefferson R, Kutschke G, Lundberg S, Ounap K, Prabhakar P, Soh C, Stewart H, Stone J, van der Knaap MS, van Esch H, van Mol C, Wakeling E, Whitney A, Rice GI, Crow YJ. Livingston JH, et al. Among authors: stone j. Neuropediatrics. 2014 Jun;45(3):175-82. doi: 10.1055/s-0033-1364180. Epub 2014 Jan 9. Neuropediatrics. 2014. PMID: 24407470
Specialist physiotherapy for functional motor disorder in England and Scotland (Physio4FMD): a pragmatic, multicentre, phase 3 randomised controlled trial.
Nielsen G, Stone J, Lee TC, Goldstein LH, Marston L, Hunter RM, Carson A, Holt K, Marsden J, Le Novere M, Nazareth I, Noble H, Reuber M, Strudwick AM, Santana Suarez B, Edwards MJ; Physio4FMD study group. Nielsen G, et al. Among authors: stone j. Lancet Neurol. 2024 May 16:S1474-4422(24)00135-2. doi: 10.1016/S1474-4422(24)00135-2. Online ahead of print. Lancet Neurol. 2024. PMID: 38768621
Result of the left bundle branch area pacing data collection registry, an international multicenter study of conduction system pacing with a Tendril STS 2088 stylet-driven lead.
Vijayaraman P, Foo D, Lim TSE, Diamantakos E, Verma S, Hourdain J, Pandurangi U, Bhargava K, Zanon F, Stone J, Lee K, Nair D. Vijayaraman P, et al. Among authors: stone j. J Cardiovasc Electrophysiol. 2024 May 17. doi: 10.1111/jce.16274. Online ahead of print. J Cardiovasc Electrophysiol. 2024. PMID: 38757909
Impacts of human mobility on the citywide transmission dynamics of 18 respiratory viruses in pre- and post-COVID-19 pandemic years.
Perofsky AC, Hansen CL, Burstein R, Boyle S, Prentice R, Marshall C, Reinhart D, Capodanno B, Truong M, Schwabe-Fry K, Kuchta K, Pfau B, Acker Z, Lee J, Sibley TR, McDermot E, Rodriguez-Salas L, Stone J, Gamboa L, Han PD, Adler A, Waghmare A, Jackson ML, Famulare M, Shendure J, Bedford T, Chu HY, Englund JA, Starita LM, Viboud C. Perofsky AC, et al. Among authors: stone j. Nat Commun. 2024 May 16;15(1):4164. doi: 10.1038/s41467-024-48528-2. Nat Commun. 2024. PMID: 38755171 Free PMC article.
Multi-institutional review of characteristics and management of gunshot wounds to the spine.
Santangelo G, Wathen C, Pieters T, George DD, Worley L, Macaluso D, Dagli MM, Catanzaro S, Gu B, Welch WC, Petrov D, Vates GE, Ozturk AK, Schuster J, Stone JJ. Santangelo G, et al. Among authors: stone jj. Spine J. 2024 May 11:S1529-9430(24)00216-X. doi: 10.1016/j.spinee.2024.04.032. Online ahead of print. Spine J. 2024. PMID: 38740190
Recombinant ADAMTS13 for Immune Thrombotic Thrombocytopenic Purpura.
Bendapudi PK, Foy BH, Mueller SB, Liu J, Feingold LM, Burke KE, Cruz W, Chen MY, Lau ES, Goldberg RL, Tatake I, Wilkinson SC, Carney BJ, Stone JR, Park D, Avelino AR, Hassan S, Andrzejewski C, Ruby KN, Friedman KD, Brunker PAR, Leaf RK, Higgins J, Dzik WH, Stefely JA, Makar RS. Bendapudi PK, et al. Among authors: stone jr. N Engl J Med. 2024 May 9;390(18):1690-1698. doi: 10.1056/NEJMoa2402567. N Engl J Med. 2024. PMID: 38718359
4,322 results