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A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
Cabrera-Serrano M, Coote DJ, Azmanov D, Goullee H, Andersen E, McLean C, Davis M, Ishimura R, Stark Z, Vallat JM, Komatsu M, Kornberg A, Ryan M, Laing NG, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: kornberg a. J Med Genet. 2020 Dec;57(12):835-842. doi: 10.1136/jmedgenet-2019-106496. Epub 2020 Mar 16. J Med Genet. 2020. PMID: 32179706 Free article.
Carpal tunnel syndrome secondary to ganglion cyst in a child.
Mohamed A, Rosalie S, Taylor K, Fink M, Coombs C, Ryan M, Kornberg A. Mohamed A, et al. Among authors: kornberg a. J Child Neurol. 2011 May;26(5):630-3. doi: 10.1177/0883073810387299. Epub 2011 Jan 31. J Child Neurol. 2011. PMID: 21285036
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators; Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. Spitali P, et al. Eur J Hum Genet. 2020 Jun;28(6):815-825. doi: 10.1038/s41431-019-0563-6. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896777 Free PMC article.
Utility and safety of rituximab in pediatric autoimmune and inflammatory CNS disease.
Dale RC, Brilot F, Duffy LV, Twilt M, Waldman AT, Narula S, Muscal E, Deiva K, Andersen E, Eyre MR, Eleftheriou D, Brogan PA, Kneen R, Alper G, Anlar B, Wassmer E, Heineman K, Hemingway C, Riney CJ, Kornberg A, Tardieu M, Stocco A, Banwell B, Gorman MP, Benseler SM, Lim M. Dale RC, et al. Among authors: kornberg a. Neurology. 2014 Jul 8;83(2):142-50. doi: 10.1212/WNL.0000000000000570. Epub 2014 Jun 11. Neurology. 2014. PMID: 24920861 Free PMC article.
A fatal case of angiostrongyliasis in an 11-month-old infant.
Cooke-Yarborough CM, Kornberg AJ, Hogg GG, Spratt DM, Forsyth JR. Cooke-Yarborough CM, et al. Among authors: kornberg aj. Med J Aust. 1999 Jun 7;170(11):541-3. doi: 10.5694/j.1326-5377.1999.tb127880.x. Med J Aust. 1999. PMID: 10397046
679 results