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NT5E mutations and arterial calcifications.
St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. St Hilaire C, et al. Among authors: brusco a. N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923. N Engl J Med. 2011. PMID: 21288095 Free PMC article.
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.
Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS. Nmezi B, et al. Among authors: brusco a. Neurol Genet. 2019 Jan 24;5(1):e305. doi: 10.1212/NXG.0000000000000305. eCollection 2019 Feb. Neurol Genet. 2019. PMID: 30842973 Free PMC article.
Myopathy in a patient with chromosome 22q11 deletion.
Mongini T, Doriguzzi C, Arduino C, Brusco A, Bortolotto S, Mutani R, Palmucci L. Mongini T, et al. Among authors: brusco a. Neuropediatrics. 2001 Apr;32(2):107-9. doi: 10.1055/s-2001-13877. Neuropediatrics. 2001. PMID: 11414642 No abstract available.
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini E, Aiello C, Lucchini C, Gatti RA, Brussino A, Brusco A. Mancini C, et al. Among authors: brusco a. Neurogenetics. 2012 Aug;13(3):205-14. doi: 10.1007/s10048-012-0331-z. Epub 2012 May 3. Neurogenetics. 2012. PMID: 22552818 Free article.
Altered homeostasis of trace elements in the blood of SCA2 patients.
Squadrone S, Brizio P, Mancini C, Abete MC, Brusco A. Squadrone S, et al. Among authors: brusco a. J Trace Elem Med Biol. 2018 May;47:111-114. doi: 10.1016/j.jtemb.2018.02.011. Epub 2018 Feb 13. J Trace Elem Med Biol. 2018. PMID: 29544796 Free article.
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.
Quarello P, Garelli E, Brusco A, Carando A, Mancini C, Pappi P, Vinti L, Svahn J, Dianzani I, Ramenghi U. Quarello P, et al. Among authors: brusco a. Haematologica. 2012 Dec;97(12):1813-7. doi: 10.3324/haematol.2012.062281. Epub 2012 Jun 11. Haematologica. 2012. PMID: 22689679 Free PMC article.
317 results