Crow YJ - Search Results

1

Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trial.

Crow YJ, Briggs TA, Eleftheriou D, Parida A, Battison C, Giddings A, Kennel T, Parker RA; AGS‐RTIs Study Group. Crow YJ, et al. Dev Med Child Neurol. 2024 Dec 4:10.1111/dmcn.16199. doi: 10.1111/dmcn.16199. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 39630935 Free PMC article.

2

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

Orcesi S, Pessagno A, Biancheri R, La Piana R, Mascaretti M, Rossi A, Rice GI, Crow YJ, Fazzi E, Veneselli E. Orcesi S, et al. Among authors: crow yj. Eur J Paediatr Neurol. 2008 Sep;12(5):408-11. doi: 10.1016/j.ejpn.2007.10.005. Epub 2008 Feb 20. Eur J Paediatr Neurol. 2008. PMID: 18069026

3

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.

Crow YJ, Livingston JH. Crow YJ, et al. Dev Med Child Neurol. 2008 Jun;50(6):410-6. doi: 10.1111/j.1469-8749.2008.02062.x. Epub 2008 Apr 14. Dev Med Child Neurol. 2008. PMID: 18422679 Free article. Review.

4

Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus.

Kolivras A, Aeby A, Crow YJ, Rice GI, Sass U, André J. Kolivras A, et al. Among authors: crow yj. J Cutan Pathol. 2008 Aug;35(8):774-8. doi: 10.1111/j.1600-0560.2007.00900.x. Epub 2008 Apr 17. J Cutan Pathol. 2008. PMID: 18422690

5

Aicardi-Goutières syndrome: description of a late onset case.

D'Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Lebon P, Rice G, Crow YJ, Pantaleoni C. D'Arrigo S, et al. Among authors: crow yj. Dev Med Child Neurol. 2008 Aug;50(8):631-4. doi: 10.1111/j.1469-8749.2008.03033.x. Dev Med Child Neurol. 2008. PMID: 18754903 Free article.

6

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.

Navarro V, Scott C, Briggs TA, Barete S, Frances C, Lebon P, Maisonobe T, Rice GI, Wouters CH, Crow YJ. Navarro V, et al. Among authors: crow yj. Am J Med Genet A. 2008 Nov 1;146A(21):2810-5. doi: 10.1002/ajmg.a.32518. Am J Med Genet A. 2008. PMID: 18924170

7

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ. Briggs TA, et al. Among authors: crow yj. Am J Med Genet A. 2008 Dec 15;146A(24):3173-80. doi: 10.1002/ajmg.a.32614. Am J Med Genet A. 2008. PMID: 19012351

8

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Rice GI, et al. Among authors: crow yj. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525956 Free PMC article.

9

Elevated pterins in cerebral spinal fluid--biochemical marker of Aicardi-Goutières syndrome.

Wassmer E, Singh J, Agrawal S, Santra S, Crow YJ. Wassmer E, et al. Among authors: crow yj. Dev Med Child Neurol. 2009 Oct;51(10):841-2. doi: 10.1111/j.1469-8749.2009.03379.x. Epub 2009 Aug 18. Dev Med Child Neurol. 2009. PMID: 19694776 Free article. No abstract available.

10

Aicardi-Goutières syndrome presenting with haematemesis in infancy.

Hall D, Rice GI, Akbar N, Meager A, Crow YJ, Lim MJ. Hall D, et al. Among authors: crow yj. Acta Paediatr. 2009 Dec;98(12):2005-8. doi: 10.1111/j.1651-2227.2009.01454.x. Epub 2009 Sep 22. Acta Paediatr. 2009. PMID: 19775308

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