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Page 1
Infantile neurological Degos disease.
Yeo TH, Vassallo G, Judge M, Laycock N, Kelsey A, Crow YJ. Yeo TH, et al. Among authors: vassallo g. Eur J Paediatr Neurol. 2011 Mar;15(2):167-70. doi: 10.1016/j.ejpn.2010.06.003. Epub 2010 Jul 24. Eur J Paediatr Neurol. 2011. PMID: 20659809
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG. Banka S, et al. Among authors: vassallo g. Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004. Am J Hum Genet. 2011. PMID: 21310276 Free PMC article.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Among authors: vassallo g. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Rice GI, et al. Among authors: vassallo g. Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Lancet Neurol. 2013. PMID: 24183309 Free PMC article.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez… See abstract for full author list ➔ Crow YJ, et al. Among authors: vassallo g. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya.
Tho-Calvi SC, Thompson D, Saunders D, Agrawal S, Basu A, Chitre M, Chow G, Gibbon F, Hart A, Tallur KK, Kirkham F, Kneen R, McCullagh H, Mewasingh L, Vassallo G, Vijayakumar K, Wraige E, Yeo TH, Ganesan V; British Paediatric Neurology Association Moyamoya Study group. Tho-Calvi SC, et al. Among authors: vassallo g. Neurology. 2018 Feb 27;90(9):e763-e770. doi: 10.1212/WNL.0000000000005026. Neurology. 2018. PMID: 29483323
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Van Eyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, Rice GI, Vassallo G, Rodero MP, He L, Taylor RW, Livingston JH, Chrzanowska-Lightowlers ZMA, Crow YJ. Van Eyck L, et al. Among authors: vassallo g. Neuropediatrics. 2020 Jun;51(3):178-184. doi: 10.1055/s-0039-3400979. Epub 2019 Nov 28. Neuropediatrics. 2020. PMID: 31779033
An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms.
Fong CY, Osborne JP, Edwards SW, Hemingway C, Hancock E, Johnson AL, Kennedy CR, Kneen R, Likeman M, Lux AL, Mordekar SR, Murugan V, Newton RW, Pike M, Quinn M, Spinty S, Vassallo G, Verity CM, Whitney A, O'Callaghan FJ. Fong CY, et al. Among authors: vassallo g. Dev Med Child Neurol. 2013 Sep;55(9):862-7. doi: 10.1111/dmcn.12188. Epub 2013 Jun 22. Dev Med Child Neurol. 2013. PMID: 23789722 Free article.
146 results