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Page 1
Progressive cavitating leukoencephalopathy: a novel childhood disease.
Naidu S, Bibat G, Lin D, Burger P, Barker P, Rosemberg S, Braverman N, Arroyo H, Dowling M, Hamosh A, Kimonis V, Blank C, Fiumara A, Facchini S, Singhal B, Moser H, Kelley R, DiMauro S. Naidu S, et al. Among authors: fiumara a. Ann Neurol. 2005 Dec;58(6):929-38. doi: 10.1002/ana.20671. Ann Neurol. 2005. PMID: 16315274 Free article.
Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS. Hamilton EMC, et al. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. Ann Neurol. 2018. PMID: 30014503 Free PMC article.
Farber disease with prolonged survival.
Fiumara A, Nigro F, Pavone L, Moser HW. Fiumara A, et al. J Inherit Metab Dis. 1993;16(5):915-6. doi: 10.1007/BF00714300. J Inherit Metab Dis. 1993. PMID: 8295420 No abstract available.
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. Barone R, et al. Among authors: fiumara a. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632. Ann Neurol. 2012. PMID: 23109149
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A. Barone R, et al. Among authors: fiumara a. J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30. J Neurol. 2015. PMID: 25355454
188 results