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Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
Gorospe JR, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP. Gorospe JR, et al. Among authors: naidu s. Neurology. 2002 May 28;58(10):1494-500. doi: 10.1212/wnl.58.10.1494. Neurology. 2002. PMID: 12034785
An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant.
Dotti MT, Buccoliero R, Lee A, Gorospe JR, Flint D, Galluzzi P, Bianchi S, D'Eramo C, Naidu S, Federico A, Brenner M. Dotti MT, et al. Among authors: naidu s. J Neurol. 2009 Apr;256(4):679-82. doi: 10.1007/s00415-009-0147-4. Epub 2009 Apr 27. J Neurol. 2009. PMID: 19444543 Free PMC article. No abstract available.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Among authors: naidu s. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
MeCP2 mutations in children with and without the phenotype of Rett syndrome.
Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J, Schuette J, Innis J, Marino M, Philippart M, Narayanan V, Umansky R, Kronn D, Hoffman EP, Naidu S. Hoffbuhr K, et al. Among authors: naidu s. Neurology. 2001 Jun 12;56(11):1486-95. doi: 10.1212/wnl.56.11.1486. Neurology. 2001. PMID: 11402105
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
Flint D, Li R, Webster LS, Naidu S, Kolodny E, Percy A, van der Knaap M, Powers JM, Mantovani JF, Ekstein J, Goldman JE, Messing A, Brenner M. Flint D, et al. Among authors: naidu s. Hum Mutat. 2012 Jul;33(7):1141-8. doi: 10.1002/humu.22094. Epub 2012 Apr 30. Hum Mutat. 2012. PMID: 22488673 Free PMC article.
849 results