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2003 6
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Page 1
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Tiranti V, et al. Am J Hum Genet. 2004 Feb;74(2):239-52. doi: 10.1086/381653. Epub 2004 Jan 19. Am J Hum Genet. 2004. PMID: 14732903 Free PMC article.
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A. Coppola G, et al. J Neurol. 2005 Aug;252(8):897-900. doi: 10.1007/s00415-005-0766-3. Epub 2005 Mar 8. J Neurol. 2005. PMID: 15742102
FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome.
Lahortiga I, Vázquez I, Belloni E, Román JP, Gasparini P, Novo FJ, Zudaire I, Pelicci PG, Hernández JM, Calasanz MJ, Odero MD. Lahortiga I, et al. Hum Genet. 2005 May;116(6):476-85. doi: 10.1007/s00439-005-1268-1. Epub 2005 Mar 3. Hum Genet. 2005. PMID: 15744521 Free article.
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.
Carella M, d'Adamo AP, Grootenboer-Mignot S, Vantyghem MC, Esposito L, D'Eustacchio A, Ficarella R, Stewart GW, Gasparini P, Delaunay J, Iolascon A. Carella M, et al. Eur J Hum Genet. 2004 Dec;12(12):1073-6. doi: 10.1038/sj.ejhg.5201280. Eur J Hum Genet. 2004. PMID: 15470366
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
Muglia M, Criscuolo C, Magariello A, De Michele G, Scarano V, D'Adamo P, Ambrosio G, Gabriele AL, Patitucci A, Mazzei R, Conforti FL, Sprovieri T, Morgante L, Epifanio A, La Spina P, Valentino P, Gasparini P, Filla A, Quattrone A. Muglia M, et al. Neurogenetics. 2004 Feb;5(1):49-54. doi: 10.1007/s10048-003-0167-7. Epub 2003 Dec 5. Neurogenetics. 2004. PMID: 14658060
20 results