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Page 1
Lafora disease due to EPM2B mutations: a clinical and genetic study.
Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM. Gómez-Abad C, et al. Among authors: tassinari ca. Neurology. 2005 Mar 22;64(6):982-6. doi: 10.1212/01.WNL.0000154519.10805.F7. Neurology. 2005. PMID: 15781812 Free article.
A PTG variant contributes to a milder phenotype in Lafora disease.
Guerrero R, Vernia S, Sanz R, Abreu-Rodríguez I, Almaraz C, García-Hoyos M, Michelucci R, Tassinari CA, Riguzzi P, Nobile C, Sanz P, Serratosa JM, Gómez-Garre P. Guerrero R, et al. Among authors: tassinari ca. PLoS One. 2011;6(6):e21294. doi: 10.1371/journal.pone.0021294. Epub 2011 Jun 30. PLoS One. 2011. PMID: 21738631 Free PMC article.
Identical genetic locus for Baltic and Mediterranean myoclonus.
Malafosse A, Lehesjoki AE, Genton P, Labauge P, Durand G, Tassinari CA, Dravet C, Michelucci R, de la Chapelle A. Malafosse A, et al. Among authors: tassinari ca. Lancet. 1992 May 2;339(8801):1080-1. doi: 10.1016/0140-6736(92)90667-r. Lancet. 1992. PMID: 1349105
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.
Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Sáenz A, Poza JJ, Galán J, Gesk S, Sarafidou T, Mautner VF, Binelli S, Staub E, Hinzmann B, French L, Prud'homme JF, Passarelli D, Scannapieco P, Tassinari CA, Avanzini G, Martí-Massó JF, Kluwe L, Deloukas P, Moschonas NK, Michelucci R, Siebert R, Nobile C, Pérez-Tur J, López de Munain A. Morante-Redolat JM, et al. Among authors: tassinari ca. Hum Mol Genet. 2002 May 1;11(9):1119-28. doi: 10.1093/hmg/11.9.1119. Hum Mol Genet. 2002. PMID: 11978770
[Lafora disease (author's transl)].
Tassinari CA, Bureau-Paillas M, Dalla Bernardina B, Picornell-Darder I, Mouren MC, Dravet C, Roger J. Tassinari CA, et al. Rev Electroencephalogr Neurophysiol Clin. 1978 Jan-Mar;8(1):107-22. doi: 10.1016/s0370-4475(78)80126-9. Rev Electroencephalogr Neurophysiol Clin. 1978. PMID: 96498 French.
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. Dibbens LM, et al. Among authors: tassinari ca. Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765. Ann Neurol. 2009. PMID: 19847901
Epileptic negative myoclonus.
Guerrini R, Dravet C, Genton P, Bureau M, Roger J, Rubboli G, Tassinari CA. Guerrini R, et al. Among authors: tassinari ca. Neurology. 1993 Jun;43(6):1078-83. doi: 10.1212/wnl.43.6.1078. Neurology. 1993. PMID: 8170545
267 results